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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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Fusion gene ID: 41512

FusionGeneSummary for VPS13B_AHI1

check button Fusion gene summary
Fusion gene informationFusion gene name: VPS13B_AHI1
Fusion gene ID: 41512
HgeneTgene
Gene symbol

VPS13B

AHI1

Gene ID

157680

54806

Gene namevacuolar protein sorting 13 homolog BAbelson helper integration site 1
SynonymsCHS1|COH1AHI-1|JBTS3|ORF1|dJ71N10.1
Cytomap

8q22.2

6q23.3

Type of geneprotein-codingprotein-coding
Descriptionvacuolar protein sorting-associated protein 13Bjouberinabelson helper integration site 1 protein homologcontatins SH3 and WD40 domains
Modification date2018051920180519
UniProtAcc

Q7Z7G8

Q8N157

Ensembl transtripts involved in fusion geneENST00000395996, ENST00000358544, 
ENST00000357162, ENST00000355155, 
ENST00000441350, ENST00000521932, 
ENST00000367800, ENST00000457866, 
ENST00000417892, ENST00000327035, 
ENST00000488690, ENST00000367798, 
ENST00000528103, ENST00000534469, 
ENST00000531527, 
Fusion gene scores* DoF score27 X 20 X 12=64806 X 7 X 5=210
# samples 307
** MAII scorelog2(30/6480*10)=-4.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/210*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: VPS13B [Title/Abstract] AND AHI1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDBRCATCGA-BH-A1F0-01AVPS13Bchr8

100050794

+AHI1chr6

135644462

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
In-frameENST00000395996ENST00000367800VPS13Bchr8

100050794

+AHI1chr6

135644462

-
In-frameENST00000395996ENST00000457866VPS13Bchr8

100050794

+AHI1chr6

135644462

-
In-frameENST00000395996ENST00000417892VPS13Bchr8

100050794

+AHI1chr6

135644462

-
5CDS-intronENST00000395996ENST00000327035VPS13Bchr8

100050794

+AHI1chr6

135644462

-
5CDS-intronENST00000395996ENST00000488690VPS13Bchr8

100050794

+AHI1chr6

135644462

-
5CDS-intronENST00000395996ENST00000367798VPS13Bchr8

100050794

+AHI1chr6

135644462

-
5CDS-intronENST00000395996ENST00000528103VPS13Bchr8

100050794

+AHI1chr6

135644462

-
5CDS-intronENST00000395996ENST00000534469VPS13Bchr8

100050794

+AHI1chr6

135644462

-
5CDS-intronENST00000395996ENST00000531527VPS13Bchr8

100050794

+AHI1chr6

135644462

-
In-frameENST00000358544ENST00000367800VPS13Bchr8

100050794

+AHI1chr6

135644462

-
In-frameENST00000358544ENST00000457866VPS13Bchr8

100050794

+AHI1chr6

135644462

-
In-frameENST00000358544ENST00000417892VPS13Bchr8

100050794

+AHI1chr6

135644462

-
5CDS-intronENST00000358544ENST00000327035VPS13Bchr8

100050794

+AHI1chr6

135644462

-
5CDS-intronENST00000358544ENST00000488690VPS13Bchr8

100050794

+AHI1chr6

135644462

-
5CDS-intronENST00000358544ENST00000367798VPS13Bchr8

100050794

+AHI1chr6

135644462

-
5CDS-intronENST00000358544ENST00000528103VPS13Bchr8

100050794

+AHI1chr6

135644462

-
5CDS-intronENST00000358544ENST00000534469VPS13Bchr8

100050794

+AHI1chr6

135644462

-
5CDS-intronENST00000358544ENST00000531527VPS13Bchr8

100050794

+AHI1chr6

135644462

-
In-frameENST00000357162ENST00000367800VPS13Bchr8

100050794

+AHI1chr6

135644462

-
In-frameENST00000357162ENST00000457866VPS13Bchr8

100050794

+AHI1chr6

135644462

-
In-frameENST00000357162ENST00000417892VPS13Bchr8

100050794

+AHI1chr6

135644462

-
5CDS-intronENST00000357162ENST00000327035VPS13Bchr8

100050794

+AHI1chr6

135644462

-
5CDS-intronENST00000357162ENST00000488690VPS13Bchr8

100050794

+AHI1chr6

135644462

-
5CDS-intronENST00000357162ENST00000367798VPS13Bchr8

100050794

+AHI1chr6

135644462

-
5CDS-intronENST00000357162ENST00000528103VPS13Bchr8

100050794

+AHI1chr6

135644462

-
5CDS-intronENST00000357162ENST00000534469VPS13Bchr8

100050794

+AHI1chr6

135644462

-
5CDS-intronENST00000357162ENST00000531527VPS13Bchr8

100050794

+AHI1chr6

135644462

-
In-frameENST00000355155ENST00000367800VPS13Bchr8

100050794

+AHI1chr6

135644462

-
In-frameENST00000355155ENST00000457866VPS13Bchr8

100050794

+AHI1chr6

135644462

-
In-frameENST00000355155ENST00000417892VPS13Bchr8

100050794

+AHI1chr6

135644462

-
5CDS-intronENST00000355155ENST00000327035VPS13Bchr8

100050794

+AHI1chr6

135644462

-
5CDS-intronENST00000355155ENST00000488690VPS13Bchr8

100050794

+AHI1chr6

135644462

-
5CDS-intronENST00000355155ENST00000367798VPS13Bchr8

100050794

+AHI1chr6

135644462

-
5CDS-intronENST00000355155ENST00000528103VPS13Bchr8

100050794

+AHI1chr6

135644462

-
5CDS-intronENST00000355155ENST00000534469VPS13Bchr8

100050794

+AHI1chr6

135644462

-
5CDS-intronENST00000355155ENST00000531527VPS13Bchr8

100050794

+AHI1chr6

135644462

-
In-frameENST00000441350ENST00000367800VPS13Bchr8

100050794

+AHI1chr6

135644462

-
In-frameENST00000441350ENST00000457866VPS13Bchr8

100050794

+AHI1chr6

135644462

-
In-frameENST00000441350ENST00000417892VPS13Bchr8

100050794

+AHI1chr6

135644462

-
5CDS-intronENST00000441350ENST00000327035VPS13Bchr8

100050794

+AHI1chr6

135644462

-
5CDS-intronENST00000441350ENST00000488690VPS13Bchr8

100050794

+AHI1chr6

135644462

-
5CDS-intronENST00000441350ENST00000367798VPS13Bchr8

100050794

+AHI1chr6

135644462

-
5CDS-intronENST00000441350ENST00000528103VPS13Bchr8

100050794

+AHI1chr6

135644462

-
5CDS-intronENST00000441350ENST00000534469VPS13Bchr8

100050794

+AHI1chr6

135644462

-
5CDS-intronENST00000441350ENST00000531527VPS13Bchr8

100050794

+AHI1chr6

135644462

-
intron-3CDSENST00000521932ENST00000367800VPS13Bchr8

100050794

+AHI1chr6

135644462

-
intron-3CDSENST00000521932ENST00000457866VPS13Bchr8

100050794

+AHI1chr6

135644462

-
intron-3CDSENST00000521932ENST00000417892VPS13Bchr8

100050794

+AHI1chr6

135644462

-
intron-intronENST00000521932ENST00000327035VPS13Bchr8

100050794

+AHI1chr6

135644462

-
intron-intronENST00000521932ENST00000488690VPS13Bchr8

100050794

+AHI1chr6

135644462

-
intron-intronENST00000521932ENST00000367798VPS13Bchr8

100050794

+AHI1chr6

135644462

-
intron-intronENST00000521932ENST00000528103VPS13Bchr8

100050794

+AHI1chr6

135644462

-
intron-intronENST00000521932ENST00000534469VPS13Bchr8

100050794

+AHI1chr6

135644462

-
intron-intronENST00000521932ENST00000531527VPS13Bchr8

100050794

+AHI1chr6

135644462

-

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FusionProtFeatures for VPS13B_AHI1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
VPS13B

Q7Z7G8

AHI1

Q8N157


check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneAHI1chr8:100050794chr6:135644462ENST00000327035-02313_45-931054Coiled coilOntology_term=ECO:0000255
TgeneAHI1chr8:100050794chr6:135644462ENST00000327035-023234_239-931054Compositional biasNote=Poly-Lys
TgeneAHI1chr8:100050794chr6:135644462ENST00000327035-0231051_1111-931054DomainSH3
TgeneAHI1chr8:100050794chr6:135644462ENST00000327035-023607_649-931054RepeatNote=WD 1
TgeneAHI1chr8:100050794chr6:135644462ENST00000327035-023652_691-931054RepeatNote=WD 2
TgeneAHI1chr8:100050794chr6:135644462ENST00000327035-023695_735-931054RepeatNote=WD 3
TgeneAHI1chr8:100050794chr6:135644462ENST00000327035-023742_781-931054RepeatNote=WD 4
TgeneAHI1chr8:100050794chr6:135644462ENST00000327035-023797_837-931054RepeatNote=WD 5
TgeneAHI1chr8:100050794chr6:135644462ENST00000327035-023841_880-931054RepeatNote=WD 6
TgeneAHI1chr8:100050794chr6:135644462ENST00000327035-023885_926-931054RepeatNote=WD 7

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneAHI1chr8:100050794chr6:135644462ENST00000367800-212713_4510551197Coiled coilOntology_term=ECO:0000255
TgeneAHI1chr8:100050794chr6:135644462ENST00000457866-222813_4510551197Coiled coilOntology_term=ECO:0000255
TgeneAHI1chr8:100050794chr6:135644462ENST00000367800-2127234_23910551197Compositional biasNote=Poly-Lys
TgeneAHI1chr8:100050794chr6:135644462ENST00000457866-2228234_23910551197Compositional biasNote=Poly-Lys
TgeneAHI1chr8:100050794chr6:135644462ENST00000367800-21271051_111110551197DomainSH3
TgeneAHI1chr8:100050794chr6:135644462ENST00000457866-22281051_111110551197DomainSH3
TgeneAHI1chr8:100050794chr6:135644462ENST00000367800-2127607_64910551197RepeatNote=WD 1
TgeneAHI1chr8:100050794chr6:135644462ENST00000367800-2127652_69110551197RepeatNote=WD 2
TgeneAHI1chr8:100050794chr6:135644462ENST00000367800-2127695_73510551197RepeatNote=WD 3
TgeneAHI1chr8:100050794chr6:135644462ENST00000367800-2127742_78110551197RepeatNote=WD 4
TgeneAHI1chr8:100050794chr6:135644462ENST00000367800-2127797_83710551197RepeatNote=WD 5
TgeneAHI1chr8:100050794chr6:135644462ENST00000367800-2127841_88010551197RepeatNote=WD 6
TgeneAHI1chr8:100050794chr6:135644462ENST00000367800-2127885_92610551197RepeatNote=WD 7
TgeneAHI1chr8:100050794chr6:135644462ENST00000457866-2228607_64910551197RepeatNote=WD 1
TgeneAHI1chr8:100050794chr6:135644462ENST00000457866-2228652_69110551197RepeatNote=WD 2
TgeneAHI1chr8:100050794chr6:135644462ENST00000457866-2228695_73510551197RepeatNote=WD 3
TgeneAHI1chr8:100050794chr6:135644462ENST00000457866-2228742_78110551197RepeatNote=WD 4
TgeneAHI1chr8:100050794chr6:135644462ENST00000457866-2228797_83710551197RepeatNote=WD 5
TgeneAHI1chr8:100050794chr6:135644462ENST00000457866-2228841_88010551197RepeatNote=WD 6
TgeneAHI1chr8:100050794chr6:135644462ENST00000457866-2228885_92610551197RepeatNote=WD 7


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FusionGeneSequence for VPS13B_AHI1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.
>In-frame_VPS13B_ENST00000395996_chr8_100050794_+_AHI1_ENST00000367800_chr6_135644462_-_239aa
MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSGHIHELRIHVPWTKLGSEPVVITINTMECIL
KLKDGIQVVALYDYTANRSDELTIHRGDIIRVFFKDNEDWWYGSIGKGQEGYFPANHVASETLYQELPPEIKERSPPLSPEEKTKIEKSP

>In-frame_VPS13B_ENST00000395996_chr8_100050794_+_AHI1_ENST00000457866_chr6_135644462_-_239aa
MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSGHIHELRIHVPWTKLGSEPVVITINTMECIL
KLKDGIQVVALYDYTANRSDELTIHRGDIIRVFFKDNEDWWYGSIGKGQEGYFPANHVASETLYQELPPEIKERSPPLSPEEKTKIEKSP

>In-frame_VPS13B_ENST00000395996_chr8_100050794_+_AHI1_ENST00000417892_chr6_135644462_-_187aa
MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSGHIHELRIHVPWTKLGSEPVVITINTMECIL
KLKDGIQVVALYDYTANRSDELTIHRGDIIRVFFKDNEDWWYGSIGKGQEGYFPANHVASETLYQELPPEIKERSPPLSPEEKTKIEKSP

>In-frame_VPS13B_ENST00000358544_chr8_100050794_+_AHI1_ENST00000367800_chr6_135644462_-_239aa
MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSGHIHELRIHVPWTKLGSEPVVITINTMECIL
KLKDGIQVVALYDYTANRSDELTIHRGDIIRVFFKDNEDWWYGSIGKGQEGYFPANHVASETLYQELPPEIKERSPPLSPEEKTKIEKSP

>In-frame_VPS13B_ENST00000358544_chr8_100050794_+_AHI1_ENST00000457866_chr6_135644462_-_239aa
MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSGHIHELRIHVPWTKLGSEPVVITINTMECIL
KLKDGIQVVALYDYTANRSDELTIHRGDIIRVFFKDNEDWWYGSIGKGQEGYFPANHVASETLYQELPPEIKERSPPLSPEEKTKIEKSP

>In-frame_VPS13B_ENST00000358544_chr8_100050794_+_AHI1_ENST00000417892_chr6_135644462_-_187aa
MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSGHIHELRIHVPWTKLGSEPVVITINTMECIL
KLKDGIQVVALYDYTANRSDELTIHRGDIIRVFFKDNEDWWYGSIGKGQEGYFPANHVASETLYQELPPEIKERSPPLSPEEKTKIEKSP

>In-frame_VPS13B_ENST00000357162_chr8_100050794_+_AHI1_ENST00000367800_chr6_135644462_-_239aa
MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSGHIHELRIHVPWTKLGSEPVVITINTMECIL
KLKDGIQVVALYDYTANRSDELTIHRGDIIRVFFKDNEDWWYGSIGKGQEGYFPANHVASETLYQELPPEIKERSPPLSPEEKTKIEKSP

>In-frame_VPS13B_ENST00000357162_chr8_100050794_+_AHI1_ENST00000457866_chr6_135644462_-_239aa
MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSGHIHELRIHVPWTKLGSEPVVITINTMECIL
KLKDGIQVVALYDYTANRSDELTIHRGDIIRVFFKDNEDWWYGSIGKGQEGYFPANHVASETLYQELPPEIKERSPPLSPEEKTKIEKSP

>In-frame_VPS13B_ENST00000357162_chr8_100050794_+_AHI1_ENST00000417892_chr6_135644462_-_187aa
MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSGHIHELRIHVPWTKLGSEPVVITINTMECIL
KLKDGIQVVALYDYTANRSDELTIHRGDIIRVFFKDNEDWWYGSIGKGQEGYFPANHVASETLYQELPPEIKERSPPLSPEEKTKIEKSP

>In-frame_VPS13B_ENST00000355155_chr8_100050794_+_AHI1_ENST00000367800_chr6_135644462_-_239aa
MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSGHIHELRIHVPWTKLGSEPVVITINTMECIL
KLKDGIQVVALYDYTANRSDELTIHRGDIIRVFFKDNEDWWYGSIGKGQEGYFPANHVASETLYQELPPEIKERSPPLSPEEKTKIEKSP

>In-frame_VPS13B_ENST00000355155_chr8_100050794_+_AHI1_ENST00000457866_chr6_135644462_-_239aa
MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSGHIHELRIHVPWTKLGSEPVVITINTMECIL
KLKDGIQVVALYDYTANRSDELTIHRGDIIRVFFKDNEDWWYGSIGKGQEGYFPANHVASETLYQELPPEIKERSPPLSPEEKTKIEKSP

>In-frame_VPS13B_ENST00000355155_chr8_100050794_+_AHI1_ENST00000417892_chr6_135644462_-_187aa
MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSGHIHELRIHVPWTKLGSEPVVITINTMECIL
KLKDGIQVVALYDYTANRSDELTIHRGDIIRVFFKDNEDWWYGSIGKGQEGYFPANHVASETLYQELPPEIKERSPPLSPEEKTKIEKSP

>In-frame_VPS13B_ENST00000441350_chr8_100050794_+_AHI1_ENST00000367800_chr6_135644462_-_239aa
MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSGHIHELRIHVPWTKLGSEPVVITINTMECIL
KLKDGIQVVALYDYTANRSDELTIHRGDIIRVFFKDNEDWWYGSIGKGQEGYFPANHVASETLYQELPPEIKERSPPLSPEEKTKIEKSP

>In-frame_VPS13B_ENST00000441350_chr8_100050794_+_AHI1_ENST00000457866_chr6_135644462_-_239aa
MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSGHIHELRIHVPWTKLGSEPVVITINTMECIL
KLKDGIQVVALYDYTANRSDELTIHRGDIIRVFFKDNEDWWYGSIGKGQEGYFPANHVASETLYQELPPEIKERSPPLSPEEKTKIEKSP

>In-frame_VPS13B_ENST00000441350_chr8_100050794_+_AHI1_ENST00000417892_chr6_135644462_-_187aa
MLESYVTPILMSYVNRYIKNLKPSDLQLSLWGGDVVLSKLELKLDVLEQELKLPFTFLSGHIHELRIHVPWTKLGSEPVVITINTMECIL
KLKDGIQVVALYDYTANRSDELTIHRGDIIRVFFKDNEDWWYGSIGKGQEGYFPANHVASETLYQELPPEIKERSPPLSPEEKTKIEKSP


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_VPS13B_ENST00000395996_chr8_100050794_+_AHI1_ENST00000367800_chr6_135644462_-_717nt
ATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCGTCGGATCTACAGCTTTCACTA
TGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTACCATTCACTTTTTTAAGTGGA
CATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATCAATACTATGGAATGCATTTTG
AAACTTAAGGATGGGATACAGGTAGTGGCTCTTTATGACTACACAGCGAATCGATCAGATGAACTAACCATCCATCGCGGAGACATTATC
CGAGTGTTTTTCAAAGATAATGAAGACTGGTGGTATGGCAGCATAGGAAAGGGACAGGAAGGTTATTTTCCAGCTAATCATGTGGCTAGT
GAAACACTGTATCAAGAACTGCCTCCTGAGATAAAGGAGCGATCCCCTCCTTTAAGCCCTGAGGAAAAAACTAAAATAGAAAAATCTCCA
GCTCCTCAAAAGCAATCAATCAATAAGAACAAGTCCCAGGACTTCAGACTAGGCTCAGAATCTATGACACATTCTGAAATGAGAAAAGAA

>In-frame_VPS13B_ENST00000395996_chr8_100050794_+_AHI1_ENST00000457866_chr6_135644462_-_717nt
ATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCGTCGGATCTACAGCTTTCACTA
TGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTACCATTCACTTTTTTAAGTGGA
CATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATCAATACTATGGAATGCATTTTG
AAACTTAAGGATGGGATACAGGTAGTGGCTCTTTATGACTACACAGCGAATCGATCAGATGAACTAACCATCCATCGCGGAGACATTATC
CGAGTGTTTTTCAAAGATAATGAAGACTGGTGGTATGGCAGCATAGGAAAGGGACAGGAAGGTTATTTTCCAGCTAATCATGTGGCTAGT
GAAACACTGTATCAAGAACTGCCTCCTGAGATAAAGGAGCGATCCCCTCCTTTAAGCCCTGAGGAAAAAACTAAAATAGAAAAATCTCCA
GCTCCTCAAAAGCAATCAATCAATAAGAACAAGTCCCAGGACTTCAGACTAGGCTCAGAATCTATGACACATTCTGAAATGAGAAAAGAA

>In-frame_VPS13B_ENST00000395996_chr8_100050794_+_AHI1_ENST00000417892_chr6_135644462_-_561nt
ATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCGTCGGATCTACAGCTTTCACTA
TGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTACCATTCACTTTTTTAAGTGGA
CATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATCAATACTATGGAATGCATTTTG
AAACTTAAGGATGGGATACAGGTAGTGGCTCTTTATGACTACACAGCGAATCGATCAGATGAACTAACCATCCATCGCGGAGACATTATC
CGAGTGTTTTTCAAAGATAATGAAGACTGGTGGTATGGCAGCATAGGAAAGGGACAGGAAGGTTATTTTCCAGCTAATCATGTGGCTAGT
GAAACACTGTATCAAGAACTGCCTCCTGAGATAAAGGAGCGATCCCCTCCTTTAAGCCCTGAGGAAAAAACTAAAATAGAAAAATCTCCA

>In-frame_VPS13B_ENST00000358544_chr8_100050794_+_AHI1_ENST00000367800_chr6_135644462_-_717nt
ATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCGTCGGATCTACAGCTTTCACTA
TGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTACCATTCACTTTTTTAAGTGGA
CATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATCAATACTATGGAATGCATTTTG
AAACTTAAGGATGGGATACAGGTAGTGGCTCTTTATGACTACACAGCGAATCGATCAGATGAACTAACCATCCATCGCGGAGACATTATC
CGAGTGTTTTTCAAAGATAATGAAGACTGGTGGTATGGCAGCATAGGAAAGGGACAGGAAGGTTATTTTCCAGCTAATCATGTGGCTAGT
GAAACACTGTATCAAGAACTGCCTCCTGAGATAAAGGAGCGATCCCCTCCTTTAAGCCCTGAGGAAAAAACTAAAATAGAAAAATCTCCA
GCTCCTCAAAAGCAATCAATCAATAAGAACAAGTCCCAGGACTTCAGACTAGGCTCAGAATCTATGACACATTCTGAAATGAGAAAAGAA

>In-frame_VPS13B_ENST00000358544_chr8_100050794_+_AHI1_ENST00000457866_chr6_135644462_-_717nt
ATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCGTCGGATCTACAGCTTTCACTA
TGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTACCATTCACTTTTTTAAGTGGA
CATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATCAATACTATGGAATGCATTTTG
AAACTTAAGGATGGGATACAGGTAGTGGCTCTTTATGACTACACAGCGAATCGATCAGATGAACTAACCATCCATCGCGGAGACATTATC
CGAGTGTTTTTCAAAGATAATGAAGACTGGTGGTATGGCAGCATAGGAAAGGGACAGGAAGGTTATTTTCCAGCTAATCATGTGGCTAGT
GAAACACTGTATCAAGAACTGCCTCCTGAGATAAAGGAGCGATCCCCTCCTTTAAGCCCTGAGGAAAAAACTAAAATAGAAAAATCTCCA
GCTCCTCAAAAGCAATCAATCAATAAGAACAAGTCCCAGGACTTCAGACTAGGCTCAGAATCTATGACACATTCTGAAATGAGAAAAGAA

>In-frame_VPS13B_ENST00000358544_chr8_100050794_+_AHI1_ENST00000417892_chr6_135644462_-_561nt
ATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCGTCGGATCTACAGCTTTCACTA
TGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTACCATTCACTTTTTTAAGTGGA
CATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATCAATACTATGGAATGCATTTTG
AAACTTAAGGATGGGATACAGGTAGTGGCTCTTTATGACTACACAGCGAATCGATCAGATGAACTAACCATCCATCGCGGAGACATTATC
CGAGTGTTTTTCAAAGATAATGAAGACTGGTGGTATGGCAGCATAGGAAAGGGACAGGAAGGTTATTTTCCAGCTAATCATGTGGCTAGT
GAAACACTGTATCAAGAACTGCCTCCTGAGATAAAGGAGCGATCCCCTCCTTTAAGCCCTGAGGAAAAAACTAAAATAGAAAAATCTCCA

>In-frame_VPS13B_ENST00000357162_chr8_100050794_+_AHI1_ENST00000367800_chr6_135644462_-_717nt
ATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCGTCGGATCTACAGCTTTCACTA
TGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTACCATTCACTTTTTTAAGTGGA
CATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATCAATACTATGGAATGCATTTTG
AAACTTAAGGATGGGATACAGGTAGTGGCTCTTTATGACTACACAGCGAATCGATCAGATGAACTAACCATCCATCGCGGAGACATTATC
CGAGTGTTTTTCAAAGATAATGAAGACTGGTGGTATGGCAGCATAGGAAAGGGACAGGAAGGTTATTTTCCAGCTAATCATGTGGCTAGT
GAAACACTGTATCAAGAACTGCCTCCTGAGATAAAGGAGCGATCCCCTCCTTTAAGCCCTGAGGAAAAAACTAAAATAGAAAAATCTCCA
GCTCCTCAAAAGCAATCAATCAATAAGAACAAGTCCCAGGACTTCAGACTAGGCTCAGAATCTATGACACATTCTGAAATGAGAAAAGAA

>In-frame_VPS13B_ENST00000357162_chr8_100050794_+_AHI1_ENST00000457866_chr6_135644462_-_717nt
ATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCGTCGGATCTACAGCTTTCACTA
TGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTACCATTCACTTTTTTAAGTGGA
CATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATCAATACTATGGAATGCATTTTG
AAACTTAAGGATGGGATACAGGTAGTGGCTCTTTATGACTACACAGCGAATCGATCAGATGAACTAACCATCCATCGCGGAGACATTATC
CGAGTGTTTTTCAAAGATAATGAAGACTGGTGGTATGGCAGCATAGGAAAGGGACAGGAAGGTTATTTTCCAGCTAATCATGTGGCTAGT
GAAACACTGTATCAAGAACTGCCTCCTGAGATAAAGGAGCGATCCCCTCCTTTAAGCCCTGAGGAAAAAACTAAAATAGAAAAATCTCCA
GCTCCTCAAAAGCAATCAATCAATAAGAACAAGTCCCAGGACTTCAGACTAGGCTCAGAATCTATGACACATTCTGAAATGAGAAAAGAA

>In-frame_VPS13B_ENST00000357162_chr8_100050794_+_AHI1_ENST00000417892_chr6_135644462_-_561nt
ATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCGTCGGATCTACAGCTTTCACTA
TGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTACCATTCACTTTTTTAAGTGGA
CATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATCAATACTATGGAATGCATTTTG
AAACTTAAGGATGGGATACAGGTAGTGGCTCTTTATGACTACACAGCGAATCGATCAGATGAACTAACCATCCATCGCGGAGACATTATC
CGAGTGTTTTTCAAAGATAATGAAGACTGGTGGTATGGCAGCATAGGAAAGGGACAGGAAGGTTATTTTCCAGCTAATCATGTGGCTAGT
GAAACACTGTATCAAGAACTGCCTCCTGAGATAAAGGAGCGATCCCCTCCTTTAAGCCCTGAGGAAAAAACTAAAATAGAAAAATCTCCA

>In-frame_VPS13B_ENST00000355155_chr8_100050794_+_AHI1_ENST00000367800_chr6_135644462_-_717nt
ATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCGTCGGATCTACAGCTTTCACTA
TGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTACCATTCACTTTTTTAAGTGGA
CATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATCAATACTATGGAATGCATTTTG
AAACTTAAGGATGGGATACAGGTAGTGGCTCTTTATGACTACACAGCGAATCGATCAGATGAACTAACCATCCATCGCGGAGACATTATC
CGAGTGTTTTTCAAAGATAATGAAGACTGGTGGTATGGCAGCATAGGAAAGGGACAGGAAGGTTATTTTCCAGCTAATCATGTGGCTAGT
GAAACACTGTATCAAGAACTGCCTCCTGAGATAAAGGAGCGATCCCCTCCTTTAAGCCCTGAGGAAAAAACTAAAATAGAAAAATCTCCA
GCTCCTCAAAAGCAATCAATCAATAAGAACAAGTCCCAGGACTTCAGACTAGGCTCAGAATCTATGACACATTCTGAAATGAGAAAAGAA

>In-frame_VPS13B_ENST00000355155_chr8_100050794_+_AHI1_ENST00000457866_chr6_135644462_-_717nt
ATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCGTCGGATCTACAGCTTTCACTA
TGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTACCATTCACTTTTTTAAGTGGA
CATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATCAATACTATGGAATGCATTTTG
AAACTTAAGGATGGGATACAGGTAGTGGCTCTTTATGACTACACAGCGAATCGATCAGATGAACTAACCATCCATCGCGGAGACATTATC
CGAGTGTTTTTCAAAGATAATGAAGACTGGTGGTATGGCAGCATAGGAAAGGGACAGGAAGGTTATTTTCCAGCTAATCATGTGGCTAGT
GAAACACTGTATCAAGAACTGCCTCCTGAGATAAAGGAGCGATCCCCTCCTTTAAGCCCTGAGGAAAAAACTAAAATAGAAAAATCTCCA
GCTCCTCAAAAGCAATCAATCAATAAGAACAAGTCCCAGGACTTCAGACTAGGCTCAGAATCTATGACACATTCTGAAATGAGAAAAGAA

>In-frame_VPS13B_ENST00000355155_chr8_100050794_+_AHI1_ENST00000417892_chr6_135644462_-_561nt
ATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCGTCGGATCTACAGCTTTCACTA
TGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTACCATTCACTTTTTTAAGTGGA
CATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATCAATACTATGGAATGCATTTTG
AAACTTAAGGATGGGATACAGGTAGTGGCTCTTTATGACTACACAGCGAATCGATCAGATGAACTAACCATCCATCGCGGAGACATTATC
CGAGTGTTTTTCAAAGATAATGAAGACTGGTGGTATGGCAGCATAGGAAAGGGACAGGAAGGTTATTTTCCAGCTAATCATGTGGCTAGT
GAAACACTGTATCAAGAACTGCCTCCTGAGATAAAGGAGCGATCCCCTCCTTTAAGCCCTGAGGAAAAAACTAAAATAGAAAAATCTCCA

>In-frame_VPS13B_ENST00000441350_chr8_100050794_+_AHI1_ENST00000367800_chr6_135644462_-_717nt
ATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCGTCGGATCTACAGCTTTCACTA
TGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTACCATTCACTTTTTTAAGTGGA
CATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATCAATACTATGGAATGCATTTTG
AAACTTAAGGATGGGATACAGGTAGTGGCTCTTTATGACTACACAGCGAATCGATCAGATGAACTAACCATCCATCGCGGAGACATTATC
CGAGTGTTTTTCAAAGATAATGAAGACTGGTGGTATGGCAGCATAGGAAAGGGACAGGAAGGTTATTTTCCAGCTAATCATGTGGCTAGT
GAAACACTGTATCAAGAACTGCCTCCTGAGATAAAGGAGCGATCCCCTCCTTTAAGCCCTGAGGAAAAAACTAAAATAGAAAAATCTCCA
GCTCCTCAAAAGCAATCAATCAATAAGAACAAGTCCCAGGACTTCAGACTAGGCTCAGAATCTATGACACATTCTGAAATGAGAAAAGAA

>In-frame_VPS13B_ENST00000441350_chr8_100050794_+_AHI1_ENST00000457866_chr6_135644462_-_717nt
ATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCGTCGGATCTACAGCTTTCACTA
TGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTACCATTCACTTTTTTAAGTGGA
CATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATCAATACTATGGAATGCATTTTG
AAACTTAAGGATGGGATACAGGTAGTGGCTCTTTATGACTACACAGCGAATCGATCAGATGAACTAACCATCCATCGCGGAGACATTATC
CGAGTGTTTTTCAAAGATAATGAAGACTGGTGGTATGGCAGCATAGGAAAGGGACAGGAAGGTTATTTTCCAGCTAATCATGTGGCTAGT
GAAACACTGTATCAAGAACTGCCTCCTGAGATAAAGGAGCGATCCCCTCCTTTAAGCCCTGAGGAAAAAACTAAAATAGAAAAATCTCCA
GCTCCTCAAAAGCAATCAATCAATAAGAACAAGTCCCAGGACTTCAGACTAGGCTCAGAATCTATGACACATTCTGAAATGAGAAAAGAA

>In-frame_VPS13B_ENST00000441350_chr8_100050794_+_AHI1_ENST00000417892_chr6_135644462_-_561nt
ATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCGTCGGATCTACAGCTTTCACTA
TGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTACCATTCACTTTTTTAAGTGGA
CATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATCAATACTATGGAATGCATTTTG
AAACTTAAGGATGGGATACAGGTAGTGGCTCTTTATGACTACACAGCGAATCGATCAGATGAACTAACCATCCATCGCGGAGACATTATC
CGAGTGTTTTTCAAAGATAATGAAGACTGGTGGTATGGCAGCATAGGAAAGGGACAGGAAGGTTATTTTCCAGCTAATCATGTGGCTAGT
GAAACACTGTATCAAGAACTGCCTCCTGAGATAAAGGAGCGATCCCCTCCTTTAAGCCCTGAGGAAAAAACTAAAATAGAAAAATCTCCA


* Fusion transcript sequences (Full-length transcript).
>In-frame_VPS13B_ENST00000395996_chr8_100050794_+_AHI1_ENST00000367800_chr6_135644462_-_2941nt
GGCGCGGTACAGGAGCAGCACTGCCGGCGGGGGCGGGTGCCAGGGACTTGGAGGTGGAGGGGACGCGGCGGTACTCTGGCGTCTTCCGAC
TTCGACTCCTTACCTTAAAAGATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCG
TCGGATCTACAGCTTTCACTATGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTA
CCATTCACTTTTTTAAGTGGACATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATC
AATACTATGGAATGCATTTTGAAACTTAAGGATGGGATACAGGTAGTGGCTCTTTATGACTACACAGCGAATCGATCAGATGAACTAACC
ATCCATCGCGGAGACATTATCCGAGTGTTTTTCAAAGATAATGAAGACTGGTGGTATGGCAGCATAGGAAAGGGACAGGAAGGTTATTTT
CCAGCTAATCATGTGGCTAGTGAAACACTGTATCAAGAACTGCCTCCTGAGATAAAGGAGCGATCCCCTCCTTTAAGCCCTGAGGAAAAA
ACTAAAATAGAAAAATCTCCAGCTCCTCAAAAGCAATCAATCAATAAGAACAAGTCCCAGGACTTCAGACTAGGCTCAGAATCTATGACA
CATTCTGAAATGAGAAAAGAACAGAGCCATGAGGACCAAGGACACATAATGGATACACGGATGAGGAAGAACAAGCAAGCAGGCAGAAAA
GTCACTCTAATAGAGTAAAGAATTGAAGAAAAGTTAAGAGCTGCCGAAATGCACAGAGGTGAAAATGACAAACCAAATGGAATTTCTCTT
CAGAGTTCAGAATTTTCAGATACTAAGGAGGAAGAAAGGATCCACTACTTCTTGTTCTTATGAATGACTCTAGAAAAATCAGAATCAAGT
TGTGGGTGGAAAAATCAACGTGGCCTTTGAGTTCAGTTGTTATAAACCATTGTGACTATTGTTGGTCAAAGTATTGGTACTTATATTGTT
AGTAATTGCATCATAATTACATTACCAGTGTTGGAAAACTAATGAAGAAAACACTGTAATTGCTACTCAGCAAATGTGAATAAAAGGTGT
TTGCGTTATTAGGATGTCTGTTAAGTAATCATTTAATATTATTATATTGGTAATGGTTGTATGTGTGATGCTATGCCCAGAATATGAAGT
ATCTGTTTTTGAAATTCACTTTATTTAAAAGATAAGCAGCTGACTGGGCACGGTGCCTCATGCCTGTAATCCTAGCACCTTGGGAGGCTG
AGGCAGGTGGATCACCTAAGGTCAGGAGTTCAACAACACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATCA
GCCGGGTCTCATGGCAGGCACCTGTAATCCCATCTACTGAGGCAGGAGAATTGCTTGACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGAT
CACGCCATTGCACTCCAGCCTGGGGGACAGAGCAAGACTCTATCTCCAAAAAACAAAAAAGATAAGCAGCTTTAGAATATGGCGCATTCA
AAACAGTCTCAGTAACAAAGACATTAAAAGAAAACAATTTACTTTCTAATTAAAATTTTGTGTTTCTTAAGATCAAATCATATAGGTAAC
TTCATAGACCTAAATTAAAAGTGATTTTTGGCTGGACTGGCAACAATGTTCCCAATGTCTTTACTTTTTAAAAAAGGCTTTTCATATTTA
AGCACATACCTATTTTGTAGACTTACATTGTTTAATATTTATTTTAATCTTAATATTTTTACATTATTATATTGCATTATTTATTTTTTC
TAAGTTCCAGAATAATAGTGTCATTATTATAGACTATATGTTTTGAAGTTTGATATTATAATGGGATATTCATTTTTTGTTCTTTTCTTG
ACTCCTTTCTCAAGTGTGTGATAAGGTCTGCTGATAAAATATTTAACCCCAAGAAAGTGAAAACTAATATAAAATTAGAAAGACCTATCC
AAATTAGACAGTCAATTCCATTAAAATAAGAAGTGAGAAAAACAATGTTGGGCATTGAGGTGTAAATTTTGCCCAGATGTATACCCAGTG
TGAAATATCTTCTAATAAAAATATATTTGGCTCTTATCCCTGCACATGTAGAGGCATAAAAATTGGTAAACATGTCCCGCTGTGTAGAAC
TTTAAAAAAAAGGCATTTTTGAAAGTGTTGAGTGGCACTGATAACTGGTGAAGCCTACAGCCATCCGCCCAAAAGTCTGTTCTGATGGCA
CTGAGTTTTCATTGTTCTGGATGTATAAGTCTGTGTGTCAGGTACAGCTGGGCCCAGCCAGCTTGAGTCACTCTTGTACAAGCTTGTTTT
TTTCTGTCTTGTGAATGCACTTGATAATTTAAAAATAAAAATATCTGTTTCTCTGCAGTTTCAGCTAATAATTTTGAGATATGTGTTGAT
TTTCTGATTGAATCACCAAGAATTTCAACAAGTTTAGAAATAATTTAAGATGAATGAAAAATATGTCAGGGGGAGCTAAGCATTTGCTAA
GCTCTTGATGTTTATATGAAAAATAAAGGGTTGTTTTTATATTGCAACTACTAAAGAGAAAAATAGCAGTTGAAGCAAACACCAGGAAAA
TTTGGCTCTACTGAAAGCCCAGTCCTTTTCCCCTTTGTCTCGCTGACAAAGTAAGACTAGGGTTATGTTCATGAATAGATTAATAAAAGA
TGTTTCTTTACCACACAATCTGAGATGAGATGGGGTGGGGGAGATCATGACAGTGCCCTCCAAGCAATAGATCCAGCTGATAATCAAGCA

>In-frame_VPS13B_ENST00000395996_chr8_100050794_+_AHI1_ENST00000457866_chr6_135644462_-_2487nt
GGCGCGGTACAGGAGCAGCACTGCCGGCGGGGGCGGGTGCCAGGGACTTGGAGGTGGAGGGGACGCGGCGGTACTCTGGCGTCTTCCGAC
TTCGACTCCTTACCTTAAAAGATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCG
TCGGATCTACAGCTTTCACTATGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTA
CCATTCACTTTTTTAAGTGGACATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATC
AATACTATGGAATGCATTTTGAAACTTAAGGATGGGATACAGGTAGTGGCTCTTTATGACTACACAGCGAATCGATCAGATGAACTAACC
ATCCATCGCGGAGACATTATCCGAGTGTTTTTCAAAGATAATGAAGACTGGTGGTATGGCAGCATAGGAAAGGGACAGGAAGGTTATTTT
CCAGCTAATCATGTGGCTAGTGAAACACTGTATCAAGAACTGCCTCCTGAGATAAAGGAGCGATCCCCTCCTTTAAGCCCTGAGGAAAAA
ACTAAAATAGAAAAATCTCCAGCTCCTCAAAAGCAATCAATCAATAAGAACAAGTCCCAGGACTTCAGACTAGGCTCAGAATCTATGACA
CATTCTGAAATGAGAAAAGAACAGAGCCATGAGGACCAAGGACACATAATGGATACACGGATGAGGAAGAACAAGCAAGCAGGCAGAAAA
GTCACTCTAATAGAGTAAAGAATTGAAGAAAAGTTAAGAGCTGCCGAAATGCACAGAGGTGAAAATGACAAACCAAATGGAATTTCTCTT
CAGAGTTCAGAATTTTCAGATACTAAGGAGGAAGAAAGGATCCACTACTTCTTGTTCTTATGAATGACTCTAGAAAAATCAGAATCAAGT
TGTGGGTGGAAAAATCAACGTGGCCTTTGAGTTCAGTTGTTATAAACCATTGTGACTATTGTTGGTCAAAGTATTGGTACTTATATTGTT
AGTAATTGCATCATAATTACATTACCAGTGTTGGAAAACTAATGAAGAAAACACTGTAATTGCTACTCAGCAAATGTGAATAAAAGGTGT
TTGCGTTATTAGGATGTCTGTTAAGTAATCATTTAATATTATTATATTGGTAATGGTTGTATGTGTGATGCTATGCCCAGAATATGAAGT
ATCTGTTTTTGAAATTCACTTTATTTAAAAGATAAGCAGCTGACTGGGCACGGTGCCTCATGCCTGTAATCCTAGCACCTTGGGAGGCTG
AGGCAGGTGGATCACCTAAGGTCAGGAGTTCAACAACACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATCA
GCCGGGTCTCATGGCAGGCACCTGTAATCCCATCTACTGAGGCAGGAGAATTGCTTGACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGAT
CACGCCATTGCACTCCAGCCTGGGGGACAGAGCAAGACTCTATCTCCAAAAAACAAAAAAGATAAGCAGCTTTAGAATATGGCGCATTCA
AAACAGTCTCAGTAACAAAGACATTAAAAGAAAACAATTTACTTTCTAATTAAAATTTTGTGTTTCTTAAGATCAAATCATATAGGTAAC
TTCATAGACCTAAATTAAAAGTGATTTTTGGCTGGACTGGCAACAATGTTCCCAATGTCTTTACTTTTTAAAAAAGGCTTTTCATATTTA
AGCACATACCTATTTTGTAGACTTACATTGTTTAATATTTATTTTAATCTTAATATTTTTACATTATTATATTGCATTATTTATTTTTTC
TAAGTTCCAGAATAATAGTGTCATTATTATAGACTATATGTTTTGAAGTTTGATATTATAATGGGATATTCATTTTTTGTTCTTTTCTTG
ACTCCTTTCTCAAGTGTGTGATAAGGTCTGCTGATAAAATATTTAACCCCAAGAAAGTGAAAACTAATATAAAATTAGAAAGACCTATCC
AAATTAGACAGTCAATTCCATTAAAATAAGAAGTGAGAAAAACAATGTTGGGCATTGAGGTGTAAATTTTGCCCAGATGTATACCCAGTG
TGAAATATCTTCTAATAAAAATATATTTGGCTCTTATCCCTGCACATGTAGAGGCATAAAAATTGGTAAACATGTCCCGCTGTGTAGAAC
TTTAAAAAAAAGGCATTTTTGAAAGTGTTGAGTGGCACTGATAACTGGTGAAGCCTACAGCCATCCGCCCAAAAGTCTGTTCTGATGGCA
CTGAGTTTTCATTGTTCTGGATGTATAAGTCTGTGTGTCAGGTACAGCTGGGCCCAGCCAGCTTGAGTCACTCTTGTACAAGCTTGTTTT

>In-frame_VPS13B_ENST00000395996_chr8_100050794_+_AHI1_ENST00000417892_chr6_135644462_-_1965nt
GGCGCGGTACAGGAGCAGCACTGCCGGCGGGGGCGGGTGCCAGGGACTTGGAGGTGGAGGGGACGCGGCGGTACTCTGGCGTCTTCCGAC
TTCGACTCCTTACCTTAAAAGATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCG
TCGGATCTACAGCTTTCACTATGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTA
CCATTCACTTTTTTAAGTGGACATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATC
AATACTATGGAATGCATTTTGAAACTTAAGGATGGGATACAGGTAGTGGCTCTTTATGACTACACAGCGAATCGATCAGATGAACTAACC
ATCCATCGCGGAGACATTATCCGAGTGTTTTTCAAAGATAATGAAGACTGGTGGTATGGCAGCATAGGAAAGGGACAGGAAGGTTATTTT
CCAGCTAATCATGTGGCTAGTGAAACACTGTATCAAGAACTGCCTCCTGAGATAAAGGAGCGATCCCCTCCTTTAAGCCCTGAGGAAAAA
ACTAAAATAGAAAAATCTCCAGCTCCTCAAAAGGTAAAATAAAACAAAACAGCTCACAGAGACACCTCCTTCTTCCCCCTGCTTCTGCCT
CCATGAGTAACTACCTATATGACGTGCTGCTGCTGAGACCAAGGAATGAATAGTGCCAAATCTTGCTGAAGAATGATCTTGCAGAAATCT
GATTGTGAAGAAGGAAATCTAAAAAGGCCAAACAAGCTTCAGTAGAGATAACACCAGGAAAGCAGTTACTCAAACAAGACTGAAAGAGAA
GCAATCAATCAATAAGAACAAGTCCCAGGACTTCAGACTAGGCTCAGAATCTATGACACATTCTGAAATGAGAAAAGAACAGAGCCATGA
GGACCAAGGACACATAATGGATACACGGATGAGGAAGAACAAGCAAGCAGGCAGAAAAGTCACTCTAATAGAGTGTGCCAGCTGTCACTT
TTCTCAGGAGTGGTCGATGGAGTTGACTGCTACCTTAACCAGATTTGCCATCGTTCTGAAACTGCCGTGTGTTTTCTAAGGACAACCAGG
TGTTAAGCCTTTCTCTTTAGAAGAAGGACAGTAACCTTTCTGTTAAAGAATTGAAGAAAAGTTAAGAGCTGCCGAAATGCACAGAGGTGA
AAATGACAAACCAAATGGAATTTCTCTTCAGAGTTCAGAATTTTCAGATACTAAGGAGGAAGAAAGGATCCACTACTTCTTGTTCTTATG
AATGACTCTAGAAAAATCAGAATCAAGTTGTGGGTGGAAAAATCAACGTGGCCTTTGAGTTCAGTTGTTATAAACCATTGTGACTATTGT
TGGTCAAAGTATTGGTACTTATATTGTTAGTAATTGCATCATAATTACATTACCAGTGTTGGAAAACTAATGAAGAAAACACTGTAATTG
CTACTCAGCAAATGTGAATAAAAGGTGTTTGCGTTATTAGGATGTCTGTTAAGTAATCATTTAATATTATTATATTGGTAATGGTTGTAT
GTGTGATGCTATGCCCAGAATATGAAGTATCTGTTTTTGAAATTCACTTTATTTAAAAGATAAGCAGCTGACTGGGCACGGTGCCTCATG
CCTGTAATCCTAGCACCTTGGGAGGCTGAGGCAGGTGGATCACCTAAGGTCAGGAGTTCAACAACACCAGCCTGACCAACATGGTGAAAC
CCCATCTCTACTAAAAATACAAAAATCAGCCGGGTCTCATGGCAGGCACCTGTAATCCCATCTACTGAGGCAGGAGAATTGCTTGACCCA

>In-frame_VPS13B_ENST00000358544_chr8_100050794_+_AHI1_ENST00000367800_chr6_135644462_-_2941nt
GGCGCGGTACAGGAGCAGCACTGCCGGCGGGGGCGGGTGCCAGGGACTTGGAGGTGGAGGGGACGCGGCGGTACTCTGGCGTCTTCCGAC
TTCGACTCCTTACCTTAAAAGATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCG
TCGGATCTACAGCTTTCACTATGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTA
CCATTCACTTTTTTAAGTGGACATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATC
AATACTATGGAATGCATTTTGAAACTTAAGGATGGGATACAGGTAGTGGCTCTTTATGACTACACAGCGAATCGATCAGATGAACTAACC
ATCCATCGCGGAGACATTATCCGAGTGTTTTTCAAAGATAATGAAGACTGGTGGTATGGCAGCATAGGAAAGGGACAGGAAGGTTATTTT
CCAGCTAATCATGTGGCTAGTGAAACACTGTATCAAGAACTGCCTCCTGAGATAAAGGAGCGATCCCCTCCTTTAAGCCCTGAGGAAAAA
ACTAAAATAGAAAAATCTCCAGCTCCTCAAAAGCAATCAATCAATAAGAACAAGTCCCAGGACTTCAGACTAGGCTCAGAATCTATGACA
CATTCTGAAATGAGAAAAGAACAGAGCCATGAGGACCAAGGACACATAATGGATACACGGATGAGGAAGAACAAGCAAGCAGGCAGAAAA
GTCACTCTAATAGAGTAAAGAATTGAAGAAAAGTTAAGAGCTGCCGAAATGCACAGAGGTGAAAATGACAAACCAAATGGAATTTCTCTT
CAGAGTTCAGAATTTTCAGATACTAAGGAGGAAGAAAGGATCCACTACTTCTTGTTCTTATGAATGACTCTAGAAAAATCAGAATCAAGT
TGTGGGTGGAAAAATCAACGTGGCCTTTGAGTTCAGTTGTTATAAACCATTGTGACTATTGTTGGTCAAAGTATTGGTACTTATATTGTT
AGTAATTGCATCATAATTACATTACCAGTGTTGGAAAACTAATGAAGAAAACACTGTAATTGCTACTCAGCAAATGTGAATAAAAGGTGT
TTGCGTTATTAGGATGTCTGTTAAGTAATCATTTAATATTATTATATTGGTAATGGTTGTATGTGTGATGCTATGCCCAGAATATGAAGT
ATCTGTTTTTGAAATTCACTTTATTTAAAAGATAAGCAGCTGACTGGGCACGGTGCCTCATGCCTGTAATCCTAGCACCTTGGGAGGCTG
AGGCAGGTGGATCACCTAAGGTCAGGAGTTCAACAACACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATCA
GCCGGGTCTCATGGCAGGCACCTGTAATCCCATCTACTGAGGCAGGAGAATTGCTTGACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGAT
CACGCCATTGCACTCCAGCCTGGGGGACAGAGCAAGACTCTATCTCCAAAAAACAAAAAAGATAAGCAGCTTTAGAATATGGCGCATTCA
AAACAGTCTCAGTAACAAAGACATTAAAAGAAAACAATTTACTTTCTAATTAAAATTTTGTGTTTCTTAAGATCAAATCATATAGGTAAC
TTCATAGACCTAAATTAAAAGTGATTTTTGGCTGGACTGGCAACAATGTTCCCAATGTCTTTACTTTTTAAAAAAGGCTTTTCATATTTA
AGCACATACCTATTTTGTAGACTTACATTGTTTAATATTTATTTTAATCTTAATATTTTTACATTATTATATTGCATTATTTATTTTTTC
TAAGTTCCAGAATAATAGTGTCATTATTATAGACTATATGTTTTGAAGTTTGATATTATAATGGGATATTCATTTTTTGTTCTTTTCTTG
ACTCCTTTCTCAAGTGTGTGATAAGGTCTGCTGATAAAATATTTAACCCCAAGAAAGTGAAAACTAATATAAAATTAGAAAGACCTATCC
AAATTAGACAGTCAATTCCATTAAAATAAGAAGTGAGAAAAACAATGTTGGGCATTGAGGTGTAAATTTTGCCCAGATGTATACCCAGTG
TGAAATATCTTCTAATAAAAATATATTTGGCTCTTATCCCTGCACATGTAGAGGCATAAAAATTGGTAAACATGTCCCGCTGTGTAGAAC
TTTAAAAAAAAGGCATTTTTGAAAGTGTTGAGTGGCACTGATAACTGGTGAAGCCTACAGCCATCCGCCCAAAAGTCTGTTCTGATGGCA
CTGAGTTTTCATTGTTCTGGATGTATAAGTCTGTGTGTCAGGTACAGCTGGGCCCAGCCAGCTTGAGTCACTCTTGTACAAGCTTGTTTT
TTTCTGTCTTGTGAATGCACTTGATAATTTAAAAATAAAAATATCTGTTTCTCTGCAGTTTCAGCTAATAATTTTGAGATATGTGTTGAT
TTTCTGATTGAATCACCAAGAATTTCAACAAGTTTAGAAATAATTTAAGATGAATGAAAAATATGTCAGGGGGAGCTAAGCATTTGCTAA
GCTCTTGATGTTTATATGAAAAATAAAGGGTTGTTTTTATATTGCAACTACTAAAGAGAAAAATAGCAGTTGAAGCAAACACCAGGAAAA
TTTGGCTCTACTGAAAGCCCAGTCCTTTTCCCCTTTGTCTCGCTGACAAAGTAAGACTAGGGTTATGTTCATGAATAGATTAATAAAAGA
TGTTTCTTTACCACACAATCTGAGATGAGATGGGGTGGGGGAGATCATGACAGTGCCCTCCAAGCAATAGATCCAGCTGATAATCAAGCA

>In-frame_VPS13B_ENST00000358544_chr8_100050794_+_AHI1_ENST00000457866_chr6_135644462_-_2487nt
GGCGCGGTACAGGAGCAGCACTGCCGGCGGGGGCGGGTGCCAGGGACTTGGAGGTGGAGGGGACGCGGCGGTACTCTGGCGTCTTCCGAC
TTCGACTCCTTACCTTAAAAGATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCG
TCGGATCTACAGCTTTCACTATGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTA
CCATTCACTTTTTTAAGTGGACATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATC
AATACTATGGAATGCATTTTGAAACTTAAGGATGGGATACAGGTAGTGGCTCTTTATGACTACACAGCGAATCGATCAGATGAACTAACC
ATCCATCGCGGAGACATTATCCGAGTGTTTTTCAAAGATAATGAAGACTGGTGGTATGGCAGCATAGGAAAGGGACAGGAAGGTTATTTT
CCAGCTAATCATGTGGCTAGTGAAACACTGTATCAAGAACTGCCTCCTGAGATAAAGGAGCGATCCCCTCCTTTAAGCCCTGAGGAAAAA
ACTAAAATAGAAAAATCTCCAGCTCCTCAAAAGCAATCAATCAATAAGAACAAGTCCCAGGACTTCAGACTAGGCTCAGAATCTATGACA
CATTCTGAAATGAGAAAAGAACAGAGCCATGAGGACCAAGGACACATAATGGATACACGGATGAGGAAGAACAAGCAAGCAGGCAGAAAA
GTCACTCTAATAGAGTAAAGAATTGAAGAAAAGTTAAGAGCTGCCGAAATGCACAGAGGTGAAAATGACAAACCAAATGGAATTTCTCTT
CAGAGTTCAGAATTTTCAGATACTAAGGAGGAAGAAAGGATCCACTACTTCTTGTTCTTATGAATGACTCTAGAAAAATCAGAATCAAGT
TGTGGGTGGAAAAATCAACGTGGCCTTTGAGTTCAGTTGTTATAAACCATTGTGACTATTGTTGGTCAAAGTATTGGTACTTATATTGTT
AGTAATTGCATCATAATTACATTACCAGTGTTGGAAAACTAATGAAGAAAACACTGTAATTGCTACTCAGCAAATGTGAATAAAAGGTGT
TTGCGTTATTAGGATGTCTGTTAAGTAATCATTTAATATTATTATATTGGTAATGGTTGTATGTGTGATGCTATGCCCAGAATATGAAGT
ATCTGTTTTTGAAATTCACTTTATTTAAAAGATAAGCAGCTGACTGGGCACGGTGCCTCATGCCTGTAATCCTAGCACCTTGGGAGGCTG
AGGCAGGTGGATCACCTAAGGTCAGGAGTTCAACAACACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATCA
GCCGGGTCTCATGGCAGGCACCTGTAATCCCATCTACTGAGGCAGGAGAATTGCTTGACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGAT
CACGCCATTGCACTCCAGCCTGGGGGACAGAGCAAGACTCTATCTCCAAAAAACAAAAAAGATAAGCAGCTTTAGAATATGGCGCATTCA
AAACAGTCTCAGTAACAAAGACATTAAAAGAAAACAATTTACTTTCTAATTAAAATTTTGTGTTTCTTAAGATCAAATCATATAGGTAAC
TTCATAGACCTAAATTAAAAGTGATTTTTGGCTGGACTGGCAACAATGTTCCCAATGTCTTTACTTTTTAAAAAAGGCTTTTCATATTTA
AGCACATACCTATTTTGTAGACTTACATTGTTTAATATTTATTTTAATCTTAATATTTTTACATTATTATATTGCATTATTTATTTTTTC
TAAGTTCCAGAATAATAGTGTCATTATTATAGACTATATGTTTTGAAGTTTGATATTATAATGGGATATTCATTTTTTGTTCTTTTCTTG
ACTCCTTTCTCAAGTGTGTGATAAGGTCTGCTGATAAAATATTTAACCCCAAGAAAGTGAAAACTAATATAAAATTAGAAAGACCTATCC
AAATTAGACAGTCAATTCCATTAAAATAAGAAGTGAGAAAAACAATGTTGGGCATTGAGGTGTAAATTTTGCCCAGATGTATACCCAGTG
TGAAATATCTTCTAATAAAAATATATTTGGCTCTTATCCCTGCACATGTAGAGGCATAAAAATTGGTAAACATGTCCCGCTGTGTAGAAC
TTTAAAAAAAAGGCATTTTTGAAAGTGTTGAGTGGCACTGATAACTGGTGAAGCCTACAGCCATCCGCCCAAAAGTCTGTTCTGATGGCA
CTGAGTTTTCATTGTTCTGGATGTATAAGTCTGTGTGTCAGGTACAGCTGGGCCCAGCCAGCTTGAGTCACTCTTGTACAAGCTTGTTTT

>In-frame_VPS13B_ENST00000358544_chr8_100050794_+_AHI1_ENST00000417892_chr6_135644462_-_1965nt
GGCGCGGTACAGGAGCAGCACTGCCGGCGGGGGCGGGTGCCAGGGACTTGGAGGTGGAGGGGACGCGGCGGTACTCTGGCGTCTTCCGAC
TTCGACTCCTTACCTTAAAAGATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCG
TCGGATCTACAGCTTTCACTATGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTA
CCATTCACTTTTTTAAGTGGACATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATC
AATACTATGGAATGCATTTTGAAACTTAAGGATGGGATACAGGTAGTGGCTCTTTATGACTACACAGCGAATCGATCAGATGAACTAACC
ATCCATCGCGGAGACATTATCCGAGTGTTTTTCAAAGATAATGAAGACTGGTGGTATGGCAGCATAGGAAAGGGACAGGAAGGTTATTTT
CCAGCTAATCATGTGGCTAGTGAAACACTGTATCAAGAACTGCCTCCTGAGATAAAGGAGCGATCCCCTCCTTTAAGCCCTGAGGAAAAA
ACTAAAATAGAAAAATCTCCAGCTCCTCAAAAGGTAAAATAAAACAAAACAGCTCACAGAGACACCTCCTTCTTCCCCCTGCTTCTGCCT
CCATGAGTAACTACCTATATGACGTGCTGCTGCTGAGACCAAGGAATGAATAGTGCCAAATCTTGCTGAAGAATGATCTTGCAGAAATCT
GATTGTGAAGAAGGAAATCTAAAAAGGCCAAACAAGCTTCAGTAGAGATAACACCAGGAAAGCAGTTACTCAAACAAGACTGAAAGAGAA
GCAATCAATCAATAAGAACAAGTCCCAGGACTTCAGACTAGGCTCAGAATCTATGACACATTCTGAAATGAGAAAAGAACAGAGCCATGA
GGACCAAGGACACATAATGGATACACGGATGAGGAAGAACAAGCAAGCAGGCAGAAAAGTCACTCTAATAGAGTGTGCCAGCTGTCACTT
TTCTCAGGAGTGGTCGATGGAGTTGACTGCTACCTTAACCAGATTTGCCATCGTTCTGAAACTGCCGTGTGTTTTCTAAGGACAACCAGG
TGTTAAGCCTTTCTCTTTAGAAGAAGGACAGTAACCTTTCTGTTAAAGAATTGAAGAAAAGTTAAGAGCTGCCGAAATGCACAGAGGTGA
AAATGACAAACCAAATGGAATTTCTCTTCAGAGTTCAGAATTTTCAGATACTAAGGAGGAAGAAAGGATCCACTACTTCTTGTTCTTATG
AATGACTCTAGAAAAATCAGAATCAAGTTGTGGGTGGAAAAATCAACGTGGCCTTTGAGTTCAGTTGTTATAAACCATTGTGACTATTGT
TGGTCAAAGTATTGGTACTTATATTGTTAGTAATTGCATCATAATTACATTACCAGTGTTGGAAAACTAATGAAGAAAACACTGTAATTG
CTACTCAGCAAATGTGAATAAAAGGTGTTTGCGTTATTAGGATGTCTGTTAAGTAATCATTTAATATTATTATATTGGTAATGGTTGTAT
GTGTGATGCTATGCCCAGAATATGAAGTATCTGTTTTTGAAATTCACTTTATTTAAAAGATAAGCAGCTGACTGGGCACGGTGCCTCATG
CCTGTAATCCTAGCACCTTGGGAGGCTGAGGCAGGTGGATCACCTAAGGTCAGGAGTTCAACAACACCAGCCTGACCAACATGGTGAAAC
CCCATCTCTACTAAAAATACAAAAATCAGCCGGGTCTCATGGCAGGCACCTGTAATCCCATCTACTGAGGCAGGAGAATTGCTTGACCCA

>In-frame_VPS13B_ENST00000357162_chr8_100050794_+_AHI1_ENST00000367800_chr6_135644462_-_2941nt
GGCGCGGTACAGGAGCAGCACTGCCGGCGGGGGCGGGTGCCAGGGACTTGGAGGTGGAGGGGACGCGGCGGTACTCTGGCGTCTTCCGAC
TTCGACTCCTTACCTTAAAAGATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCG
TCGGATCTACAGCTTTCACTATGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTA
CCATTCACTTTTTTAAGTGGACATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATC
AATACTATGGAATGCATTTTGAAACTTAAGGATGGGATACAGGTAGTGGCTCTTTATGACTACACAGCGAATCGATCAGATGAACTAACC
ATCCATCGCGGAGACATTATCCGAGTGTTTTTCAAAGATAATGAAGACTGGTGGTATGGCAGCATAGGAAAGGGACAGGAAGGTTATTTT
CCAGCTAATCATGTGGCTAGTGAAACACTGTATCAAGAACTGCCTCCTGAGATAAAGGAGCGATCCCCTCCTTTAAGCCCTGAGGAAAAA
ACTAAAATAGAAAAATCTCCAGCTCCTCAAAAGCAATCAATCAATAAGAACAAGTCCCAGGACTTCAGACTAGGCTCAGAATCTATGACA
CATTCTGAAATGAGAAAAGAACAGAGCCATGAGGACCAAGGACACATAATGGATACACGGATGAGGAAGAACAAGCAAGCAGGCAGAAAA
GTCACTCTAATAGAGTAAAGAATTGAAGAAAAGTTAAGAGCTGCCGAAATGCACAGAGGTGAAAATGACAAACCAAATGGAATTTCTCTT
CAGAGTTCAGAATTTTCAGATACTAAGGAGGAAGAAAGGATCCACTACTTCTTGTTCTTATGAATGACTCTAGAAAAATCAGAATCAAGT
TGTGGGTGGAAAAATCAACGTGGCCTTTGAGTTCAGTTGTTATAAACCATTGTGACTATTGTTGGTCAAAGTATTGGTACTTATATTGTT
AGTAATTGCATCATAATTACATTACCAGTGTTGGAAAACTAATGAAGAAAACACTGTAATTGCTACTCAGCAAATGTGAATAAAAGGTGT
TTGCGTTATTAGGATGTCTGTTAAGTAATCATTTAATATTATTATATTGGTAATGGTTGTATGTGTGATGCTATGCCCAGAATATGAAGT
ATCTGTTTTTGAAATTCACTTTATTTAAAAGATAAGCAGCTGACTGGGCACGGTGCCTCATGCCTGTAATCCTAGCACCTTGGGAGGCTG
AGGCAGGTGGATCACCTAAGGTCAGGAGTTCAACAACACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATCA
GCCGGGTCTCATGGCAGGCACCTGTAATCCCATCTACTGAGGCAGGAGAATTGCTTGACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGAT
CACGCCATTGCACTCCAGCCTGGGGGACAGAGCAAGACTCTATCTCCAAAAAACAAAAAAGATAAGCAGCTTTAGAATATGGCGCATTCA
AAACAGTCTCAGTAACAAAGACATTAAAAGAAAACAATTTACTTTCTAATTAAAATTTTGTGTTTCTTAAGATCAAATCATATAGGTAAC
TTCATAGACCTAAATTAAAAGTGATTTTTGGCTGGACTGGCAACAATGTTCCCAATGTCTTTACTTTTTAAAAAAGGCTTTTCATATTTA
AGCACATACCTATTTTGTAGACTTACATTGTTTAATATTTATTTTAATCTTAATATTTTTACATTATTATATTGCATTATTTATTTTTTC
TAAGTTCCAGAATAATAGTGTCATTATTATAGACTATATGTTTTGAAGTTTGATATTATAATGGGATATTCATTTTTTGTTCTTTTCTTG
ACTCCTTTCTCAAGTGTGTGATAAGGTCTGCTGATAAAATATTTAACCCCAAGAAAGTGAAAACTAATATAAAATTAGAAAGACCTATCC
AAATTAGACAGTCAATTCCATTAAAATAAGAAGTGAGAAAAACAATGTTGGGCATTGAGGTGTAAATTTTGCCCAGATGTATACCCAGTG
TGAAATATCTTCTAATAAAAATATATTTGGCTCTTATCCCTGCACATGTAGAGGCATAAAAATTGGTAAACATGTCCCGCTGTGTAGAAC
TTTAAAAAAAAGGCATTTTTGAAAGTGTTGAGTGGCACTGATAACTGGTGAAGCCTACAGCCATCCGCCCAAAAGTCTGTTCTGATGGCA
CTGAGTTTTCATTGTTCTGGATGTATAAGTCTGTGTGTCAGGTACAGCTGGGCCCAGCCAGCTTGAGTCACTCTTGTACAAGCTTGTTTT
TTTCTGTCTTGTGAATGCACTTGATAATTTAAAAATAAAAATATCTGTTTCTCTGCAGTTTCAGCTAATAATTTTGAGATATGTGTTGAT
TTTCTGATTGAATCACCAAGAATTTCAACAAGTTTAGAAATAATTTAAGATGAATGAAAAATATGTCAGGGGGAGCTAAGCATTTGCTAA
GCTCTTGATGTTTATATGAAAAATAAAGGGTTGTTTTTATATTGCAACTACTAAAGAGAAAAATAGCAGTTGAAGCAAACACCAGGAAAA
TTTGGCTCTACTGAAAGCCCAGTCCTTTTCCCCTTTGTCTCGCTGACAAAGTAAGACTAGGGTTATGTTCATGAATAGATTAATAAAAGA
TGTTTCTTTACCACACAATCTGAGATGAGATGGGGTGGGGGAGATCATGACAGTGCCCTCCAAGCAATAGATCCAGCTGATAATCAAGCA

>In-frame_VPS13B_ENST00000357162_chr8_100050794_+_AHI1_ENST00000457866_chr6_135644462_-_2487nt
GGCGCGGTACAGGAGCAGCACTGCCGGCGGGGGCGGGTGCCAGGGACTTGGAGGTGGAGGGGACGCGGCGGTACTCTGGCGTCTTCCGAC
TTCGACTCCTTACCTTAAAAGATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCG
TCGGATCTACAGCTTTCACTATGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTA
CCATTCACTTTTTTAAGTGGACATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATC
AATACTATGGAATGCATTTTGAAACTTAAGGATGGGATACAGGTAGTGGCTCTTTATGACTACACAGCGAATCGATCAGATGAACTAACC
ATCCATCGCGGAGACATTATCCGAGTGTTTTTCAAAGATAATGAAGACTGGTGGTATGGCAGCATAGGAAAGGGACAGGAAGGTTATTTT
CCAGCTAATCATGTGGCTAGTGAAACACTGTATCAAGAACTGCCTCCTGAGATAAAGGAGCGATCCCCTCCTTTAAGCCCTGAGGAAAAA
ACTAAAATAGAAAAATCTCCAGCTCCTCAAAAGCAATCAATCAATAAGAACAAGTCCCAGGACTTCAGACTAGGCTCAGAATCTATGACA
CATTCTGAAATGAGAAAAGAACAGAGCCATGAGGACCAAGGACACATAATGGATACACGGATGAGGAAGAACAAGCAAGCAGGCAGAAAA
GTCACTCTAATAGAGTAAAGAATTGAAGAAAAGTTAAGAGCTGCCGAAATGCACAGAGGTGAAAATGACAAACCAAATGGAATTTCTCTT
CAGAGTTCAGAATTTTCAGATACTAAGGAGGAAGAAAGGATCCACTACTTCTTGTTCTTATGAATGACTCTAGAAAAATCAGAATCAAGT
TGTGGGTGGAAAAATCAACGTGGCCTTTGAGTTCAGTTGTTATAAACCATTGTGACTATTGTTGGTCAAAGTATTGGTACTTATATTGTT
AGTAATTGCATCATAATTACATTACCAGTGTTGGAAAACTAATGAAGAAAACACTGTAATTGCTACTCAGCAAATGTGAATAAAAGGTGT
TTGCGTTATTAGGATGTCTGTTAAGTAATCATTTAATATTATTATATTGGTAATGGTTGTATGTGTGATGCTATGCCCAGAATATGAAGT
ATCTGTTTTTGAAATTCACTTTATTTAAAAGATAAGCAGCTGACTGGGCACGGTGCCTCATGCCTGTAATCCTAGCACCTTGGGAGGCTG
AGGCAGGTGGATCACCTAAGGTCAGGAGTTCAACAACACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATCA
GCCGGGTCTCATGGCAGGCACCTGTAATCCCATCTACTGAGGCAGGAGAATTGCTTGACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGAT
CACGCCATTGCACTCCAGCCTGGGGGACAGAGCAAGACTCTATCTCCAAAAAACAAAAAAGATAAGCAGCTTTAGAATATGGCGCATTCA
AAACAGTCTCAGTAACAAAGACATTAAAAGAAAACAATTTACTTTCTAATTAAAATTTTGTGTTTCTTAAGATCAAATCATATAGGTAAC
TTCATAGACCTAAATTAAAAGTGATTTTTGGCTGGACTGGCAACAATGTTCCCAATGTCTTTACTTTTTAAAAAAGGCTTTTCATATTTA
AGCACATACCTATTTTGTAGACTTACATTGTTTAATATTTATTTTAATCTTAATATTTTTACATTATTATATTGCATTATTTATTTTTTC
TAAGTTCCAGAATAATAGTGTCATTATTATAGACTATATGTTTTGAAGTTTGATATTATAATGGGATATTCATTTTTTGTTCTTTTCTTG
ACTCCTTTCTCAAGTGTGTGATAAGGTCTGCTGATAAAATATTTAACCCCAAGAAAGTGAAAACTAATATAAAATTAGAAAGACCTATCC
AAATTAGACAGTCAATTCCATTAAAATAAGAAGTGAGAAAAACAATGTTGGGCATTGAGGTGTAAATTTTGCCCAGATGTATACCCAGTG
TGAAATATCTTCTAATAAAAATATATTTGGCTCTTATCCCTGCACATGTAGAGGCATAAAAATTGGTAAACATGTCCCGCTGTGTAGAAC
TTTAAAAAAAAGGCATTTTTGAAAGTGTTGAGTGGCACTGATAACTGGTGAAGCCTACAGCCATCCGCCCAAAAGTCTGTTCTGATGGCA
CTGAGTTTTCATTGTTCTGGATGTATAAGTCTGTGTGTCAGGTACAGCTGGGCCCAGCCAGCTTGAGTCACTCTTGTACAAGCTTGTTTT

>In-frame_VPS13B_ENST00000357162_chr8_100050794_+_AHI1_ENST00000417892_chr6_135644462_-_1965nt
GGCGCGGTACAGGAGCAGCACTGCCGGCGGGGGCGGGTGCCAGGGACTTGGAGGTGGAGGGGACGCGGCGGTACTCTGGCGTCTTCCGAC
TTCGACTCCTTACCTTAAAAGATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCG
TCGGATCTACAGCTTTCACTATGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTA
CCATTCACTTTTTTAAGTGGACATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATC
AATACTATGGAATGCATTTTGAAACTTAAGGATGGGATACAGGTAGTGGCTCTTTATGACTACACAGCGAATCGATCAGATGAACTAACC
ATCCATCGCGGAGACATTATCCGAGTGTTTTTCAAAGATAATGAAGACTGGTGGTATGGCAGCATAGGAAAGGGACAGGAAGGTTATTTT
CCAGCTAATCATGTGGCTAGTGAAACACTGTATCAAGAACTGCCTCCTGAGATAAAGGAGCGATCCCCTCCTTTAAGCCCTGAGGAAAAA
ACTAAAATAGAAAAATCTCCAGCTCCTCAAAAGGTAAAATAAAACAAAACAGCTCACAGAGACACCTCCTTCTTCCCCCTGCTTCTGCCT
CCATGAGTAACTACCTATATGACGTGCTGCTGCTGAGACCAAGGAATGAATAGTGCCAAATCTTGCTGAAGAATGATCTTGCAGAAATCT
GATTGTGAAGAAGGAAATCTAAAAAGGCCAAACAAGCTTCAGTAGAGATAACACCAGGAAAGCAGTTACTCAAACAAGACTGAAAGAGAA
GCAATCAATCAATAAGAACAAGTCCCAGGACTTCAGACTAGGCTCAGAATCTATGACACATTCTGAAATGAGAAAAGAACAGAGCCATGA
GGACCAAGGACACATAATGGATACACGGATGAGGAAGAACAAGCAAGCAGGCAGAAAAGTCACTCTAATAGAGTGTGCCAGCTGTCACTT
TTCTCAGGAGTGGTCGATGGAGTTGACTGCTACCTTAACCAGATTTGCCATCGTTCTGAAACTGCCGTGTGTTTTCTAAGGACAACCAGG
TGTTAAGCCTTTCTCTTTAGAAGAAGGACAGTAACCTTTCTGTTAAAGAATTGAAGAAAAGTTAAGAGCTGCCGAAATGCACAGAGGTGA
AAATGACAAACCAAATGGAATTTCTCTTCAGAGTTCAGAATTTTCAGATACTAAGGAGGAAGAAAGGATCCACTACTTCTTGTTCTTATG
AATGACTCTAGAAAAATCAGAATCAAGTTGTGGGTGGAAAAATCAACGTGGCCTTTGAGTTCAGTTGTTATAAACCATTGTGACTATTGT
TGGTCAAAGTATTGGTACTTATATTGTTAGTAATTGCATCATAATTACATTACCAGTGTTGGAAAACTAATGAAGAAAACACTGTAATTG
CTACTCAGCAAATGTGAATAAAAGGTGTTTGCGTTATTAGGATGTCTGTTAAGTAATCATTTAATATTATTATATTGGTAATGGTTGTAT
GTGTGATGCTATGCCCAGAATATGAAGTATCTGTTTTTGAAATTCACTTTATTTAAAAGATAAGCAGCTGACTGGGCACGGTGCCTCATG
CCTGTAATCCTAGCACCTTGGGAGGCTGAGGCAGGTGGATCACCTAAGGTCAGGAGTTCAACAACACCAGCCTGACCAACATGGTGAAAC
CCCATCTCTACTAAAAATACAAAAATCAGCCGGGTCTCATGGCAGGCACCTGTAATCCCATCTACTGAGGCAGGAGAATTGCTTGACCCA

>In-frame_VPS13B_ENST00000355155_chr8_100050794_+_AHI1_ENST00000367800_chr6_135644462_-_2941nt
GGCGCGGTACAGGAGCAGCACTGCCGGCGGGGGCGGGTGCCAGGGACTTGGAGGTGGAGGGGACGCGGCGGTACTCTGGCGTCTTCCGAC
TTCGACTCCTTACCTTAAAAGATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCG
TCGGATCTACAGCTTTCACTATGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTA
CCATTCACTTTTTTAAGTGGACATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATC
AATACTATGGAATGCATTTTGAAACTTAAGGATGGGATACAGGTAGTGGCTCTTTATGACTACACAGCGAATCGATCAGATGAACTAACC
ATCCATCGCGGAGACATTATCCGAGTGTTTTTCAAAGATAATGAAGACTGGTGGTATGGCAGCATAGGAAAGGGACAGGAAGGTTATTTT
CCAGCTAATCATGTGGCTAGTGAAACACTGTATCAAGAACTGCCTCCTGAGATAAAGGAGCGATCCCCTCCTTTAAGCCCTGAGGAAAAA
ACTAAAATAGAAAAATCTCCAGCTCCTCAAAAGCAATCAATCAATAAGAACAAGTCCCAGGACTTCAGACTAGGCTCAGAATCTATGACA
CATTCTGAAATGAGAAAAGAACAGAGCCATGAGGACCAAGGACACATAATGGATACACGGATGAGGAAGAACAAGCAAGCAGGCAGAAAA
GTCACTCTAATAGAGTAAAGAATTGAAGAAAAGTTAAGAGCTGCCGAAATGCACAGAGGTGAAAATGACAAACCAAATGGAATTTCTCTT
CAGAGTTCAGAATTTTCAGATACTAAGGAGGAAGAAAGGATCCACTACTTCTTGTTCTTATGAATGACTCTAGAAAAATCAGAATCAAGT
TGTGGGTGGAAAAATCAACGTGGCCTTTGAGTTCAGTTGTTATAAACCATTGTGACTATTGTTGGTCAAAGTATTGGTACTTATATTGTT
AGTAATTGCATCATAATTACATTACCAGTGTTGGAAAACTAATGAAGAAAACACTGTAATTGCTACTCAGCAAATGTGAATAAAAGGTGT
TTGCGTTATTAGGATGTCTGTTAAGTAATCATTTAATATTATTATATTGGTAATGGTTGTATGTGTGATGCTATGCCCAGAATATGAAGT
ATCTGTTTTTGAAATTCACTTTATTTAAAAGATAAGCAGCTGACTGGGCACGGTGCCTCATGCCTGTAATCCTAGCACCTTGGGAGGCTG
AGGCAGGTGGATCACCTAAGGTCAGGAGTTCAACAACACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATCA
GCCGGGTCTCATGGCAGGCACCTGTAATCCCATCTACTGAGGCAGGAGAATTGCTTGACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGAT
CACGCCATTGCACTCCAGCCTGGGGGACAGAGCAAGACTCTATCTCCAAAAAACAAAAAAGATAAGCAGCTTTAGAATATGGCGCATTCA
AAACAGTCTCAGTAACAAAGACATTAAAAGAAAACAATTTACTTTCTAATTAAAATTTTGTGTTTCTTAAGATCAAATCATATAGGTAAC
TTCATAGACCTAAATTAAAAGTGATTTTTGGCTGGACTGGCAACAATGTTCCCAATGTCTTTACTTTTTAAAAAAGGCTTTTCATATTTA
AGCACATACCTATTTTGTAGACTTACATTGTTTAATATTTATTTTAATCTTAATATTTTTACATTATTATATTGCATTATTTATTTTTTC
TAAGTTCCAGAATAATAGTGTCATTATTATAGACTATATGTTTTGAAGTTTGATATTATAATGGGATATTCATTTTTTGTTCTTTTCTTG
ACTCCTTTCTCAAGTGTGTGATAAGGTCTGCTGATAAAATATTTAACCCCAAGAAAGTGAAAACTAATATAAAATTAGAAAGACCTATCC
AAATTAGACAGTCAATTCCATTAAAATAAGAAGTGAGAAAAACAATGTTGGGCATTGAGGTGTAAATTTTGCCCAGATGTATACCCAGTG
TGAAATATCTTCTAATAAAAATATATTTGGCTCTTATCCCTGCACATGTAGAGGCATAAAAATTGGTAAACATGTCCCGCTGTGTAGAAC
TTTAAAAAAAAGGCATTTTTGAAAGTGTTGAGTGGCACTGATAACTGGTGAAGCCTACAGCCATCCGCCCAAAAGTCTGTTCTGATGGCA
CTGAGTTTTCATTGTTCTGGATGTATAAGTCTGTGTGTCAGGTACAGCTGGGCCCAGCCAGCTTGAGTCACTCTTGTACAAGCTTGTTTT
TTTCTGTCTTGTGAATGCACTTGATAATTTAAAAATAAAAATATCTGTTTCTCTGCAGTTTCAGCTAATAATTTTGAGATATGTGTTGAT
TTTCTGATTGAATCACCAAGAATTTCAACAAGTTTAGAAATAATTTAAGATGAATGAAAAATATGTCAGGGGGAGCTAAGCATTTGCTAA
GCTCTTGATGTTTATATGAAAAATAAAGGGTTGTTTTTATATTGCAACTACTAAAGAGAAAAATAGCAGTTGAAGCAAACACCAGGAAAA
TTTGGCTCTACTGAAAGCCCAGTCCTTTTCCCCTTTGTCTCGCTGACAAAGTAAGACTAGGGTTATGTTCATGAATAGATTAATAAAAGA
TGTTTCTTTACCACACAATCTGAGATGAGATGGGGTGGGGGAGATCATGACAGTGCCCTCCAAGCAATAGATCCAGCTGATAATCAAGCA

>In-frame_VPS13B_ENST00000355155_chr8_100050794_+_AHI1_ENST00000457866_chr6_135644462_-_2487nt
GGCGCGGTACAGGAGCAGCACTGCCGGCGGGGGCGGGTGCCAGGGACTTGGAGGTGGAGGGGACGCGGCGGTACTCTGGCGTCTTCCGAC
TTCGACTCCTTACCTTAAAAGATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCG
TCGGATCTACAGCTTTCACTATGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTA
CCATTCACTTTTTTAAGTGGACATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATC
AATACTATGGAATGCATTTTGAAACTTAAGGATGGGATACAGGTAGTGGCTCTTTATGACTACACAGCGAATCGATCAGATGAACTAACC
ATCCATCGCGGAGACATTATCCGAGTGTTTTTCAAAGATAATGAAGACTGGTGGTATGGCAGCATAGGAAAGGGACAGGAAGGTTATTTT
CCAGCTAATCATGTGGCTAGTGAAACACTGTATCAAGAACTGCCTCCTGAGATAAAGGAGCGATCCCCTCCTTTAAGCCCTGAGGAAAAA
ACTAAAATAGAAAAATCTCCAGCTCCTCAAAAGCAATCAATCAATAAGAACAAGTCCCAGGACTTCAGACTAGGCTCAGAATCTATGACA
CATTCTGAAATGAGAAAAGAACAGAGCCATGAGGACCAAGGACACATAATGGATACACGGATGAGGAAGAACAAGCAAGCAGGCAGAAAA
GTCACTCTAATAGAGTAAAGAATTGAAGAAAAGTTAAGAGCTGCCGAAATGCACAGAGGTGAAAATGACAAACCAAATGGAATTTCTCTT
CAGAGTTCAGAATTTTCAGATACTAAGGAGGAAGAAAGGATCCACTACTTCTTGTTCTTATGAATGACTCTAGAAAAATCAGAATCAAGT
TGTGGGTGGAAAAATCAACGTGGCCTTTGAGTTCAGTTGTTATAAACCATTGTGACTATTGTTGGTCAAAGTATTGGTACTTATATTGTT
AGTAATTGCATCATAATTACATTACCAGTGTTGGAAAACTAATGAAGAAAACACTGTAATTGCTACTCAGCAAATGTGAATAAAAGGTGT
TTGCGTTATTAGGATGTCTGTTAAGTAATCATTTAATATTATTATATTGGTAATGGTTGTATGTGTGATGCTATGCCCAGAATATGAAGT
ATCTGTTTTTGAAATTCACTTTATTTAAAAGATAAGCAGCTGACTGGGCACGGTGCCTCATGCCTGTAATCCTAGCACCTTGGGAGGCTG
AGGCAGGTGGATCACCTAAGGTCAGGAGTTCAACAACACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATCA
GCCGGGTCTCATGGCAGGCACCTGTAATCCCATCTACTGAGGCAGGAGAATTGCTTGACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGAT
CACGCCATTGCACTCCAGCCTGGGGGACAGAGCAAGACTCTATCTCCAAAAAACAAAAAAGATAAGCAGCTTTAGAATATGGCGCATTCA
AAACAGTCTCAGTAACAAAGACATTAAAAGAAAACAATTTACTTTCTAATTAAAATTTTGTGTTTCTTAAGATCAAATCATATAGGTAAC
TTCATAGACCTAAATTAAAAGTGATTTTTGGCTGGACTGGCAACAATGTTCCCAATGTCTTTACTTTTTAAAAAAGGCTTTTCATATTTA
AGCACATACCTATTTTGTAGACTTACATTGTTTAATATTTATTTTAATCTTAATATTTTTACATTATTATATTGCATTATTTATTTTTTC
TAAGTTCCAGAATAATAGTGTCATTATTATAGACTATATGTTTTGAAGTTTGATATTATAATGGGATATTCATTTTTTGTTCTTTTCTTG
ACTCCTTTCTCAAGTGTGTGATAAGGTCTGCTGATAAAATATTTAACCCCAAGAAAGTGAAAACTAATATAAAATTAGAAAGACCTATCC
AAATTAGACAGTCAATTCCATTAAAATAAGAAGTGAGAAAAACAATGTTGGGCATTGAGGTGTAAATTTTGCCCAGATGTATACCCAGTG
TGAAATATCTTCTAATAAAAATATATTTGGCTCTTATCCCTGCACATGTAGAGGCATAAAAATTGGTAAACATGTCCCGCTGTGTAGAAC
TTTAAAAAAAAGGCATTTTTGAAAGTGTTGAGTGGCACTGATAACTGGTGAAGCCTACAGCCATCCGCCCAAAAGTCTGTTCTGATGGCA
CTGAGTTTTCATTGTTCTGGATGTATAAGTCTGTGTGTCAGGTACAGCTGGGCCCAGCCAGCTTGAGTCACTCTTGTACAAGCTTGTTTT

>In-frame_VPS13B_ENST00000355155_chr8_100050794_+_AHI1_ENST00000417892_chr6_135644462_-_1965nt
GGCGCGGTACAGGAGCAGCACTGCCGGCGGGGGCGGGTGCCAGGGACTTGGAGGTGGAGGGGACGCGGCGGTACTCTGGCGTCTTCCGAC
TTCGACTCCTTACCTTAAAAGATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCG
TCGGATCTACAGCTTTCACTATGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTA
CCATTCACTTTTTTAAGTGGACATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATC
AATACTATGGAATGCATTTTGAAACTTAAGGATGGGATACAGGTAGTGGCTCTTTATGACTACACAGCGAATCGATCAGATGAACTAACC
ATCCATCGCGGAGACATTATCCGAGTGTTTTTCAAAGATAATGAAGACTGGTGGTATGGCAGCATAGGAAAGGGACAGGAAGGTTATTTT
CCAGCTAATCATGTGGCTAGTGAAACACTGTATCAAGAACTGCCTCCTGAGATAAAGGAGCGATCCCCTCCTTTAAGCCCTGAGGAAAAA
ACTAAAATAGAAAAATCTCCAGCTCCTCAAAAGGTAAAATAAAACAAAACAGCTCACAGAGACACCTCCTTCTTCCCCCTGCTTCTGCCT
CCATGAGTAACTACCTATATGACGTGCTGCTGCTGAGACCAAGGAATGAATAGTGCCAAATCTTGCTGAAGAATGATCTTGCAGAAATCT
GATTGTGAAGAAGGAAATCTAAAAAGGCCAAACAAGCTTCAGTAGAGATAACACCAGGAAAGCAGTTACTCAAACAAGACTGAAAGAGAA
GCAATCAATCAATAAGAACAAGTCCCAGGACTTCAGACTAGGCTCAGAATCTATGACACATTCTGAAATGAGAAAAGAACAGAGCCATGA
GGACCAAGGACACATAATGGATACACGGATGAGGAAGAACAAGCAAGCAGGCAGAAAAGTCACTCTAATAGAGTGTGCCAGCTGTCACTT
TTCTCAGGAGTGGTCGATGGAGTTGACTGCTACCTTAACCAGATTTGCCATCGTTCTGAAACTGCCGTGTGTTTTCTAAGGACAACCAGG
TGTTAAGCCTTTCTCTTTAGAAGAAGGACAGTAACCTTTCTGTTAAAGAATTGAAGAAAAGTTAAGAGCTGCCGAAATGCACAGAGGTGA
AAATGACAAACCAAATGGAATTTCTCTTCAGAGTTCAGAATTTTCAGATACTAAGGAGGAAGAAAGGATCCACTACTTCTTGTTCTTATG
AATGACTCTAGAAAAATCAGAATCAAGTTGTGGGTGGAAAAATCAACGTGGCCTTTGAGTTCAGTTGTTATAAACCATTGTGACTATTGT
TGGTCAAAGTATTGGTACTTATATTGTTAGTAATTGCATCATAATTACATTACCAGTGTTGGAAAACTAATGAAGAAAACACTGTAATTG
CTACTCAGCAAATGTGAATAAAAGGTGTTTGCGTTATTAGGATGTCTGTTAAGTAATCATTTAATATTATTATATTGGTAATGGTTGTAT
GTGTGATGCTATGCCCAGAATATGAAGTATCTGTTTTTGAAATTCACTTTATTTAAAAGATAAGCAGCTGACTGGGCACGGTGCCTCATG
CCTGTAATCCTAGCACCTTGGGAGGCTGAGGCAGGTGGATCACCTAAGGTCAGGAGTTCAACAACACCAGCCTGACCAACATGGTGAAAC
CCCATCTCTACTAAAAATACAAAAATCAGCCGGGTCTCATGGCAGGCACCTGTAATCCCATCTACTGAGGCAGGAGAATTGCTTGACCCA

>In-frame_VPS13B_ENST00000441350_chr8_100050794_+_AHI1_ENST00000367800_chr6_135644462_-_2933nt
ACAGGAGCAGCACTGCCGGCGGGGGCGGGTGCCAGGGACTTGGAGGTGGAGGGGACGCGGCGGTACTCTGGCGTCTTCCGACTTCGACTC
CTTACCTTAAAAGATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCGTCGGATCT
ACAGCTTTCACTATGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTACCATTCAC
TTTTTTAAGTGGACATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATCAATACTAT
GGAATGCATTTTGAAACTTAAGGATGGGATACAGGTAGTGGCTCTTTATGACTACACAGCGAATCGATCAGATGAACTAACCATCCATCG
CGGAGACATTATCCGAGTGTTTTTCAAAGATAATGAAGACTGGTGGTATGGCAGCATAGGAAAGGGACAGGAAGGTTATTTTCCAGCTAA
TCATGTGGCTAGTGAAACACTGTATCAAGAACTGCCTCCTGAGATAAAGGAGCGATCCCCTCCTTTAAGCCCTGAGGAAAAAACTAAAAT
AGAAAAATCTCCAGCTCCTCAAAAGCAATCAATCAATAAGAACAAGTCCCAGGACTTCAGACTAGGCTCAGAATCTATGACACATTCTGA
AATGAGAAAAGAACAGAGCCATGAGGACCAAGGACACATAATGGATACACGGATGAGGAAGAACAAGCAAGCAGGCAGAAAAGTCACTCT
AATAGAGTAAAGAATTGAAGAAAAGTTAAGAGCTGCCGAAATGCACAGAGGTGAAAATGACAAACCAAATGGAATTTCTCTTCAGAGTTC
AGAATTTTCAGATACTAAGGAGGAAGAAAGGATCCACTACTTCTTGTTCTTATGAATGACTCTAGAAAAATCAGAATCAAGTTGTGGGTG
GAAAAATCAACGTGGCCTTTGAGTTCAGTTGTTATAAACCATTGTGACTATTGTTGGTCAAAGTATTGGTACTTATATTGTTAGTAATTG
CATCATAATTACATTACCAGTGTTGGAAAACTAATGAAGAAAACACTGTAATTGCTACTCAGCAAATGTGAATAAAAGGTGTTTGCGTTA
TTAGGATGTCTGTTAAGTAATCATTTAATATTATTATATTGGTAATGGTTGTATGTGTGATGCTATGCCCAGAATATGAAGTATCTGTTT
TTGAAATTCACTTTATTTAAAAGATAAGCAGCTGACTGGGCACGGTGCCTCATGCCTGTAATCCTAGCACCTTGGGAGGCTGAGGCAGGT
GGATCACCTAAGGTCAGGAGTTCAACAACACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATCAGCCGGGTC
TCATGGCAGGCACCTGTAATCCCATCTACTGAGGCAGGAGAATTGCTTGACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCAT
TGCACTCCAGCCTGGGGGACAGAGCAAGACTCTATCTCCAAAAAACAAAAAAGATAAGCAGCTTTAGAATATGGCGCATTCAAAACAGTC
TCAGTAACAAAGACATTAAAAGAAAACAATTTACTTTCTAATTAAAATTTTGTGTTTCTTAAGATCAAATCATATAGGTAACTTCATAGA
CCTAAATTAAAAGTGATTTTTGGCTGGACTGGCAACAATGTTCCCAATGTCTTTACTTTTTAAAAAAGGCTTTTCATATTTAAGCACATA
CCTATTTTGTAGACTTACATTGTTTAATATTTATTTTAATCTTAATATTTTTACATTATTATATTGCATTATTTATTTTTTCTAAGTTCC
AGAATAATAGTGTCATTATTATAGACTATATGTTTTGAAGTTTGATATTATAATGGGATATTCATTTTTTGTTCTTTTCTTGACTCCTTT
CTCAAGTGTGTGATAAGGTCTGCTGATAAAATATTTAACCCCAAGAAAGTGAAAACTAATATAAAATTAGAAAGACCTATCCAAATTAGA
CAGTCAATTCCATTAAAATAAGAAGTGAGAAAAACAATGTTGGGCATTGAGGTGTAAATTTTGCCCAGATGTATACCCAGTGTGAAATAT
CTTCTAATAAAAATATATTTGGCTCTTATCCCTGCACATGTAGAGGCATAAAAATTGGTAAACATGTCCCGCTGTGTAGAACTTTAAAAA
AAAGGCATTTTTGAAAGTGTTGAGTGGCACTGATAACTGGTGAAGCCTACAGCCATCCGCCCAAAAGTCTGTTCTGATGGCACTGAGTTT
TCATTGTTCTGGATGTATAAGTCTGTGTGTCAGGTACAGCTGGGCCCAGCCAGCTTGAGTCACTCTTGTACAAGCTTGTTTTTTTCTGTC
TTGTGAATGCACTTGATAATTTAAAAATAAAAATATCTGTTTCTCTGCAGTTTCAGCTAATAATTTTGAGATATGTGTTGATTTTCTGAT
TGAATCACCAAGAATTTCAACAAGTTTAGAAATAATTTAAGATGAATGAAAAATATGTCAGGGGGAGCTAAGCATTTGCTAAGCTCTTGA
TGTTTATATGAAAAATAAAGGGTTGTTTTTATATTGCAACTACTAAAGAGAAAAATAGCAGTTGAAGCAAACACCAGGAAAATTTGGCTC
TACTGAAAGCCCAGTCCTTTTCCCCTTTGTCTCGCTGACAAAGTAAGACTAGGGTTATGTTCATGAATAGATTAATAAAAGATGTTTCTT
TACCACACAATCTGAGATGAGATGGGGTGGGGGAGATCATGACAGTGCCCTCCAAGCAATAGATCCAGCTGATAATCAAGCAGAAAATCA

>In-frame_VPS13B_ENST00000441350_chr8_100050794_+_AHI1_ENST00000457866_chr6_135644462_-_2479nt
ACAGGAGCAGCACTGCCGGCGGGGGCGGGTGCCAGGGACTTGGAGGTGGAGGGGACGCGGCGGTACTCTGGCGTCTTCCGACTTCGACTC
CTTACCTTAAAAGATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCGTCGGATCT
ACAGCTTTCACTATGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTACCATTCAC
TTTTTTAAGTGGACATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATCAATACTAT
GGAATGCATTTTGAAACTTAAGGATGGGATACAGGTAGTGGCTCTTTATGACTACACAGCGAATCGATCAGATGAACTAACCATCCATCG
CGGAGACATTATCCGAGTGTTTTTCAAAGATAATGAAGACTGGTGGTATGGCAGCATAGGAAAGGGACAGGAAGGTTATTTTCCAGCTAA
TCATGTGGCTAGTGAAACACTGTATCAAGAACTGCCTCCTGAGATAAAGGAGCGATCCCCTCCTTTAAGCCCTGAGGAAAAAACTAAAAT
AGAAAAATCTCCAGCTCCTCAAAAGCAATCAATCAATAAGAACAAGTCCCAGGACTTCAGACTAGGCTCAGAATCTATGACACATTCTGA
AATGAGAAAAGAACAGAGCCATGAGGACCAAGGACACATAATGGATACACGGATGAGGAAGAACAAGCAAGCAGGCAGAAAAGTCACTCT
AATAGAGTAAAGAATTGAAGAAAAGTTAAGAGCTGCCGAAATGCACAGAGGTGAAAATGACAAACCAAATGGAATTTCTCTTCAGAGTTC
AGAATTTTCAGATACTAAGGAGGAAGAAAGGATCCACTACTTCTTGTTCTTATGAATGACTCTAGAAAAATCAGAATCAAGTTGTGGGTG
GAAAAATCAACGTGGCCTTTGAGTTCAGTTGTTATAAACCATTGTGACTATTGTTGGTCAAAGTATTGGTACTTATATTGTTAGTAATTG
CATCATAATTACATTACCAGTGTTGGAAAACTAATGAAGAAAACACTGTAATTGCTACTCAGCAAATGTGAATAAAAGGTGTTTGCGTTA
TTAGGATGTCTGTTAAGTAATCATTTAATATTATTATATTGGTAATGGTTGTATGTGTGATGCTATGCCCAGAATATGAAGTATCTGTTT
TTGAAATTCACTTTATTTAAAAGATAAGCAGCTGACTGGGCACGGTGCCTCATGCCTGTAATCCTAGCACCTTGGGAGGCTGAGGCAGGT
GGATCACCTAAGGTCAGGAGTTCAACAACACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATCAGCCGGGTC
TCATGGCAGGCACCTGTAATCCCATCTACTGAGGCAGGAGAATTGCTTGACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCAT
TGCACTCCAGCCTGGGGGACAGAGCAAGACTCTATCTCCAAAAAACAAAAAAGATAAGCAGCTTTAGAATATGGCGCATTCAAAACAGTC
TCAGTAACAAAGACATTAAAAGAAAACAATTTACTTTCTAATTAAAATTTTGTGTTTCTTAAGATCAAATCATATAGGTAACTTCATAGA
CCTAAATTAAAAGTGATTTTTGGCTGGACTGGCAACAATGTTCCCAATGTCTTTACTTTTTAAAAAAGGCTTTTCATATTTAAGCACATA
CCTATTTTGTAGACTTACATTGTTTAATATTTATTTTAATCTTAATATTTTTACATTATTATATTGCATTATTTATTTTTTCTAAGTTCC
AGAATAATAGTGTCATTATTATAGACTATATGTTTTGAAGTTTGATATTATAATGGGATATTCATTTTTTGTTCTTTTCTTGACTCCTTT
CTCAAGTGTGTGATAAGGTCTGCTGATAAAATATTTAACCCCAAGAAAGTGAAAACTAATATAAAATTAGAAAGACCTATCCAAATTAGA
CAGTCAATTCCATTAAAATAAGAAGTGAGAAAAACAATGTTGGGCATTGAGGTGTAAATTTTGCCCAGATGTATACCCAGTGTGAAATAT
CTTCTAATAAAAATATATTTGGCTCTTATCCCTGCACATGTAGAGGCATAAAAATTGGTAAACATGTCCCGCTGTGTAGAACTTTAAAAA
AAAGGCATTTTTGAAAGTGTTGAGTGGCACTGATAACTGGTGAAGCCTACAGCCATCCGCCCAAAAGTCTGTTCTGATGGCACTGAGTTT
TCATTGTTCTGGATGTATAAGTCTGTGTGTCAGGTACAGCTGGGCCCAGCCAGCTTGAGTCACTCTTGTACAAGCTTGTTTTTTTCTGTC

>In-frame_VPS13B_ENST00000441350_chr8_100050794_+_AHI1_ENST00000417892_chr6_135644462_-_1957nt
ACAGGAGCAGCACTGCCGGCGGGGGCGGGTGCCAGGGACTTGGAGGTGGAGGGGACGCGGCGGTACTCTGGCGTCTTCCGACTTCGACTC
CTTACCTTAAAAGATGCTGGAGTCATATGTAACTCCAATTTTAATGAGCTATGTGAATCGCTACATCAAGAACTTAAAGCCGTCGGATCT
ACAGCTTTCACTATGGGGTGGAGACGTGGTACTCAGCAAGCTCGAGTTAAAGTTGGATGTGCTGGAACAGGAACTGAAATTACCATTCAC
TTTTTTAAGTGGACATATTCATGAATTGAGGATTCATGTACCATGGACAAAACTGGGTTCAGAACCAGTGGTAATTACCATCAATACTAT
GGAATGCATTTTGAAACTTAAGGATGGGATACAGGTAGTGGCTCTTTATGACTACACAGCGAATCGATCAGATGAACTAACCATCCATCG
CGGAGACATTATCCGAGTGTTTTTCAAAGATAATGAAGACTGGTGGTATGGCAGCATAGGAAAGGGACAGGAAGGTTATTTTCCAGCTAA
TCATGTGGCTAGTGAAACACTGTATCAAGAACTGCCTCCTGAGATAAAGGAGCGATCCCCTCCTTTAAGCCCTGAGGAAAAAACTAAAAT
AGAAAAATCTCCAGCTCCTCAAAAGGTAAAATAAAACAAAACAGCTCACAGAGACACCTCCTTCTTCCCCCTGCTTCTGCCTCCATGAGT
AACTACCTATATGACGTGCTGCTGCTGAGACCAAGGAATGAATAGTGCCAAATCTTGCTGAAGAATGATCTTGCAGAAATCTGATTGTGA
AGAAGGAAATCTAAAAAGGCCAAACAAGCTTCAGTAGAGATAACACCAGGAAAGCAGTTACTCAAACAAGACTGAAAGAGAAGCAATCAA
TCAATAAGAACAAGTCCCAGGACTTCAGACTAGGCTCAGAATCTATGACACATTCTGAAATGAGAAAAGAACAGAGCCATGAGGACCAAG
GACACATAATGGATACACGGATGAGGAAGAACAAGCAAGCAGGCAGAAAAGTCACTCTAATAGAGTGTGCCAGCTGTCACTTTTCTCAGG
AGTGGTCGATGGAGTTGACTGCTACCTTAACCAGATTTGCCATCGTTCTGAAACTGCCGTGTGTTTTCTAAGGACAACCAGGTGTTAAGC
CTTTCTCTTTAGAAGAAGGACAGTAACCTTTCTGTTAAAGAATTGAAGAAAAGTTAAGAGCTGCCGAAATGCACAGAGGTGAAAATGACA
AACCAAATGGAATTTCTCTTCAGAGTTCAGAATTTTCAGATACTAAGGAGGAAGAAAGGATCCACTACTTCTTGTTCTTATGAATGACTC
TAGAAAAATCAGAATCAAGTTGTGGGTGGAAAAATCAACGTGGCCTTTGAGTTCAGTTGTTATAAACCATTGTGACTATTGTTGGTCAAA
GTATTGGTACTTATATTGTTAGTAATTGCATCATAATTACATTACCAGTGTTGGAAAACTAATGAAGAAAACACTGTAATTGCTACTCAG
CAAATGTGAATAAAAGGTGTTTGCGTTATTAGGATGTCTGTTAAGTAATCATTTAATATTATTATATTGGTAATGGTTGTATGTGTGATG
CTATGCCCAGAATATGAAGTATCTGTTTTTGAAATTCACTTTATTTAAAAGATAAGCAGCTGACTGGGCACGGTGCCTCATGCCTGTAAT
CCTAGCACCTTGGGAGGCTGAGGCAGGTGGATCACCTAAGGTCAGGAGTTCAACAACACCAGCCTGACCAACATGGTGAAACCCCATCTC
TACTAAAAATACAAAAATCAGCCGGGTCTCATGGCAGGCACCTGTAATCCCATCTACTGAGGCAGGAGAATTGCTTGACCCAGGAGGCAG


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FusionGenePPI for VPS13B_AHI1


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
VPS13BCSNK1E, SPACA1, FAM177A1, DNAJC7, CSNK1D, SNX20, SNX21, LGALS7, DOCK5, LYPD4, FUZAHI1ELAVL1, KHDRBS1, DNM2, OFD1, PCM1, DSP, DVL1, ECD, HAUS8, IQCB1, MAPK9, MB21D2, NMT1, PPP2CA, PPP2R1A, PPP2R2A, SIRT2, SSX2IP, UNC45A, CEP131, CAD, CCDC138, LRRC49, MED4, PPP2R2B, SRP72, WRAP73, CC2D2A, DOCK5, PTPRQ, PIBF1, SLC9A3R2, PAFAH1B1, NINL, DCTN1, DCTN2


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with
TgeneAHI1chr8:100050794chr6:135644462ENST00000327035-023141_434-931054HAP1


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
TgeneAHI1chr8:100050794chr6:135644462ENST00000367800-2127141_43410551197HAP1
TgeneAHI1chr8:100050794chr6:135644462ENST00000457866-2228141_43410551197HAP1


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for VPS13B_AHI1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for VPS13B_AHI1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneVPS13BC0265223Cohen syndrome6CTD_human;ORPHANET;UNIPROT
TgeneAHI1C1837713JOUBERT SYNDROME 35CTD_human;UNIPROT
TgeneAHI1C0004352Autistic Disorder1CTD_human
TgeneAHI1C0005586Bipolar Disorder1PSYGENET
TgeneAHI1C0007760Cerebellar Diseases1CTD_human
TgeneAHI1C0035304Retinal Degeneration1CTD_human
TgeneAHI1C0036341Schizophrenia1CTD_human
TgeneAHI1C0162538Immunoglobulin A deficiency (disorder)1CTD_human
TgeneAHI1C3714756Intellectual Disability1CTD_human;HPO