Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

No_hapid

No_samplehapid

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ULK1_chr12_131889622_131928150	131917075	G G	GTGGGGCT others(234): Show GTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGGGGAGCTCGGAGGCTGT GGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGG GCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAG GCTGTGGGATGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGA TGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0134 a0002c0004t0004g0134	1	344	0.0029	241	c.218 others(256): Show c.2182+34_2182+35insCGGGGGTCGGGGGGAGCTCGGAGGCTGTGG GATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGC TCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGC TGTGGGATGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATG GGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGG AGGCTGTGGGA	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917084	G G	GGAGGCTG others(234): Show GGAGGCTGTGGGACGGGGGTCGGGGGGAGCTCGGAGGCTGTGGGATGGGG CTCGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGC TGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGGGGAGCTCGGA GGCTGTGGGATGGGGGTTGGAGGCTGTGGGATGGGGGTCGGGGGGAGCTC GGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0017 a0002c0004t0004g0017	1	344	0.0029	241	c.218 others(256): Show c.2182+34_2182+35insCGGGGGTCGGGGGGAGCTCGGAGGCTGTGG GATGGGGCTCGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGT CGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGGGGA GCTCGGAGGCTGTGGGATGGGGGTTGGAGGCTGTGGGATGGGGGTCGGGG GGAGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCG AGGCTGTGGGA	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917187	C C	CGGAGGCT others(234): Show CGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCT GTGGGACGGGGCTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATG GGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGG AGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTG GGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0003 a0001c0023t0003	a0001c0023t0003g0238 a0001c0023t0003g0238	1	344	0.0029	241	c.218 others(258): Show c.2182+127_2182+128insAGGCTGTGGGACGGGGGTCGGAGGCTGT GGGACGGGGGTCGGAGGCTGTGGGACGGGGCTCGGAGGCTGTGGGACGGG GGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAG GCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGG ATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGT CGGAGGCTGTGGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
UNG_chr12_109092597_109115992	109106892	C C	CATATATA others(234): Show CATATATATATACGTATATATATATACACATATATATATACGTATATATA TATATATGTGTATATATATATATACGTATATATATATGTGTATATATATA TACGTATATATATGTGTATATATATATGTTTTTTTTTGAGATAGATATAT GTATATATATATATACGTATATATATATGTGTATATATATATACGTATAT ATGTATATATATGTGTATATATATATGTATATATATGTGTAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 NA18522.hp1 HG02896.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0081 a0001c0006t0001g0077 a0001c0001t0001g0081 a0001c0006t0001g0077	2	452	0.0044	241	c.802 others(258): Show c.802-2913_802-2912insACACATATATATATACGTATATATATAT ATATGTGTATATATATATATACGTATATATATATGTGTATATATATATAC GTATATATATGTGTATATATATATGTTTTTTTTTGAGATAGATATATGTA TATATATATATACGTATATATATATGTGTATATATATATACGTATATATG TATATATATGTGTATATATATATGTATATATATGTGTATATATATATATA CGTATATATATAT	UNG	ENSG00000076248.12	transcript	ENST00000242576.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
UNG_chr12_109092597_109115992	109106892	C C	CATATATA others(234): Show CATATATATATACGTATATATATATACACATATATATATACGTATATATA TATATGTGTATATATATATATACGTATATATATATGTGTATATATATATA CGTATATATATGTGTATATATATATGTTTTTTTTTGAGATAGATATATGT ATATATATATATACGTATATATATATGTGTATATATATATACGTATATAT ATGTATATATATGTGTATATATATATGTATATATATGTGTAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02145.hp1 HG02451.hp1 others(7): Show HG00099.hp1 HG02145.hp1 HG02451.hp1 HG03669.hp2 HG03834.hp2 HG04184.hp1 HG04184.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0129 others(4): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0129 a0001c0001t0001g0138 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0010g0021	10	452	0.0221	241	c.802 others(258): Show c.802-2913_802-2912insACACATATATATATACGTATATATATAT ATGTGTATATATATATATACGTATATATATATGTGTATATATATATACGT ATATATATGTGTATATATATATGTTTTTTTTTGAGATAGATATATGTATA TATATATATACGTATATATATATGTGTATATATATATACGTATATATATG TATATATATGTGTATATATATATGTATATATATGTGTATATATATATATA CGTATATATATAT	UNG	ENSG00000076248.12	transcript	ENST00000242576.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
UNG_chr12_109092597_109115992	109106892	C C	CATATATA others(234): Show CATATATATATACGTATATATATATACATATATATATATACGTATATATA TATATGTGTATATATATATATATACGTATATATATATGTGTATATATATA TACGTATATATATGTGTATATATATATGTTTTTTTTTGAGATAGATATAT GTATATATATATACGTATATATATATGTGTATATATATATACGTATATAT ATGTATATATATGTGTATATATATATGTATATATATGTGTAT	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19084.hp1 NA19062.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0143 a0001c0001t0001g0128 a0001c0001t0001g0143	2	452	0.0044	241	c.802 others(258): Show c.802-2913_802-2912insACATATATATATATACGTATATATATAT ATGTGTATATATATATATATACGTATATATATATGTGTATATATATATAC GTATATATATGTGTATATATATATGTTTTTTTTTGAGATAGATATATGTA TATATATATACGTATATATATATGTGTATATATATATACGTATATATATG TATATATATGTGTATATATATATGTATATATATGTGTATATATATATATA CGTATATATATAT	UNG	ENSG00000076248.12	transcript	ENST00000242576.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
VEGFB_chr11_64229584_64244264	64237126	G G	GAGAGGGG others(234): Show GAGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGACAGACAGAGACAGACAGAGACAGACAGAGACAGACA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	328	0.0031	241	c.375 others(254): Show c.375-61_375-60insAGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGACAGACAGAGACAGACAGAGACAGACAG AGACAGACA	VEGFB	ENSG00000173511.10	transcript	ENST00000309422.7	protein_coding	4/6			chr11	TogoVar
VGLL4_chr3_11551069_11648915	11604262	A A	ATGAATTC others(234): Show ATGAATTCCATCTTCCAAAGCGCCCCCACGCCCACCCCCCACCCCCAATC CTCCACAGCTCTGTGAATTCCATCTTCCAAAGCGCCCCCACGCCCACCCC CCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTTCCAAAGCGCCCC CACGCCCACCCCCCACCCCCAATCCTCCACAGCTCTGTGAATTCCATCTT CCAAAGCGCCCCCACGCCCACCCCCCACCCCCAATCCTACAC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0273 a0001c0001t0004g0273	1	388	0.0026	241	c.83- others(256): Show c.83-2241_83-2240insGTGTAGGATTGGGGGTGGGGGGTGGGCGTG GGGGCGCTTTGGAAGATGGAATTCACAGAGCTGTGGAGGATTGGGGGTGG GGGGTGGGCGTGGGGGCGCTTTGGAAGATGGAATTCACAGAGCTGTGGAG GATTGGGGGTGGGGGGTGGGCGTGGGGGCGCTTTGGAAGATGGAATTCAC AGAGCTGTGGAGGATTGGGGGTGGGGGGTGGGCGTGGGGGCGCTTTGGAA GATGGAATTCA	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	1/4			chr3	TogoVar
VRK2_chr2_58041806_58164871	58137180	A A	ATCATATA others(234): Show ATCATATATATATCATATATCATATATATCATATATATATCATATATCAT ATATATCATATATGATACATATATATATGATACATGTATCATATATGATA CATATATATCATATATATGATACATATATATCATATATATGATACATATA TATCATATATATGATACATATATATCATATATATGATACATATATATCTC ATATATGATACATATATATCTCATATATGATACATATATATC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0133 a0001c0004t0001g0133	1	340	0.0029	241	c.856 others(258): Show c.856+1989_856+1990insATATCATATATCATATATATCATATATA TATCATATATCATATATATCATATATGATACATATATATATGATACATGT ATCATATATGATACATATATATCATATATATGATACATATATATCATATA TATGATACATATATATCATATATATGATACATATATATCATATATATGAT ACATATATATCTCATATATGATACATATATATCTCATATATGATACATAT ATATCTCATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
VRK2_chr2_58041806_58164871	58137180	A A	ATCATATA others(234): Show ATCATATATGATACATATATCATATATATCATATATGATACATATATCAT ATATATGATACATGTATCATATATGATACATATATATCATATATATGATA CATATATATCATATATATGATACATATATATCATATATATGATACATATA TATCATATATATGATACATATATATCTCATATATGATACATATATATCTC ATATATGATACATATATATCTCATATATGATACATATATATC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0249 a0001c0001t0003g0249	1	340	0.0029	241	c.856 others(258): Show c.856+2000_856+2001insCATATATATCATATATGATACATATATC ATATATATGATACATGTATCATATATGATACATATATATCATATATATGA TACATATATATCATATATATGATACATATATATCATATATATGATACATA TATATCATATATATGATACATATATATCTCATATATGATACATATATATC TCATATATGATACATATATATCTCATATATGATACATATATATCTCATAT ATGATACATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
VRK2_chr2_58041806_58164871	58137182	C C	CATATATG others(234): Show CATATATGATACATATATCATATATATCATATATGATACATATATCATAT ATATGATACATGTATCATATATGATACATATATATCATATATATGATACA TATGTATCATATATATGATACATATGTATCATATATATGATACATATGTA TCATATATATGATACATATGTATCATATATATGATACATATGTATCATAT ATATGATACATATGTATCATATATATGATACATATGTATCAT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0080 a0002c0002t0002g0080	1	340	0.0029	241	c.856 others(258): Show c.856+2000_856+2001insCATATATATCATATATGATACATATATC ATATATATGATACATGTATCATATATGATACATATATATCATATATATGA TACATATGTATCATATATATGATACATATGTATCATATATATGATACATA TGTATCATATATATGATACATATGTATCATATATATGATACATATGTATC ATATATATGATACATATGTATCATATATATGATACATATGTATCATATAT ATGATACATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
VSTM2L_chr20_37898127_37950350	37914404	G G	GTGTGGGG others(234): Show GTGTGGGGGGAGTGTGTGTATATATATATATGTGTGTGTATGTAAGTATA TGTGTATGTGTGTTTATGTGTATGTGGGTGTATCTGTGTATGTGTGTATA TATGTGTGTAGGGGTGTAGGTGTGTGTACGTGTGTGGGGGGGAGTATTTG GGTGTGTATGTGTGTGTATGTGGTGTGTATATGTGGGGGGAGTGGGTGTG TGTGCGTATGTGTGCGTATGTGTATGTACGTGTGTGCATGTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp1 HG02486.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0237 a0001c0001t0010g0236 a0001c0001t0001g0237 a0001c0001t0010g0236	2	344	0.0058	241	c.121 others(260): Show c.121+10939_121+10940insGGGAGTGTGTGTATATATATATATGT GTGTGTATGTAAGTATATGTGTATGTGTGTTTATGTGTATGTGGGTGTAT CTGTGTATGTGTGTATATATGTGTGTAGGGGTGTAGGTGTGTGTACGTGT GTGGGGGGGAGTATTTGGGTGTGTATGTGTGTGTATGTGGTGTGTATATG TGGGGGGAGTGGGTGTGTGTGCGTATGTGTGCGTATGTGTATGTACGTGT GTGCATGTCTGTGGG	VSTM2L	ENSG00000132821.12	transcript	ENST00000373461.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
WDPCP_chr2_63114559_63593477	63575479	G G	GTGTATGC others(234): Show GTGTATGCACTGTATATACAGTATATACAGTGTATACACTGTATATACAG TATATACAGTGTATGCACTGTATATACAGTATATACAGTGTATGCACTGT ATATACAGTATATACAGTGTATGCACTGTATATACAGTATATACAGTGTA TGCACTGTATATACAGTATATACAGTGTATGCACTGTATATACAGTATAT ACAGTGTATGCACTGTATATACAGTATATACAGTGTATGCAC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	216	0.0046	241	c.75+ others(258): Show c.75+12717_75+12718insGTGCATACACTGTATATACTGTATATAC AGTGCATACACTGTATATACTGTATATACAGTGCATACACTGTATATACT GTATATACAGTGCATACACTGTATATACTGTATATACAGTGCATACACTG TATATACTGTATATACAGTGCATACACTGTATATACTGTATATACAGTGC ATACACTGTATATACTGTATATACAGTGTATACACTGTATATACTGTATA TACAGTGCATACA	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	1/17			chr2	TogoVar
WDPCP_chr2_63114559_63593477	63575479	G G	GTGTATGC others(234): Show GTGTATGCACTGTATATACAGTATATACAGTGTATGCACTGTATATACAG TATATACAGTGTATGCACTGTATATACAGTATATACAGTGTATGCACTGT ATATACAGTATATACAGTGTATGCACTGTATATACAGTATATACAGTGTA TGCACTGTATATACAGTATATACAGTGTATGCACTGTATATACAGTATAT ACAGTGTATGCACTGTATATACAGTATATACAGTGTATGCAC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0010 a0001c0001t0022g0010	1	216	0.0046	241	c.75+ others(258): Show c.75+12717_75+12718insGTGCATACACTGTATATACTGTATATAC AGTGCATACACTGTATATACTGTATATACAGTGCATACACTGTATATACT GTATATACAGTGCATACACTGTATATACTGTATATACAGTGCATACACTG TATATACTGTATATACAGTGCATACACTGTATATACTGTATATACAGTGC ATACACTGTATATACTGTATATACAGTGCATACACTGTATATACTGTATA TACAGTGCATACA	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	1/17			chr2	TogoVar
WDR87_chr19_37879823_37911594	37881047	A A	ATATATAA others(234): Show ATATATAATATATATATATAATATATATATATATAATATATATATATAAT ATATATATATATAATATATATATATAATATATATATATATAATATATATA TATATTATATATATATATAATATATATATTATATATATATTATATATATA TAATATATATTATATATATATAATATATATATAATATATATATATTATAT ATATATAATATATATATTATATATATATAATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0002 a0016c0019t0002	a0016c0019t0002g0025 a0016c0019t0002g0025	1	330	0.0030	241	c.38 others(252): Show c.3884_*3885insAATATATATATATTATATATATATAATATATATA TTATATATATATAATATATATATATTATATATATATTATATATATATAAT ATATATTATATATATATAATATATATATAATATATATATTATATATATAT ATAATATATATATATATTATATATATATATATTATATATATATATTATAT ATATATATATTATATATATATATTATATATATATATATTATATATATATA TTATATA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3775		chr19	TogoVar
XYLT1_chr16_17096769_17475960	17470921	C C	CCGCCGCC others(234): Show CCGCCGCCTCGGCTCGCCGCTGCTCCTCCGCCGCCGCCGCCGCCGCCGCC GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCTCCACCGCCGCGGCGCGGAG TTTTCAGACGGGCAGGGACCCGGACGTCACCAGGAGGAGGAGAAGGCGGG AGGCGGGAGCGGGGAGGCCGCGGAGGGGGGCGCCGGGCGCGCGCTCGGGG ACGGGGCGCGCAGGGAGGGGCGGGCGCCTGGCCCGCGCGGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0088 a0001c0007t0088	a0001c0007t0088g0140 a0001c0007t0088g0140	1	156	0.0064	241	c.-12 others(250): Show c.-126_-125insCGCCGCGCGGGCCAGGCGCCCGCCCCTCCCTGCGCG CCCCGTCCCCGAGCGCGCGCCCGGCGCCCCCCTCCGCGGCCTCCCCGCTC CCGCCTCCCGCCTTCTCCTCCTCCTGGTGACGTCCGGGTCCCTGCCCGTC TGAAAACTCCGCGCCGCGGCGGTGGAGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGGCGGCGGCGGCGGCGGCGGCGGAGGAGCAGCGGCGAGCCGAGG CGGCG	XYLT1	ENSG00000103489.12	transcript	ENST00000261381.7	protein_coding	1/12	126		chr16	TogoVar
XYLT1_chr16_17096769_17475960	17470921	C C	CCGCCGCC others(234): Show CCGCCGCCTCGGCTCGCCGCTGCTCCTCCTCCGCCGCCGCCGCCGCCGCC GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCTCCACCGCCGCGGCGCGGAG TTTTCAGACGGGCAGGGACCCGGACGTCACCAGGAGGAGGAGAAGGCGGG AGGCGGGAGCGGGGAGGCCGCGGAGGGGGGCGCCGGGCGCGCGCTCGGGG ACGGGGCGCGCAGGGAGGGGCGGGCGCCTGGCCCGCGCGGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00140.hp1 HG01071.hp1 HG01109.hp1 others(8): Show HG00140.hp1 HG01071.hp1 HG01109.hp1 HG02004.hp1 HG02109.hp2 HG02280.hp2 HG03098.hp2 HG03209.hp2 NA18522.hp2 NA19030.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0002c0005 a0002c0011 a0002c0024	a0001c0001t0021 a0001c0003t0008 a0001c0004t0082 others(5): Show a0001c0001t0021 a0001c0003t0008 a0001c0004t0082 a0001c0008t0085 a0002c0005t0084 a0002c0005t0087 a0002c0011t0083 a0002c0024t0086	a0001c0001t0021g0132 a0001c0001t0021g0136 a0001c0003t0008g0129 others(8): Show a0001c0001t0021g0132 a0001c0001t0021g0136 a0001c0003t0008g0129 a0001c0003t0008g0130 a0001c0003t0008g0131 a0001c0004t0082g0139 a0001c0008t0085g0134 a0002c0005t0084g0135 a0002c0005t0087g0133 a0002c0011t0083g0138 a0002c0024t0086g0137	11	156	0.0705	241	c.-12 others(250): Show c.-126_-125insCGCCGCGCGGGCCAGGCGCCCGCCCCTCCCTGCGCG CCCCGTCCCCGAGCGCGCGCCCGGCGCCCCCCTCCGCGGCCTCCCCGCTC CCGCCTCCCGCCTTCTCCTCCTCCTGGTGACGTCCGGGTCCCTGCCCGTC TGAAAACTCCGCGCCGCGGCGGTGGAGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGGCGGCGGCGGCGGCGGCGGAGGAGGAGCAGCGGCGAGCCGAGG CGGCG	XYLT1	ENSG00000103489.12	transcript	ENST00000261381.7	protein_coding	1/12	126		chr16	TogoVar
XYLT1_chr16_17096769_17475960	17470921	C C	CCGCCGCC others(234): Show CCGCCGCCTCGGCTCGCCGCTGCTCCTCCTCCGCCGCCGCCGCCGCCGCC GCCGCCGCTGCCGCCGCCGCCGCCGCCGCCTCCACCGCCGCGGCGCGGAG TTTTCAGACGGGCAGGGACCCGGACGTCACCAGGAGGAGGAGAAGGCGGG AGGCGGGAGCGGGGAGGCCGCGGAGGGGGGCGCCGGGCGCGCGCTCGGGG ACGGGGCGCGCAGGGAGGGGCGGGCGCCTGGCCCGCGCGGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00639.hp1 HG01099.hp2 HG01109.hp2 others(17): Show HG00639.hp1 HG01099.hp2 HG01109.hp2 HG01258.hp1 HG02040.hp2 HG02083.hp1 HG02523.hp2 HG02559.hp2 HG02698.hp1 HG02698.hp2 HG03130.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG04228.hp1 NA18941.hp1 NA19081.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0008	a0001c0001 a0001c0003 a0001c0008 others(6): Show a0001c0001 a0001c0003 a0001c0008 a0001c0015 a0002c0005 a0002c0011 a0004c0018 a0006c0012 a0008c0026	a0001c0001t0003 a0001c0001t0005 a0001c0001t0037 others(10): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0037 a0001c0003t0034 a0001c0003t0039 a0001c0008t0038 a0001c0015t0005 a0002c0005t0033 a0002c0011t0040 a0004c0018t0035 a0006c0012t0003 a0006c0012t0036 a0008c0026t0003	a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0035 others(17): Show a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0035 a0001c0001t0005g0025 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0033 a0001c0001t0037g0032 a0001c0003t0034g0024 a0001c0003t0039g0034 a0001c0008t0038g0023 a0001c0015t0005g0022 a0002c0005t0033g0021 a0002c0011t0040g0031 a0004c0018t0035g0036 a0006c0012t0003g0038 a0006c0012t0003g0039 a0006c0012t0003g0040 a0006c0012t0036g0037 a0008c0026t0003g0026	20	156	0.1282	241	c.-12 others(250): Show c.-126_-125insCGCCGCGCGGGCCAGGCGCCCGCCCCTCCCTGCGCG CCCCGTCCCCGAGCGCGCGCCCGGCGCCCCCCTCCGCGGCCTCCCCGCTC CCGCCTCCCGCCTTCTCCTCCTCCTGGTGACGTCCGGGTCCCTGCCCGTC TGAAAACTCCGCGCCGCGGCGGTGGAGGCGGCGGCGGCGGCGGCGGCAGC GGCGGCGGCGGCGGCGGCGGCGGCGGAGGAGGAGCAGCGGCGAGCCGAGG CGGCG	XYLT1	ENSG00000103489.12	transcript	ENST00000261381.7	protein_coding	1/12	126		chr16	TogoVar
XYLT1_chr16_17096769_17475960	17470921	C C	CCGCCGCC others(234): Show CCGCCGCCTCGGCTCGCCGCTGCTCCTCCTCCGCCGCCGCCGCCGCCGCT GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCTCCACCGCCGCGGCGCGGAG TTTTCAGACGGGCAGGGACCCGGACGTCACCAGGAGGAGGAGAAGGCGGG AGGCGGGAGCGGGGAGGCCGCGGAGGGGGGCGCCGGGCGCGCGCTCGGGG ACGGGGCGCGCAGGGAGGGGCGGGCGCCTGGCCCGCGCGGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02257.hp2 HG02647.hp2 HG03453.hp1 others(2): Show HG02257.hp2 HG02647.hp2 HG03453.hp1 NA19043.hp2 NA20300.hp2	a0002 a0003 a0015 a0002 a0003 a0015	a0002c0035 a0003c0010 a0003c0034 others(1): Show a0002c0035 a0003c0010 a0003c0034 a0015c0045	a0002c0035t0067 a0003c0010t0065 a0003c0010t0066 others(2): Show a0002c0035t0067 a0003c0010t0065 a0003c0010t0066 a0003c0034t0063 a0015c0045t0064	a0002c0035t0067g0109 a0003c0010t0065g0106 a0003c0010t0066g0107 others(2): Show a0002c0035t0067g0109 a0003c0010t0065g0106 a0003c0010t0066g0107 a0003c0034t0063g0108 a0015c0045t0064g0110	5	156	0.0321	241	c.-12 others(250): Show c.-126_-125insCGCCGCGCGGGCCAGGCGCCCGCCCCTCCCTGCGCG CCCCGTCCCCGAGCGCGCGCCCGGCGCCCCCCTCCGCGGCCTCCCCGCTC CCGCCTCCCGCCTTCTCCTCCTCCTGGTGACGTCCGGGTCCCTGCCCGTC TGAAAACTCCGCGCCGCGGCGGTGGAGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCAGCGGCGGCGGCGGCGGCGGAGGAGGAGCAGCGGCGAGCCGAGG CGGCG	XYLT1	ENSG00000103489.12	transcript	ENST00000261381.7	protein_coding	1/12	126		chr16	TogoVar
ABCB11_chr2_168915781_169036324	168975324	T T	TATAAATA others(235): Show TATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATATA AATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAA TATATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATT TTTATATTTATAGATAAATATATAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG04115.hp2 HG03491.hp2 HG04115.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0012 a0002c0004t0003 a0002c0004t0012	a0002c0004t0003g0141 a0002c0004t0012g0142 a0002c0004t0003g0141 a0002c0004t0012g0142	2	306	0.0065	242	c.130 others(261): Show c.1308+1252_1308+1253insCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATATATTT ATATATTTATCTATAAATATAAAAATATTTATATATTTATATATTTATCT ATAAATATAAAAATATTTATATATTTATATATTTATCTATAAATATAAAA ATATTTATATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975362	T T	TATAAATA others(235): Show TATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATATA AATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAA TATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATT TATAGATAAATATATAAATATATAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01081.hp1 HG01099.hp1 others(26): Show HG01070.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01884.hp1 HG01952.hp2 HG01978.hp2 HG02004.hp2 HG02145.hp2 HG02615.hp1 HG02698.hp2 HG02738.hp2 HG02809.hp2 HG03239.hp1 HG03831.hp1 NA18952.hp1 NA18970.hp2 NA18987.hp2	a0002 a0010 a0002 a0010	a0002c0003 a0002c0004 a0002c0012 others(3): Show a0002c0003 a0002c0004 a0002c0012 a0002c0019 a0002c0069 a0010c0035	a0002c0003t0001 a0002c0004t0003 a0002c0004t0004 others(7): Show a0002c0003t0001 a0002c0004t0003 a0002c0004t0004 a0002c0004t0005 a0002c0004t0023 a0002c0004t0024 a0002c0012t0004 a0002c0019t0006 a0002c0069t0031 a0010c0035t0001	a0002c0003t0001g0014 a0002c0003t0001g0035 a0002c0003t0001g0041 others(26): Show a0002c0003t0001g0014 a0002c0003t0001g0035 a0002c0003t0001g0041 a0002c0003t0001g0043 a0002c0003t0001g0047 a0002c0003t0001g0053 a0002c0003t0001g0054 a0002c0003t0001g0057 a0002c0003t0001g0062 a0002c0003t0001g0213 a0002c0003t0001g0238 a0002c0003t0001g0268 a0002c0003t0001g0271 a0002c0004t0003g0028 a0002c0004t0003g0046 a0002c0004t0003g0056 a0002c0004t0003g0201 a0002c0004t0003g0202 a0002c0004t0004g0038 a0002c0004t0005g0037 a0002c0004t0005g0055 a0002c0004t0005g0070 a0002c0004t0005g0079 a0002c0004t0023g0045 a0002c0004t0024g0030 a0002c0012t0004g0009 a0002c0019t0006g0183 a0002c0069t0031g0063 a0010c0035t0001g0060	29	306	0.0948	242	c.130 others(261): Show c.1308+1214_1308+1215insCTATAAATATAAAAATATTTATATAT TTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAAT ATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATATTT ATATATTTATCTATAAATATAAAAATATTTATATATTTATATATTTATCT ATAAATATAAAAATATTTATATATTTATATATTTATCTATAAATATAAAA ATATTTATATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975403	A A	AAATATTT others(235): Show AAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAA ATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTAT AAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTT ATAAATATATAAATATTTTTATATTTATAAATATATCAATATTTTTATAT TTATAAATATATAAATATTTTTATATTTATAGATAAATATATC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0008 a0001c0039t0008	a0001c0039t0008g0301 a0001c0039t0008g0301	1	306	0.0033	242	c.130 others(261): Show c.1308+1173_1308+1174insGATATATTTATCTATAAATATAAAAA TATTTATATATTTATAAATATAAAAATATTGATATATTTATAAATATAAA AATATTTATATATTTATAAATATAAAAATATTTATATATTTATAAATATA AAAATATTTATATATTTATAAATATAAAAATATTTATATATTTATAAATA TAAAAATATTTATATATTTATAAATATAAAAATATTTATATATTTATCTA TAAATATAAAAATATT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABHD12B_chr14_50867053_50909970	50870961	A A	AAGAGAAA others(235): Show AAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAAGAGAAA GAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGA GAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0300	1	376	0.0027	242	c.-12 others(253): Show c.-1214_-1213insAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAG AGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGAA AGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1091		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAGAGAGA others(235): Show GAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAA GAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGA GAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0298 a0003c0003t0001g0298	1	376	0.0027	242	c.-11 others(253): Show c.-1192_-1191insAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGGAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAG AAAGAAAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAA AGAAAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ACAP3_chr1_1287391_1312930	1288636	T T	TGCTCCGT others(235): Show TGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTG TCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCC GTCCCCCGTGTCTCTGCTCCATCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0107 a0001c0003t0002g0107	1	295	0.0034	242	c.49 others(253): Show c.4927_*4928insGGACACGGGACGGAGCAGAGACACGGGACGGAGC AGAGACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGG GACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGATGGAGCAGAGAC ACGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGACG GAGCAGAGACACGGGACGGGGCAGAGACACGGGACGGAGCAGGGACACGG GACGGAGC	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3754		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288681	T T	TCCCCCGT others(235): Show TCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	295	0.0034	242	c.48 others(253): Show c.4882_*4883insGGACGGGGCAGAGACACGGGGGACGGGGCAGAGA CACGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGGGAC GGGGCAGAGACACGGGGGACGGGGCAGAGACACGGGGGACGGGGCAGAGA CACGGGGGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGGGAC GGGGCAGAGACACGGGGGACGGGGCAGAGACACGGGGGACGGAGCAGAGA CACGGGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3709		chr1	TogoVar
ACTRT3_chr3_169761921_169774561	169771263	C C	CATAAATA others(235): Show CATAAATATAAAAATTTATGTTTATATATCATAAATATAAAAATTTATGT TTATATATCATAAATATAAAAATTTATGTTTATATATAATAAATATATAA AAATTTATGTTTATATATAATAAATATATAAAAATTTATGTTTATATATA ATAAATATATAAAAATTTATGTTTATATATAATAAATATATAAAAATTTA TGTTTATATATAATAAATATATAAAAATTTATGTTTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	418	0.0024	242	c.-17 others(253): Show c.-1744_-1743insTATATATAAACATAAATTTTTATATATTTATTAT ATATAAACATAAATTTTTATATATTTATTATATATAAACATAAATTTTTA TATATTTATTATATATAAACATAAATTTTTATATATTTATTATATATAAA CATAAATTTTTATATATTTATTATATATAAACATAAATTTTTATATTTAT GATATATAAACATAAATTTTTATATTTATGATATATAAACATAAATTTTT ATATTTAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1703		chr3	TogoVar
ADAMTS19_chr5_129455298_129743683	129549914	G G	GTATCTAG others(235): Show GTATCTAGATATACATATACATGTATATGTATATCTAGATATACAGATAC ATGTATATGTATATCTAGATATACATATACATGTATCTGTATATGTATGT ATCTAGATATACATATACATGTATCTGTATATGTATGTATCTAGATATAC ATATACATGTATCTGTATATGTATGTATCTAGATATACATATACATGTAT CTGTATATGTATGTATCTAGATATACATATACATGTATCTGTA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0113 a0001c0001t0007g0113	1	226	0.0044	242	c.132 others(261): Show c.1329-1947_1329-1946insCTAGATATACATATACATGTATATGT ATATCTAGATATACAGATACATGTATATGTATATCTAGATATACATATAC ATGTATCTGTATATGTATGTATCTAGATATACATATACATGTATCTGTAT ATGTATGTATCTAGATATACATATACATGTATCTGTATATGTATGTATCT AGATATACATATACATGTATCTGTATATGTATGTATCTAGATATACATAT ACATGTATCTGTATAT	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADGRL4_chr1_78884764_79011730	79001176	G G	GAGGGGGG others(235): Show GAGGGGGGGAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGGAGAGA GGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGGAGAGAGG GGGGGGAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGGAGAGAGGG GGGGAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGGAGAGAGGGAG GGAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGGAGAGA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0363 a0002c0005t0001g0363	1	390	0.0026	242	c.172 others(259): Show c.172+3893_172+3894insTCTCTCCCTTCCTCCCTCCCTTCCTTCC TTCCTCCCTCCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTTCCTTCCTT CCTCCCTCCCTCCCCCCCTCTCTCCCTTCCTCCCTCCCTTCCTTCCTTCC TCCCTCCCTCCCCCCCCTCTCTCCCTTCCTCCCTCCCTTCCTTCCTCCCT CCCTCCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTTCCTTCCTTCCTCC CTCCCTCCCCCCCT	ADGRL4	ENSG00000162618.15	transcript	ENST00000370742.4	protein_coding	2/14			chr1	TogoVar
AFF2_chrX_148495617_149005663	148581082	T T	TACACATA others(235): Show TACACATATGTGTATATGTATATATACACATATATACACATATGTGTATA TGTATATGTACACATATATACACATATGTGTATATGTATATGTACACATA TATACACATATGTGTATATATGTATATGTACACATATATACACATATGTG TATATGTATATGTACACATATATACACATATGTGTATATGTATATGTACA CATATATACACATATGTGTATATGTATATGTACACACATATAC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0083 a0001c0001t0033g0083	1	169	0.0059	242	c.48- others(259): Show c.48-70914_48-70913insCATATGTGTATATGTATATATACACATA TATACACATATGTGTATATGTATATGTACACATATATACACATATGTGTA TATGTATATGTACACATATATACACATATGTGTATATATGTATATGTACA CATATATACACATATGTGTATATGTATATGTACACATATATACACATATG TGTATATGTATATGTACACATATATACACATATGTGTATATGTATATGTA CACACATATACACA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AGL_chr1_99845361_99929020	99890378	T T	TTTTTTTT others(235): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGGGTGCAGTGGCGCGACCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCCGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGGCGGGGTTTCACCGCGTTAGCCAGGATGG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0048 a0002c0003t0006g0048	1	318	0.0031	242	c.281 others(259): Show c.2813-841_2813-840insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGGGTG CAGTGGCGCGACCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCCGGGACTACAGGCGCCCGCCAC CACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCGCG TTAGCCAGGATGGT	AGL	ENSG00000162688.17	transcript	ENST00000361915.8	protein_coding	21/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGRN_chr1_1015120_1061116	1049124	G G	GGGGGGCC others(235): Show GGGGGGCCGGGGCAGCTCAGGTGGGTGGGGTGGGGACGGGGGCGGGGCAG CTCAGGTGGGCGGGGAGGGGACGGGGCCGGGGCAGCTCAGGTGGGCGGGG AGGGGACGGGGGGGGGGGGAGGGGGGGGCCGGGGCAGCTCAGGTGGGCGG GGAGGGGACGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGGGG GGGGAGGGGGGGCCGGGGCAGCTCAGGTGGGTGGGGTGGGGAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0176 a0002c0005t0004g0176	1	210	0.0048	242	c.429 others(257): Show c.4298+69_4298+70insGCCGGGGCAGCTCAGGTGGGTGGGGTGGGG ACGGGGGCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGGCCGGGGCAG CTCAGGTGGGCGGGGAGGGGACGGGGGGGGGGGGAGGGGGGGGCCGGGGC AGCTCAGGTGGGCGGGGAGGGGACGGGGCCGGGGCAGCTCAGGTGGGCGG GGAGGGGACGGGGGGGGGGAGGGGGGGCCGGGGCAGCTCAGGTGGGTGGG GTGGGGACGGGG	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	24/35		INFO_REALIGN_3_PRIME	chr1	TogoVar
ALKBH1_chr14_77667404_77713023	77711224	A A	AATATATA others(235): Show AATATATATTTATATATAAATATATATATATATATAAATATATAAATATA AATATATTTATAAATATAAATATTTAAAAATATAAATATAAATATATAAA TATAAATAAATATATAATATATATATATATAAATATAATATATTTATATA TATATATATATATAAATATATATATATATATATAAATATATATAAATATA TATATATATATAAATATATATATATATATAAATATATAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	360	0.0028	242	c.-32 others(253): Show c.-3221_-3220insATATTTATATATTTATATATATATATATATTTAT ATATATATATATATTTATATATATTTATATATATATATATATATTTATAT ATATATATATATATAAATATATTATATTTATATATATATATATTATATAT TTATTTATATTTATATATTTATATTTATATTTTTAAATATTTATATTTAT AAATATATTTATATTTATATATTTATATATATATATATATTTATATATAA ATATATAT	ALKBH1	ENSG00000100601.10	transcript	ENST00000216489.8	protein_coding		3202		chr14	TogoVar
ANKS1B_chr12_98738974_99989936	99139343	T T	TTCCCTCC others(235): Show TTCCCTCCCTCCTTCTCTCTCTTTTTCTCCCTTCCCTCCCTCCCTCCCTC CCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTCCTCCCTTCCC TTTCCCTTCCCTTTCCCTTCCTTCTTTCTTTCCTCCTTTCTTTCCTTTCC TTCCTTTCTTTCTTCCTTCCTTCCCTTCCCTTCTTCCTTTCTTCCTTCCT TCCTTTCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0021 a0001c0001t0007g0021	1	48	0.0208	242	c.252 others(263): Show c.2526+14945_2526+14946insGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGAAGGAAGAAAGGAAGGAAGGAAGAAAGGAAGAAGGGAAGGGAAG GAAGGAAGAAAGAAAGGAAGGAAAGGAAAGAAAGGAGGAAAGAAAGAAGG AAGGGAAAGGGAAGGGAAAGGGAAGGGAGGAGGGAGGGAGGAAGGAAGGA AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGGAGAAAAAGA GAGAGAAGGAGGGAGGGA	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	15/26			chr12	TogoVar
ANO10_chr3_43360848_43627011	43550707	T T	TAAGAAAT others(235): Show TAAGAAATCTAAGACTTCCCGGCTAAAACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGC TACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02723.hp2 others(6): Show HG01167.hp1 HG01169.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02970.hp1 HG02976.hp1 HG03579.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0010 others(6): Show a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018	9	224	0.0402	242	c.166 others(259): Show c.1669-860_1669-859insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGAA GTCTTAGATTTCTT	ANO10	ENSG00000160746.13	transcript	ENST00000292246.8	protein_coding	10/12			chr3	TogoVar
API5_chr11_43306996_43349529	43335390	C C	CAAAACTT others(235): Show CAAAACTTAATACGAGGGGTCGGGGGGAGGGGGGAGGGATAGCATTGGGA GATATACCTAATGCTAGATGACACATTAGTGGGTGCAGTGCACCAGCATG GCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTA AAACTTAGAATATAATAAAAAAAAAAAAAAGAAAGGAAAAAAAAAAATAA ATAAATAAATAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	384	0.0026	242	c.135 others(257): Show c.1355+51_1355+52insGGGTCGGGGGGAGGGGGGAGGGATAGCATT GGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGTGCACCAG CATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTAC CCTAAAACTTAGAATATAATAAAAAAAAAAAAAAGAAAGGAAAAAAAAAA ATAAATAAATAAATAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ACTTAATACGAG	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASCC1_chr10_72091032_72221276	72198296	A A	AGGAGGGA others(235): Show AGGAGGGAGGGGAGGGGAGGGGGAAGGAGATGGGGGAGGGCAGACGGGAG GGGGGACGGGGAGGGAAGGGGGAGGGAAGAGGAGGGGAGGGGGATGGGAG GGGAGGGGGAGGGGAGGGGGAGGAGAGGGGGATGGGAGGGGGACGGGGAG GGGACGGGGAGGGGAGGGGGAGGGGAGGGGAGATGGGAGGGGAGGGGAGG GTGAGGGGGAGGGGAGGGGGAGGGGAGGAGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	216	0.0046	242	c.311 others(259): Show c.311-1308_311-1307insCCTCCCCTCCCCTCTCCTCCCCTCCCCC TCCCCTCCCCCTCACCCTCCCCTCCCCTCCCATCTCCCCTCCCCTCCCCC TCCCCTCCCCGTCCCCTCCCCGTCCCCCTCCCATCCCCCTCTCCTCCCCC TCCCCTCCCCCTCCCCTCCCATCCCCCTCCCCTCCTCTTCCCTCCCCCTT CCCTCCCCGTCCCCCCTCCCGTCTGCCCTCCCCCATCTCCTTCCCCCTCC CCTCCCCTCCCTCC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ATG2B_chr14_96274195_96368341	96340148	A A	AATATATA others(235): Show AATATATATATCATATATGATATATATGAATATATATATCATATATGATA TATATGAATATATATATCATATATGATATATATGAATATATATATCATAT ATGATATATATGAATATATATATCATATATGATATATATGAATATATATA TCATATATGATATATATGAATATATATATCATATATGATATATATATTCA TATATATCATATATGATATATATGAATATATATATCATATATG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0026 a0026	a0026c0038 a0026c0038	a0026c0038t0006 a0026c0038t0006	a0026c0038t0006g0174 a0026c0038t0006g0174	1	356	0.0028	242	c.924 others(259): Show c.924+1373_924+1374insCATATATGATATATATATTCATATATAT CATATATGATATATATGAATATATATATCATATATGATATATATATTCAT ATATATCATATATGATATATATATTCATATATATCATATATGATATATAT ATTCATATATATCATATATGATATATATATTCATATATATCATATATGAT ATATATATTCATATATATCATATATGATATATATATTCATATATATCATA TATGATATATATAT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41			chr14	TogoVar
ATG2B_chr14_96274195_96368341	96340148	A A	AATATATA others(235): Show AATATATATATCATATATGATATATATGAATATATATATCATATATGATA TATATGAATATATATATCATATATGATATATATGAATATATATATCATAT ATGATATATATGAATATATATATCATATATGATATATATGAATATATATA TCATATATGATATATATGAATATATATATCATATATGATATATATGAATA TATATATCATATATGATATATATGAATATATATATCATATATG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0187 a0002c0001t0006g0187	1	356	0.0028	242	c.924 others(259): Show c.924+1373_924+1374insCATATATGATATATATATTCATATATAT CATATATGATATATATATTCATATATATCATATATGATATATATATTCAT ATATATCATATATGATATATATATTCATATATATCATATATGATATATAT ATTCATATATATCATATATGATATATATATTCATATATATCATATATGAT ATATATATTCATATATATCATATATGATATATATATTCATATATATCATA TATGATATATATAT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41			chr14	TogoVar
ATP9A_chr20_51591514_51773390	51650511	G G	GTTGTAAT others(235): Show GTTGTAATCCTAGCACTTTGGGAGGCTGAGGTGAGTGGATCATTTGAGGT TAGGAGTTTGAGACCAGCCTGGCCAGCATGGTGAAACCCTGTCTCTACTA AAAATATAAAAATTAACCAGGCATGGTGGTGGGCACCTGTAGTCCCAGCT ACTCAGGAGGCTGAGGCAGAAGAATGGTTTGAACCCGGGAGGCGGAGATT GCAGTGAGCCAAGATCACACCACTGGGCGACAGAGCAAGACTC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0122 a0001c0001t0039g0122	1	312	0.0032	242	c.150 others(261): Show c.1506+6426_1506+6427insGAGTCTTGCTCTGTCGCCCAGTGGTG TGATCTTGGCTCACTGCAATCTCCGCCTCCCGGGTTCAAACCATTCTTCT GCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCATGCCTG GTTAATTTTTATATTTTTAGTAGAGACAGGGTTTCACCATGCTGGCCAGG CTGGTCTCAAACTCCTAACCTCAAATGATCCACTCACCTCAGCCTCCCAA AGTGCTAGGATTACAA	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	14/27			chr20	TogoVar
ATXN7L1_chr7_105599772_105881599	105825614	A A	AAGCATGT others(235): Show AAGCATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGT GCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCA CCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0238 a0001c0001t0003g0238	1	252	0.0040	242	c.251 others(261): Show c.251-36907_251-36906insAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAACATGCT	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	2/11			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(235): Show GGGAGGGAGAGGGGGGAGGGGGGAGGGAGGGGGAGGGGGGAGGGGGAGGG GGAAGGAGAGGGGGGATGGGGATGGGGGAGGGGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAAGGGGAGGGGAGGGGGAGGGGGAGGGGGAGAGGG GGGAGGGGAGGGGGAGAGGGGGGAGGGAGAGGGGGAGGGAGATGGACTGG GGAGGAGGGGGATGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	298	0.0034	242	c.51+ others(255): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCATCCCCATCCCC CCTCTCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCCTCCCCC CTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(235): Show GGGAGGGAGAGGGGGGGAGGGGGAGGGAGGGGGAGGGGGAGGGGGAAGGA GAGGGGGGAGGGGGATGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGA GGGGGAGGGGAGGGGGAGGGGAAAGAGGGGGGGAGGGGAGGGGGAGAGGG GGAGGGGAGGGGGAGAGGGGGGAGGGAGAGGGGGAGGGAGATGGACTGGG GAGGAGGGGGATGGACTGGGGAGGAGGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0143 a0001c0002t0001g0143	1	298	0.0034	242	c.51+ others(255): Show c.51+438_51+439insTCCCCAGTCCATCCCCCCTCCTCCCCAGTCCA TCCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCC CCCTCCCCTCCCCCTCTCCCCCTCCCCTCCCCCCCTCTTTCCCCTCCCCC TCCCCTCCCCCTCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCATCCC CCTCCCCCCTCTCCTTCCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCC CTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BTAF1_chr10_91918770_92036437	92012181	C C	CTCCCCTC others(235): Show CTCCCCTCCTCCCCTCCCCTCCTCTCCCCTCCTCCCCTCCCCTCCTCTCC TCTCCTCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	330	0.0030	242	c.431 others(259): Show c.4311+766_4311+767insTCCCCTCCTCCCCTCCCCTCCTCTCCCC TCCTCCCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCT CCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCTCCC CTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCC TCCTCCCCTCCCCT	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37			chr10	TogoVar
C8B_chr1_56924207_56971015	56929081	A A	AACTGTGT others(235): Show AACTGTGTAACAGTGGACAAATTGCTTAAGTGCTCTAAGCCTCAGCTCCC CCCAGCTGTTCTAGCATCTACCTTATAAGGTTGTCATGAGGATGGAAGGG ATTAATACACAGAATCCATGGCTGACACATAGTAGTCATCCAATAAACAG TAACTACCATTATTATTGAACAAGACCTTGTACTCATCAAGGAAAGAATG CATTAATATTTATTCATTGATTCATTATTAAGCACCTATTTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0188 a0007c0007t0002g0188	1	402	0.0025	242	c.32 others(251): Show c.322_*323insATAAATAGGTGCTTAATAATGAATCAATGAATAAAT ATTAATGCATTCTTTCCTTGATGAGTACAAGGTCTTGTTCAATAATAATG GTAGTTACTGTTTATTGGATGACTACTATGTGTCAGCCATGGATTCTGTG TATTAATCCCTTCCATCCTCATGACAACCTTATAAGGTAGATGCTAGAAC AGCTGGGGGGAGCTGAGGCTTAGAGCACTTAAGCAATTTGTCCACTGTTA CACAGT	C8B	ENSG00000021852.14	transcript	ENST00000371237.9	protein_coding		125		chr1	TogoVar
C8B_chr1_56924207_56971015	56929081	A A	AACTGTGT others(235): Show AACTGTGTAACAGTGGACAAATTGCTTAAGTGCTCTAAGCCTCAGTTCCC CCCAGCTGTTCTAGCATCTACCTTATAAGGTTGTCATGAGGATGGAAGGG ATTAATACACAGAATCCATGGCTGACACATAGTAGTCATCCAATAAACAG TAACTACCATTATTATTGAACAAGACCTTGTACTCATCAAGGAAAGAATG CATTAATATTTATTCATTGATTCATTATTAAGCACCTATTTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(128): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG01106.hp2 HG01123.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02630.hp1 HG02723.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG03209.hp2 HG03239.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03688.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18943.hp2 NA18945.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18968.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18988.hp2 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA19010.hp1 NA19010.hp2 NA19065.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19088.hp1 NA20300.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0002c0002t0002 a0003c0003t0002 a0001c0001t0002 a0002c0002t0002 a0003c0003t0002	a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0008 others(95): Show a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0041 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0111 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0136 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0175 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0191 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0212 a0001c0001t0002g0219 a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0235 a0001c0001t0002g0237 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0261 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0292 a0001c0001t0002g0302 a0002c0002t0002g0303 a0003c0003t0002g0247	131	402	0.3259	242	c.32 others(251): Show c.322_*323insATAAATAGGTGCTTAATAATGAATCAATGAATAAAT ATTAATGCATTCTTTCCTTGATGAGTACAAGGTCTTGTTCAATAATAATG GTAGTTACTGTTTATTGGATGACTACTATGTGTCAGCCATGGATTCTGTG TATTAATCCCTTCCATCCTCATGACAACCTTATAAGGTAGATGCTAGAAC AGCTGGGGGGAACTGAGGCTTAGAGCACTTAAGCAATTTGTCCACTGTTA CACAGT	C8B	ENSG00000021852.14	transcript	ENST00000371237.9	protein_coding		125		chr1	TogoVar
CACNA1H_chr16_1148106_1226768	1185667	G G	GGAGGCGT others(235): Show GGAGGCGTGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTGTG TACGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGG GGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGG GGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAG GCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	338	0.0030	242	c.300 others(259): Show c.300-9299_300-9298insTGGTGTGTACGGGGCGGGTGAGTAGACG GTCGGGCGGGGTGTGTACGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGT AGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGT GCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCAGAGGCG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA2D2_chr3_50357613_50508634	50480935	G G	GAAGTGGG others(235): Show GAAGTGGGAGGAAGGGGGAGGAAATGGGAGGAAGGGGGGGGAAGCGGGAG GAAGGGGGAGGAAGGGGGGAAGCGGGAGGAAGGGGGGGGAAGTGGGAGGA AGGGGGAGGAAGGGGGGGGAAGGGGGGAAGTGGGAGGAAGGGGGGGGAAG GGGGAGGAAGGGGGGGGAAGGGGGAGGAAGGGGGAGGAAGGGGGGAAGCG GGAGGAAGGGGAAGGAAGGGGGAGGAAGGGGGTAAGGGGGGGT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	234	0.0043	242	c.207 others(259): Show c.207-4737_207-4736insACCCCCCCTTACCCCCTTCCTCCCCCTT CCTTCCCCTTCCTCCCGCTTCCCCCCTTCCTCCCCCTTCCTCCCCCTTCC CCCCCCTTCCTCCCCCTTCCCCCCCCTTCCTCCCACTTCCCCCCTTCCCC CCCCTTCCTCCCCCTTCCTCCCACTTCCCCCCCCTTCCTCCCGCTTCCCC CCTTCCTCCCCCTTCCTCCCGCTTCCCCCCCCTTCCTCCCATTTCCTCCC CCTTCCTCCCACTT	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	1/37			chr3	TogoVar
CAMK1D_chr10_12344547_12840545	12623378	T T	TCCCTCCT others(235): Show TCCCTCCTTTCTTTCCTTCCTCCCTCCCTCCGTCCCTCCCTTCCTCCCTC CCTTCTTTCCTTCCTTCCTCCCTCCCTCTCTCCCTCCCTCCTTCCTCCCT TCCTTCTTTCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCCTTC TTTCCCTCCTCCCTCCCTCTCTCCCTCCCTCCCTTCCTCCCTCCCTCTCT CCCTCCCTCCCTTCCTCCCTCCCTCTCTCCCTCCCTCCCTTCC	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA19030.hp1 HG03471.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0054 a0001c0002t0008 a0001c0002t0054	a0001c0002t0008g0108 a0001c0002t0054g0019 a0001c0002t0008g0108 a0001c0002t0054g0019	2	214	0.0094	242	c.225 others(261): Show c.225-43358_225-43357insCCCTCCTTTCTTTCCTTCCTCCCTCC CTCCGTCCCTCCCTTCCTCCCTCCCTTCTTTCCTTCCTTCCTCCCTCCCT CTCTCCCTCCCTCCTTCCTCCCTTCCTTCTTTCCTTCCTCCCTCCCTCCG TCCCTCCCTCCCTCCCTCCCTTCTTTCCCTCCTCCCTCCCTCTCTCCCTC CCTCCCTTCCTCCCTCCCTCTCTCCCTCCCTCCCTTCCTCCCTCCCTCTC TCCCTCCCTCCCTTCC	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	2/10			chr10	TogoVar
CAMTA1_chr1_6780454_7774706	6940912	A A	AGGGGGTC others(235): Show AGGGGGTCCTCACAGGGAGGGGGGTCCTCAGAGGGAGAGGGATCCTCCCG GGGAAGGGGGATCCTCACGGGGAAGGGCATCCTCATGGGGAGGGGGATCC TCAGGGGGAGGGGAGATCCTCATGAGGAGGGGGGATCCTCACGGGGAGGG GGGGATCCTCCTCACAGGGAGGTGGATCCTCACGGGGAAGGGATCCTCAG GGGGAGGGGGATCCTCACAGGGAGGGGGGATCCTCACAGGGAG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0047 a0001c0001t0003g0047	1	58	0.0172	242	c.234 others(263): Show c.234+115706_234+115707insGTCCTCACAGGGAGGGGGGTCCTC AGAGGGAGAGGGATCCTCCCGGGGAAGGGGGATCCTCACGGGGAAGGGCA TCCTCATGGGGAGGGGGATCCTCAGGGGGAGGGGAGATCCTCATGAGGAG GGGGGATCCTCACGGGGAGGGGGGGATCCTCCTCACAGGGAGGTGGATCC TCACGGGGAAGGGATCCTCAGGGGGAGGGGGATCCTCACAGGGAGGGGGG ATCCTCACAGGGAGGGGG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar

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