Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
VIPR2_chr7_159023175_159149867	159041605	C C	CTTTCTAC others(96): Show CTTTCTACATCACAGGTCCGTTGAGGGTCCGTCAGGGTCCTGAGGGTCCG TCATGGGTCCTGAGGGTCTGTAACGGGTCCTGAGGGTCTGTCATGGGTCA CTGT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00673.hp2 HG01256.hp1 others(9): Show HG00140.hp2 HG00673.hp2 HG01256.hp1 HG01258.hp2 HG02056.hp2 HG02080.hp1 HG03490.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp1 NA19057.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0018 a0001c0001 a0001c0004 a0002c0018	a0001c0001t0004 a0001c0001t0032 a0001c0004t0004 others(2): Show a0001c0001t0004 a0001c0001t0032 a0001c0004t0004 a0001c0004t0011 a0002c0018t0004	a0001c0001t0004g0194 a0001c0001t0032g0193 a0001c0004t0004g0191 others(9): Show a0001c0001t0004g0194 a0001c0001t0032g0193 a0001c0004t0004g0191 a0001c0004t0004g0214 a0001c0004t0004g0309 a0001c0004t0004g0310 a0001c0004t0004g0311 a0001c0004t0004g0326 a0001c0004t0011g0167 a0001c0004t0011g0208 a0001c0004t0011g0325 a0002c0018t0004g0308	12	336	0.0357	103	c.597 others(120): Show c.597+1429_597+1430insACAGTGACCCATGACAGACCCTCAGGAC CCGTTACAGACCCTCAGGACCCATGACGGACCCTCAGGACCCTGACGGAC CCTCAACGGACCTGTGATGTAGAAA	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	6/12			chr7	TogoVar
WDR27_chr6_169452212_169707029	169481531	C C	CGCCTTTA others(96): Show CGCCTTTATGAGCTGTAGCACTCACCGCAAAAGTCTGCAGCTTCACTCCT GAGGCCAGTGAGAACATGAACCAACTAGTAGGAACGAACAACTCCAGACG CACT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0015 a0007c0012t0015	a0007c0012t0015g0035 a0007c0012t0015g0035	1	294	0.0034	103	c.264 others(124): Show c.2646-23898_2646-23897insAGTGCGTCTGGAGTTGTTCGTTCC TACTAGTTGGTTCATGTTCTCACTGGCCTCAGGAGTGAAGCTGCAGACTT TTGCGGTGAGTGCTACAGCTCATAAAGGC	WDR27	ENSG00000184465.16	transcript	ENST00000448612.6	protein_coding	25/25			chr6	TogoVar
WDR87_chr19_37879823_37911594	37881138	T T	TAATATAT others(96): Show TAATATATATATAATATATATATTATATATATATTATATATATAATATAT ATATATTTTATATATATATTTTATATATATATATATATATAGAGAGAGAG AGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0031 a0031	a0031c0039 a0031c0039	a0031c0039t0001 a0031c0039t0001	a0031c0039t0001g0116 a0031c0039t0001g0116	1	330	0.0030	103	c.37 others(114): Show c.3793_*3794insCTCTCTCTCTCTCTATATATATATATATATATAA AATATATATATAAAATATATATATATTATATATATAATATATATATAATA TATATATTATATATATATT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3684		chr19	TogoVar
WRAP73_chr1_3625770_3655103	3643567	T T	TGAGCCCC others(96): Show TGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGGACCCAGCGGCCCCG CTGAGCCCCGGACATGGGGTCGCGCCTTCGGAAGGGGACCCAGCGGCCCC GCTG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0145 a0001c0002t0001g0145	1	382	0.0026	103	c.339 others(120): Show c.339+3098_339+3099insCAGCGGGGCCGCTGGGTCCCCTTCCGAA GGCGCGACCCCATGTCCGGGGCTCAGCGGGGCCGCTGGGTCCCCTTCCGA AGGCGCGACCCCATGTCCGGGGCTC	WRAP73	ENSG00000116213.16	transcript	ENST00000270708.12	protein_coding	3/11			chr1	TogoVar
ZDHHC2_chr8_17151482_17229799	17199476	T T	TTCTTCTT others(96): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCGTCTTCGTCTTCGTCTTCGTCTT CGTCTTCGTCTTCGTCTTCTGTCTTCGTCTTCGTCTTCGTCTTCTTCGTC TTTG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0109 a0001c0001t0005g0109	1	390	0.0026	103	c.476 others(120): Show c.476+1089_476+1090insGTCTTCGTCTTCGTCTTCGTCTTCGTCT TCGTCTTCGTCTTCTGTCTTCGTCTTCGTCTTCGTCTTCTTCGTCTTTGT CTTCTTCTTCTTCTTCTTCTTCTTC	ZDHHC2	ENSG00000104219.13	transcript	ENST00000262096.13	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
ZDHHC2_chr8_17151482_17229799	17199479	T T	TTCTTCTT others(96): Show TTCTTCTTCTTCTTCTTCTTCGTCTTCGTCTTCGTCTTCGTCTTCGTCTT CGTCTTCGTCTTCGTCTTCTGTCTTCGTCTTCGTCTTCGTCTTCTTCGTC TTTG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	390	0.0026	103	c.476 others(120): Show c.476+1086_476+1087insGTCTTCGTCTTCGTCTTCGTCTTCGTCT TCGTCTTCGTCTTCGTCTTCTGTCTTCGTCTTCGTCTTCGTCTTCTTCGT CTTTGTCTTCTTCTTCTTCTTCTTC	ZDHHC2	ENSG00000104219.13	transcript	ENST00000262096.13	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
ZDHHC2_chr8_17151482_17229799	17199479	T T	TTCTTCTT others(96): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCGTCTTCGTCTTCGTCTTCGTCTT CGTCTTCGTCTTCGTCTTCTGTCTTCGTCTTCGTCTTCGTCTTCTTCGTC TTTG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0255 a0001c0001t0005g0255	1	390	0.0026	103	c.476 others(120): Show c.476+1092_476+1093insGTCTTCGTCTTCGTCTTCGTCTTCGTCT TCGTCTTCGTCTTCTGTCTTCGTCTTCGTCTTCGTCTTCTTCGTCTTTGT CTTCTTCTTCTTCTTCTTCTTCTTC	ZDHHC2	ENSG00000104219.13	transcript	ENST00000262096.13	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
ZDHHC2_chr8_17151482_17229799	17199482	T T	TTCTTCTT others(96): Show TTCTTCTTCTTCTTCTTCTTCGTCTTCGTCTTCGTCTTCGTCTTCGTCTT CGTCTTCGTCTTCGTCTTCTGTCTTCGTCTTCGTCTTCGTCTTCTTCGTC TTCG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0366 a0001c0001t0005g0366	1	390	0.0026	103	c.476 others(120): Show c.476+1089_476+1090insGTCTTCGTCTTCGTCTTCGTCTTCGTCT TCGTCTTCGTCTTCGTCTTCTGTCTTCGTCTTCGTCTTCGTCTTCTTCGT CTTCGTCTTCTTCTTCTTCTTCTTC	ZDHHC2	ENSG00000104219.13	transcript	ENST00000262096.13	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
ZFAT_chr8_134472788_134718031	134498559	G G	GGTGGAGC others(96): Show GGTGGAGCTGGGATGCCCCCGTTGCTGGTTACACACACAGCCTGATTTGG TAGGGTTGGGGTGGAACTGGGATGCCCCCGTTGCTGGTTACACACAGAGC CTGA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0270 a0001c0014t0001g0270	1	274	0.0037	103	c.349 others(124): Show c.3492+11059_3492+11060insTCAGGCTCTGTGTGTAACCAGCAA CGGGGGCATCCCAGTTCCACCCCAACCCTACCAAATCAGGCTGTGTGTGT AACCAGCAACGGGGGCATCCCAGCTCCAC	ZFAT	ENSG00000066827.16	transcript	ENST00000377838.8	protein_coding	15/15			chr8	TogoVar
ZFPM1_chr16_88448280_88542031	88501123	A A	ATGGGTGC others(96): Show ATGGGTGCGGGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCGG GTGTGGGTGCATGGGCTCTCCCGCAGGTACTGGTGATGATGGAGATAGTG GGCC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0032 a0032	a0032c0058 a0032c0058	a0032c0058t0018 a0032c0058t0018	a0032c0058t0018g0078 a0032c0058t0018g0078	1	318	0.0031	103	c.268 others(122): Show c.268+11973_268+11974insGTGCGGGGGGCCCTCCCGCAGGTGCT GGTGATGATGGAGATAGCGGGTGTGGGTGCATGGGCTCTCCCGCAGGTAC TGGTGATGATGGAGATAGTGGGCCTGG	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZFPM1_chr16_88448280_88542031	88521780	A A	ACCCTGTG others(96): Show ACCCTGTGCTGTTCCCTCCCCTGTGCTGTTCCCTCCCCTGTGCTGTTCCC TCCCCTGTGCTGTTCCCACACCCTGTGCTGTTCCCTCCCCTGTGCTGTTC CCTC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0011 a0011	a0011c0024 a0011c0024	a0011c0024t0001 a0011c0024t0001	a0011c0024t0001g0125 a0011c0024t0001g0125	1	318	0.0031	103	c.403 others(120): Show c.403-4979_403-4978insGTGCTGTTCCCACACCCTGTGCTGTTCC CTCCCCTGTGCTGTTCCCTCCCCTGTGCTGTTCCCTCCCCTGTGCTGTTC CCTCCCCTGTGCTGTTCCCTCCCCT	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZNF143_chr11_9456012_9533524	9486371	A A	ATAATATA others(96): Show ATAATATATATAATATATTATATATATATAATATATATAATATATATAAT ATATATTATATATATAATATATATAATATATTATATATATATAATATATA TAAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	332	0.0030	103	c.645 others(120): Show c.645+6825_645+6826insTAATATATATAATATATTATATATATAT AATATATATAATATATATAATATATATTATATATATAATATATATAATAT ATTATATATATATAATATATATAAT	ZNF143	ENSG00000166478.10	transcript	ENST00000396602.7	protein_coding	7/15			chr11	TogoVar
ZNF236_chr18_76817557_76977901	76975154	C C	CCTTTTCT others(96): Show CCTTTTCTTTTCTTTTCTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	346	0.0029	103	c.68 others(114): Show c.6815_*6816insCTTTTCTTTTCTTTTCTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTT	ZNF236	ENSG00000130856.18	transcript	ENST00000320610.14	protein_coding		2254		chr18	TogoVar
ZNF37A_chr10_38089337_38129625	38112737	T T	TGGTCTTG others(96): Show TGGTCTTGGTCTTGGTCTTGGTCTTGGTCTTGGTCTTGGTCTTGGTCTTG GTCTTGGTCTTGGTCTTGGTCTTGGTCTTGGTCTTGGTCTTGGTCTTGGT CTTG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01069.hp1 HG01169.hp2 others(11): Show HG00609.hp2 HG01069.hp1 HG01169.hp2 HG02486.hp1 HG02683.hp1 NA18747.hp1 NA18943.hp2 NA18978.hp2 NA18979.hp2 NA18985.hp2 NA18986.hp2 NA18993.hp1 NA19003.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0037	a0001c0001t0002g0290 a0001c0001t0002g0320 a0001c0001t0002g0321 others(11): Show a0001c0001t0002g0290 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0328 a0001c0001t0002g0336 a0001c0001t0004g0249 a0001c0001t0004g0294 a0001c0001t0005g0261 a0001c0001t0005g0272 a0001c0001t0005g0281 a0001c0001t0005g0346 a0001c0001t0008g0289 a0001c0001t0012g0280 a0001c0001t0037g0253	14	386	0.0363	103	c.16- others(118): Show c.16-2018_16-2017insGGTCTTGGTCTTGGTCTTGGTCTTGGTCTT GGTCTTGGTCTTGGTCTTGGTCTTGGTCTTGGTCTTGGTCTTGGTCTTGG TCTTGGTCTTGGTCTTGGTCTTG	ZNF37A	ENSG00000075407.19	transcript	ENST00000685332.1	protein_coding	5/7			chr10	TogoVar
ZNF573_chr19_37733302_37784586	37751688	T T	TATAGACA others(96): Show TATAGACAGCATATATACTGTGTATATATACAGTATAGACAGCATATATA CTGTGTATATATACAGTATAGACAGCATATATACTGTGTATATATACAGT ATAG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	350	0.0029	103	c.296 others(122): Show c.296-11495_296-11494insCTATACTGTATATATACACAGTATAT ATGCTGTCTATACTGTATATATACACAGTATATATGCTGTCTATACTGTA TATATACACAGTATATATGCTGTCTAT	ZNF573	ENSG00000189144.15	transcript	ENST00000536220.7	protein_coding	4/4			chr19	TogoVar
ZNF681_chr19_23734195_23763891	23761920	C C	CTTTCTTT others(96): Show CTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTTTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCT TTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0225 a0002c0002t0001g0225	1	394	0.0025	103	c.-31 others(114): Show c.-3172_-3171insAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGAGAGAGAGAGAG AGAGAAAGAAAGAAAGAAA	ZNF681	ENSG00000196172.9	transcript	ENST00000402377.3	protein_coding		3030		chr19	TogoVar
ZPBP_chr7_49932441_50098246	49982047	G G	GATTATAT others(96): Show GATTATATAATTATATGAATTATATAGATTATATAATTATATGAATTATA TAGATTATATAATTATATGAATTATATAGATTATATAATTATATGAATTA TATA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	278	0.0036	103	c.961 others(120): Show c.961+1294_961+1295insTATATAATTCATATAATTATATAATCTA TATAATTCATATAATTATATAATCTATATAATTCATATAATTATATAATC TATATAATTCATATAATTATATAAT	ZPBP	ENSG00000042813.8	transcript	ENST00000046087.7	protein_coding	7/7			chr7	TogoVar
AATK_chr17_81112295_81171221	81140767	G G	GGCTGTGG others(97): Show GGCTGTGGGGCCGTGAGCCGTGGGGCCGTGGGGACCGTGGGGCCGTGAGC CGTGGGGCCGTGGGACCGTGGGGCCGTGGGGACCATGGGGCCGTGGGGCC GTTGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG00733.hp2 others(36): Show HG00280.hp1 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01358.hp2 HG01496.hp2 HG01516.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02559.hp2 HG02602.hp2 HG02647.hp1 HG02683.hp2 HG02717.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03195.hp2 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 NA18747.hp1 NA18945.hp1 NA18975.hp2 NA18977.hp1 NA19079.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0016 a0018 a0035 a0037	a0001c0001 a0001c0011 a0002c0002 others(14): Show a0001c0001 a0001c0011 a0002c0002 a0002c0073 a0003c0003 a0003c0007 a0003c0023 a0003c0044 a0004c0005 a0004c0029 a0004c0035 a0005c0021 a0006c0017 a0016c0026 a0018c0072 a0035c0063 a0037c0036	a0001c0001t0001 a0001c0011t0001 a0002c0002t0001 others(17): Show a0001c0001t0001 a0001c0011t0001 a0002c0002t0001 a0002c0073t0007 a0003c0003t0001 a0003c0003t0002 a0003c0007t0001 a0003c0007t0019 a0003c0023t0001 a0003c0044t0002 a0004c0005t0001 a0004c0005t0005 a0004c0029t0001 a0004c0035t0001 a0005c0021t0001 a0006c0017t0002 a0016c0026t0001 a0018c0072t0001 a0035c0063t0001 a0037c0036t0001	a0001c0001t0001g0005 a0001c0001t0001g0098 a0001c0001t0001g0143 others(32): Show a0001c0001t0001g0005 a0001c0001t0001g0098 a0001c0001t0001g0143 a0001c0011t0001g0198 a0001c0011t0001g0249 a0002c0002t0001g0128 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0073t0007g0196 a0003c0003t0001g0240 a0003c0003t0002g0096 a0003c0003t0002g0197 a0003c0003t0002g0220 a0003c0003t0002g0307 a0003c0007t0001g0190 a0003c0007t0019g0321 a0003c0023t0001g0172 a0003c0023t0001g0202 a0003c0044t0002g0252 a0004c0005t0001g0015 a0004c0005t0001g0086 a0004c0005t0001g0180 a0004c0005t0001g0181 a0004c0005t0001g0258 a0004c0005t0005g0024 a0004c0029t0001g0021 a0004c0035t0001g0114 a0005c0021t0001g0206 a0005c0021t0001g0337 a0006c0017t0002g0124 a0006c0017t0002g0126 a0016c0026t0001g0011 a0018c0072t0001g0322 a0035c0063t0001g0111 a0037c0036t0001g0079	39	368	0.1060	104	c.56- others(119): Show c.56-6267_56-6266insTCAACGGCCCCACGGCCCCATGGTCCCCAC GGCCCCACGGTCCCACGGCCCCACGGCTCACGGCCCCACGGTCCCCACGG CCCCACGGCTCACGGCCCCACAGC	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	1/13			chr17	TogoVar
ABAT_chr16_8669617_8789570	8737989	G G	GAAGGAAG others(97): Show GAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGA	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0165 a0001c0003t0003g0165	1	362	0.0028	104	c.70+ others(119): Show c.70+2181_70+2182insAGGAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA1_chr9_104776006_104933155	104862696	G G	GCCCCCCA others(97): Show GCCCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCA CCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACC CCCAC	intron_variant intron_variant	MODIFIER	HG02148.hp2 NA18982.hp2 HG02148.hp2 NA18982.hp2	a0001 a0016 a0001 a0016	a0001c0001 a0016c0019 a0001c0001 a0016c0019	a0001c0001t0001 a0016c0019t0006 a0001c0001t0001 a0016c0019t0006	a0001c0001t0001g0196 a0016c0019t0006g0250 a0001c0001t0001g0196 a0016c0019t0006g0250	2	318	0.0063	104	c.422 others(119): Show c.422-897_422-896insGTGGGGGTGGGGGTGGGGGTGGGGGTGGGG GTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGT GGGGGTGGGGGTGGGGGTGGGGGG	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCA1_chr9_104776006_104933155	104862701	G G	GGCCGGGC others(97): Show GGCCGGGCCGGGCCGGGCCGGGCCGGGCCGGCCCCCCACCCCCACCCCCA CCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCCACCCCCAC CCCCA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0017 a0017	a0017c0034 a0017c0034	a0017c0034t0001 a0017c0034t0001	a0017c0034t0001g0153 a0017c0034t0001g0153	1	318	0.0031	104	c.422 others(119): Show c.422-902_422-901insTGGGGGTGGGGGTGGGGGGTGGGGGTGGGG GTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGGCCGGCC CGGCCCGGCCCGGCCCGGCCCGGC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCB11_chr2_168915781_169036324	168975438	T T	TATAAATA others(97): Show TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATT TATAG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01169.hp1 HG01243.hp1 others(2): Show HG00642.hp2 HG01169.hp1 HG01243.hp1 NA18952.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0001c0001t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0170 a0001c0001t0001g0270 a0001c0002t0002g0269 others(2): Show a0001c0001t0001g0170 a0001c0001t0001g0270 a0001c0002t0002g0269 a0001c0002t0003g0127 a0001c0002t0003g0169	5	306	0.0163	104	c.130 others(123): Show c.1308+1138_1308+1139insCTATAAATATAAAAATATTTATATAT TTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTATAT ATTTATCTATAAATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975476	T T	TATAAATA others(97): Show TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATT TATAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01070.hp1 HG01071.hp1 others(9): Show HG00642.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG02602.hp1 HG03491.hp1 HG03579.hp1 HG03710.hp2 HG04184.hp2 HG04199.hp2 NA18949.hp2 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0027	a0001c0001t0001g0048 a0001c0001t0001g0145 a0001c0001t0001g0161 others(9): Show a0001c0001t0001g0048 a0001c0001t0001g0145 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0188 a0001c0001t0001g0245 a0001c0002t0002g0210 a0001c0002t0003g0152 a0001c0002t0003g0211 a0001c0002t0027g0129	12	306	0.0392	104	c.130 others(123): Show c.1308+1100_1308+1101insCTATAAATATAAAAATATTTATATAT TTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTATAT ATTTATCTATAAATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCC2_chr10_99777640_99857594	99814286	C C	CACACATG others(97): Show CACACATGTATATATACACACGTATGTATACACACATGTATATATACACA CGTATGTATACACACATGTATATATACACACGTATGTATACACACATGTA TATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0004 a0004	a0004c0029 a0004c0029	a0004c0029t0001 a0004c0029t0001	a0004c0029t0001g0331 a0004c0029t0001g0331	1	336	0.0030	104	c.209 others(123): Show c.2094+1147_2094+1148insTGTATATATACACACGTATGTATACA CACATGTATATATACACACGTATGTATACACACATGTATATATACACACG TATGTATACACACATGTATATATACACA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABCC2_chr10_99777640_99857594	99814568	C C	CACACACA others(97): Show CACACACATATGTGTATATACACATATACACACATATGTGTATATACACA TATACACACATATGTGTATATACACATATACACACATATGTGTATATACA CATAT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	336	0.0030	104	c.209 others(123): Show c.2094+1457_2094+1458insTATGTGTATATACACATATACACACA TATGTGTATATACACATATACACACATATGTGTATATACACATATACACA CATATGTGTATATACACATATACACACA	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	16/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACACB_chr12_109111587_109273226	109210125	A A	ACACGTGT others(97): Show ACACGTGTGTATATACGTATATACACACGTGTGTATATACACGTACATAT GTGTATATATGTGTATATACACACGTACATATGTGTATATATACACACGT GTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02723.hp2 HG00280.hp2 HG02723.hp2	a0001 a0001	a0001c0010 a0001c0013 a0001c0010 a0001c0013	a0001c0010t0001 a0001c0013t0001 a0001c0010t0001 a0001c0013t0001	a0001c0010t0001g0188 a0001c0013t0001g0256 a0001c0010t0001g0188 a0001c0013t0001g0256	2	308	0.0065	104	c.324 others(121): Show c.3249+772_3249+773insCACGTGTGTATATACGTATATACACACG TGTGTATATACACGTACATATGTGTATATATGTGTATATACACACGTACA TATGTGTATATATACACACGTGTGTG	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	21/52			chr12	TogoVar
ACADSB_chr10_123004006_123063290	123045156	T T	TAGATATA others(97): Show TAGATATATATATAGATATATATATATATAGATATATATATAGATATATA TATATATATATAGATATATATATAGATATATATATATATATAGATATATA TATAG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0027 a0001c0011t0027	a0001c0011t0027g0212 a0001c0011t0027g0212	1	374	0.0027	104	c.900 others(119): Show c.900+672_900+673insGATATATATATAGATATATATATATATAGA TATATATATAGATATATATATATATATATAGATATATATATAGATATATA TATATATATAGATATATATATAGA	ACADSB	ENSG00000196177.13	transcript	ENST00000358776.7	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACAP3_chr1_1287391_1312930	1289263	C C	CCGTGTCT others(97): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0002 a0001c0019t0002	a0001c0019t0002g0133 a0001c0019t0002g0133	1	295	0.0034	104	c.43 others(115): Show c.4300_*4301insACGGAGCAGAGACACGGGACGGAGCAGAGACACG GGACGGAGCAGACACGGGACGGGGCAGAGACACGGGACGGAGCAGAGACA CGGGACGGAGCAGAGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3127		chr1	TogoVar
ACAT2_chr6_159757045_159784112	159761866	C C	CCGCCCCG others(97): Show CCGCCCCGCGCCCCGCGCCCCGGCCTCACTTCCGCCCCGCGCCCCGCGCC CCGGCCTCACTTCCGCCCCGCGCCCCGCGCCCCGCGCCCCGCGCCCCGCG CCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	404	0.0025	104	c.-22 others(113): Show c.-222_-221insCGCCCCGCGCCCCGCGCCCCGGCCTCACTTCCGCCC CGCGCCCCGCGCCCCGGCCTCACTTCCGCCCCGCGCCCCGCGCCCCGCGC CCCGCGCCCCGCGCCCCG	ACAT2	ENSG00000120437.9	transcript	ENST00000367048.5	protein_coding		178		chr6	TogoVar
ACCS_chr11_44061270_44089237	44074734	C C	CTCTTTCT others(97): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTT CTCTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0204 a0004c0005t0001g0204	1	438	0.0023	104	c.489 others(117): Show c.489+94_489+95insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTTTCTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTT	ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACTRT3_chr3_169761921_169774561	169771266	A A	ATATAAAA others(97): Show ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	104	c.-17 others(115): Show c.-1747_-1746insATATATAAATATAAATTTTTATATATGATATATA AATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGATA TATAAATATAAATTTTTATA	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1706		chr3	TogoVar
ADAM9_chr8_38991973_39110261	39045385	G G	GGTGTGTC others(97): Show GGTGTGTCTACACACACCTATATGTGCGTGTGTGTACACACACCTATATG TGCGTGTGTGTACACACACCTATATGTGCGTGTGTGTACACACACCTATA TGTGC	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18952.hp2 NA19074.hp2 HG02083.hp2 NA18952.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0271 a0001c0001t0001g0291 a0001c0001t0001g0230 a0001c0001t0001g0271 a0001c0001t0001g0291	3	332	0.0090	104	c.130 others(123): Show c.1302+3274_1302+3275insCTACACACACCTATATGTGCGTGTGT GTACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGTGT GTGTACACACACCTATATGTGCGTGTGT	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAMTS17_chr15_99966437_100346975	100225767	T T	TCCCATTC others(97): Show TCCCATTCTGTCCTTACAGCAGTCACGGCCTCTGTGCCCACTCTGTCCTT ACAGCAGTCACGGTCTCTGTGCCATTCAGTCCTTACAGCAGTCACGGTCT CTGTG	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0136 a0004c0003t0001g0136	1	228	0.0044	104	c.107 others(125): Show c.1076-26345_1076-26344insCACAGAGACCGTGACTGCTGTAAG GACTGAATGGCACAGAGACCGTGACTGCTGTAAGGACAGAGTGGGCACAG AGGCCGTGACTGCTGTAAGGACAGAATGGG	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	7/21			chr15	TogoVar
ADAMTS6_chr5_65143738_65486920	65230302	A A	ATATATGA others(97): Show ATATATGAAATATATATATAATACATTATATATATGAAATATATATAATA CATTATATATATGAAATATATATAATACATTATATATATGAAATATATAA TACAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	204	0.0049	104	c.193 others(123): Show c.1934-4084_1934-4083insATGTATTATATATTTCATATATATAA TGTATTATATATATTTCATATATATAATGTATTATATATATTTCATATAT ATAATGTATTATATATATATTTCATATA	ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	15/24			chr5	TogoVar
ADAMTS6_chr5_65143738_65486920	65230729	T T	TATATATA others(97): Show TATATATAATACATTATATATATGAAATATATATAATACATTATATATAT GAAATATATATAATACATGATATATGTGAAATATATAATACATGATATAT GTGAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	204	0.0049	104	c.193 others(123): Show c.1934-4511_1934-4510insTTCACATATATCATGTATTATATATT TCACATATATCATGTATTATATATATTTCATATATATAATGTATTATATA TATTTCATATATATAATGTATTATATAT	ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	15/24			chr5	TogoVar
ADAMTS6_chr5_65143738_65486920	65230755	T T	TATATATA others(97): Show TATATATAATACATTATATATATGAAATATATATAATACATTATATATAT GAAATATATATAATACATGATATATGTGAAATATATAATACATGATATAT GTGAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA20805.hp1 HG01074.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0153 a0001c0001t0001g0088 a0001c0001t0001g0153	2	204	0.0098	104	c.193 others(123): Show c.1934-4537_1934-4536insTTCACATATATCATGTATTATATATT TCACATATATCATGTATTATATATATTTCATATATATAATGTATTATATA TATTTCATATATATAATGTATTATATAT	ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	15/24			chr5	TogoVar
ADAMTS6_chr5_65143738_65486920	65230781	T T	TATATATA others(97): Show TATATATAATACATTATATATATGAAATATATATAATACATTATATATAT GAAATATATATAATACATTATATATGTGAAATATATAATACATGATATAT GTGAA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	204	0.0049	104	c.193 others(123): Show c.1934-4563_1934-4562insTTCACATATATCATGTATTATATATT TCACATATATAATGTATTATATATATTTCATATATATAATGTATTATATA TATTTCATATATATAATGTATTATATAT	ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	15/24			chr5	TogoVar
ADARB2_chr10_1172313_1742525	1575976	A A	AGGGGGCT others(97): Show AGGGGGCTCAGGGCCACGGGAGGGGGTTCAGGATCCATGGGAGGGGGCTC AGAGCCCCCTATCCAATAGGATAAGCCTATTGGAGGGGGTTCAAGGCCAC TGGAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp2 others(47): Show HG00408.hp1 HG00408.hp2 HG00438.hp2 HG01081.hp1 HG01081.hp2 HG01243.hp1 HG01884.hp2 HG01934.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02717.hp1 HG02735.hp2 HG02886.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03209.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG04184.hp2 NA18522.hp1 NA18522.hp2 NA18945.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18988.hp1 NA19011.hp1 NA19043.hp2 NA19070.hp2 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0008 a0010	a0001c0001 a0001c0003 a0001c0007 others(8): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0002c0004 a0002c0014 a0003c0006 a0004c0005 a0005c0015 a0008c0013 a0010c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(39): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0019 a0001c0001t0025 a0001c0001t0029 a0001c0001t0031 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0055 a0001c0001t0057 a0001c0003t0009 a0001c0007t0066 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0026 a0002c0002t0041 a0002c0002t0043 a0002c0002t0044 a0002c0002t0046 a0002c0002t0048 a0002c0002t0063 a0002c0002t0064 a0002c0002t0065 a0002c0004t0005 a0002c0014t0008 a0003c0006t0067 a0004c0005t0002 a0004c0005t0037 a0005c0015t0014 a0008c0013t0020 a0010c0009t0024	a0001c0001t0001g0045 a0001c0001t0001g0078 a0001c0001t0003g0098 others(47): Show a0001c0001t0001g0045 a0001c0001t0001g0078 a0001c0001t0003g0098 a0001c0001t0010g0013 a0001c0001t0011g0026 a0001c0001t0012g0009 a0001c0001t0012g0024 a0001c0001t0013g0007 a0001c0001t0015g0005 a0001c0001t0019g0038 a0001c0001t0025g0036 a0001c0001t0029g0031 a0001c0001t0031g0059 a0001c0001t0049g0040 a0001c0001t0050g0077 a0001c0001t0051g0051 a0001c0001t0052g0062 a0001c0001t0055g0089 a0001c0001t0057g0103 a0001c0003t0009g0046 a0001c0007t0066g0105 a0002c0002t0002g0043 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0075 a0002c0002t0004g0095 a0002c0002t0004g0096 a0002c0002t0004g0101 a0002c0002t0005g0033 a0002c0002t0006g0011 a0002c0002t0007g0001 a0002c0002t0007g0002 a0002c0002t0008g0047 a0002c0002t0026g0032 a0002c0002t0041g0074 a0002c0002t0043g0053 a0002c0002t0044g0049 a0002c0002t0046g0056 a0002c0002t0048g0068 a0002c0002t0063g0091 a0002c0002t0064g0100 a0002c0002t0065g0086 a0002c0004t0005g0029 a0002c0014t0008g0060 a0003c0006t0067g0080 a0004c0005t0002g0039 a0004c0005t0037g0064 a0005c0015t0014g0008 a0008c0013t0020g0037 a0010c0009t0024g0016	50	106	0.4717	104	c.100 others(125): Show c.100+161074_100+161075insCTCCAGTGGCCTTGAACCCCCTCC AATAGGCTTATCCTATTGGATAGGGGGCTCTGAGCCCCCTCCCATGGATC CTGAACCCCCTCCCGTGGCCCTGAGCCCCC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADGB_chr6_146593972_146820462	146691429	T T	TTTATATA others(97): Show TTTATATATATATTTATATATATATAAATATATATATAAATATATATATA AATATATATATATAAATATATATATAAATATATATATAAATATATATATA TATAA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0092 a0006c0006t0001g0092	1	276	0.0036	104	c.148 others(121): Show c.1486+139_1486+140insTTATATATATATTTATATATATATAAAT ATATATATAAATATATATATAAATATATATATATAAATATATATATAAAT ATATATATAAATATATATATATATAA	ADGB	ENSG00000118492.19	transcript	ENST00000397944.8	protein_coding	11/35			chr6	TogoVar
ADGRD1_chr12_130948907_131146469	131046784	T T	TCCTCCCT others(97): Show TCCTCCCTGGTCAGTGCCCCCTCCCTGGGCAGTGTCCTCCCTGGTGAGTG CTCCCTCCCTGGTCAGTGCCCCCTCCCTGGGCAGTGTCCTCCCTGGTCAG TGCTC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	242	0.0041	104	c.147 others(125): Show c.1474-30002_1474-30001insCCCCCTCCCTGGGCAGTGTCCTCC CTGGTGAGTGCTCCCTCCCTGGTCAGTGCCCCCTCCCTGGGCAGTGTCCT CCCTGGTCAGTGCTCCCTCCCTGGTCAGTG	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
ADGRE2_chr19_14727392_14783560	14774674	T T	TTTTCTTT others(97): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0095 a0002c0002t0012g0095	1	218	0.0046	104	c.32- others(117): Show c.32-369_32-368insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	2/20			chr19	TogoVar
ADSS1_chr14_104719229_104752310	104720403	C C	CGTCGTCC others(97): Show CGTCGTCCTCGTGTGGATGCTGCTGTGCACGTCTGCATAGTCTCGTGTGG ATGCTGCTGTGCACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACG TCTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0163 a0001c0001t0001g0164	2	402	0.0050	104	c.-38 others(115): Show c.-3868_-3867insGTCGTCCTCGTGTGGATGCTGCTGTGCACGTCTG CATAGTCTCGTGTGGATGCTGCTGTGCACGTCTGCGTCGTCCTCGTGTGG ATGCTGCTGTGGACGTCTGT	ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding		3825		chr14	TogoVar
AFF3_chr2_99540419_100147590	100037436	T T	TTATATTT others(97): Show TTATATTTTATATATTATTTATATATAAATATATATTTATATTTTATATA TTATTTATATATAAATATATATTTATATTTTATATATTATTTATATATAA ATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0053 a0001c0001t0025g0053	1	100	0.0100	104	c.54- others(121): Show c.54-28608_54-28505dupTATATTTATATATAAATAATATATAAAA TATAAATATATATTTATATATAAATAATATATAAAATATAAATATATATT TATATATAAATAATATATAAAATATA	AFF3	ENSG00000144218.21	transcript	ENST00000672756.2	protein_coding	4/24			chr2	TogoVar
AGBL4_chr1_48527854_50028954	49947952	A A	ATATATAT others(97): Show ATATATATATAAATATATATATTTATAAATATATATTTATATATAAATAT ATATATTTATATATATATTTATATATATAAATATATATATTTATAAATAT ATATT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0041 a0001c0001t0004g0041	1	104	0.0096	104	c.34+ others(121): Show c.34+75810_34+75811insAATATATATTTATAAATATATATATTTA TATATATAAATATATATATAAATATATATATTTATATATAAATATATATT TATAAATATATATATTTATATATATA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	1/13			chr1	TogoVar
AGBL4_chr1_48527854_50028954	49947952	A A	ATATATAT others(97): Show ATATATATATAAATATATATATTTATAAATATATATTTATATATAAATAT ATATTTATAAATATATATATTTATATATATAAATATATATTTATAAATAT ATATT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	104	0.0096	104	c.34+ others(121): Show c.34+75810_34+75811insAATATATATTTATAAATATATATTTATA TATATAAATATATATATTTATAAATATATATTTATATATAAATATATATT TATAAATATATATATTTATATATATA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	1/13			chr1	TogoVar
AKAP6_chr14_32324298_32842684	32510414	G G	GTATATAT others(97): Show GTATATATATACACATATATATGTATATATATATACATATATGTATATAT ATATATACATATATATATGTATATATATATACATATATATGTGTATATAT ATGTA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0004 a0004	a0004c0040 a0004c0040	a0004c0040t0051 a0004c0040t0051	a0004c0040t0051g0120 a0004c0040t0051g0120	1	154	0.0065	104	c.325 others(123): Show c.325-25128_325-25127insCATATATATGTATATATATATACATA TATGTATATATATATATACATATATATATGTATATATATATACATATATA TGTGTATATATATGTATATATATATACA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
ALG14_chr1_94969405_95077951	95005419	C C	CACTGGTC others(97): Show CACTGGTCACATTTAGTAGAGATGGGGTTTCACCGCATTAGCCAGGATGG TCTCCATCTCCTGACCTCGTGATCTACCTGCCTCCCAACGTGCTGGGATT ACAGG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp2 HG02622.hp2 others(3): Show HG01109.hp2 HG02258.hp2 HG02622.hp2 HG02895.hp1 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0038 a0001c0001t0101 others(1): Show a0001c0001t0037 a0001c0001t0038 a0001c0001t0101 a0001c0001t0142	a0001c0001t0037g0009 a0001c0001t0037g0018 a0001c0001t0038g0007 others(3): Show a0001c0001t0037g0009 a0001c0001t0037g0018 a0001c0001t0038g0007 a0001c0001t0038g0011 a0001c0001t0101g0008 a0001c0001t0142g0010	6	388	0.0155	104	c.420 others(123): Show c.420+21709_420+21710insCCTGTAATCCCAGCACGTTGGGAGGC AGGTAGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAATGCGGTGA AACCCCATCTCTACTAAATGTGACCAGT	ALG14	ENSG00000172339.10	transcript	ENST00000370205.6	protein_coding	3/3			chr1	TogoVar
ALX3_chr1_110054870_110075672	110062645	G G	GCGCGCGC others(97): Show GCGCGCGCGCGCGCTGGGAGTCACAACAGAAGAAAGCTGTGTGTGTGTGT GTGTCACAACAGAAGAAAGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0105 a0001c0001t0003g0105	1	422	0.0024	104	c.595 others(121): Show c.595-1083_595-1082insACACACACACACACACACACACACACAC ACACACACCTTTCTTCTGTTGTGACACACACACACACACAGCTTTCTTCT GTTGTGACTCCCAGCGCGCGCGCGCG	ALX3	ENSG00000156150.9	transcript	ENST00000647563.2	protein_coding	2/3			chr1	TogoVar
ANAPC1_chr2_111762640_111889193	111764800	T T	TTTTATAT others(97): Show TTTTATATATATATATATATATATATATATATATATATATATATATGTAT ATATATATATATATATATATGTATATATATATATGTGTATATATATATAT ATGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0260 a0001c0007t0007g0260	1	370	0.0027	104	c.44 others(115): Show c.4490_*4491insTACATATATATATATATACACATATATATATATA CATATATATATATATATATATATACATATATATATATATATATATATATA TATATATATATATATATAAA	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2839		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111764841	T T	TATATATA others(97): Show TATATATATACACATATATATATACACGTATATATATACGTATATATATA TACGTGTATATATATGTGTATATATATATACGTATATATATACGTATATA TATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp1 NA19081.hp2 NA19064.hp1 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0228 a0001c0002t0002g0230 a0001c0002t0002g0228 a0001c0002t0002g0230	2	370	0.0054	104	c.44 others(115): Show c.4449_*4450insGTATATATATACGTATATATATACGTATATATAT ATACACATATATATACACGTATATATATATACGTATATATATACGTGTAT ATATATATGTGTATATATAT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2798		chr2	TogoVar

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