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
ATP2C1_chr3_130889084_131008150	130953076	C C	CGTATGTA others(9): Show CGTATGTATGTATGTAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	382	0.0026	16	c.532 others(31): Show c.532-720_532-705dupGTATGTATGTATGTAT	ATP2C1	ENSG00000017260.20	transcript	ENST00000510168.6	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP2C1_chr3_130889084_131008150	130970369	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	382	0.0026	16	c.141 others(34): Show c.1413+996_1413+1011dupACACACACACACACAC	ATP2C1	ENSG00000017260.20	transcript	ENST00000510168.6	protein_coding	17/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP2C2_chr16_84363538_84469187	84383735	C C	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0289 a0001c0003t0001g0289	1	432	0.0023	16	c.100 others(35): Show c.100-14749_100-14748insGTGTGTGTGTGTGTGT	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP2C2_chr16_84363538_84469187	84397655	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA18972.hp1 HG02647.hp1 NA18972.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0074 a0001c0002 a0002c0074	a0001c0002t0003 a0002c0074t0002 a0001c0002t0003 a0002c0074t0002	a0001c0002t0003g0099 a0002c0074t0002g0063 a0001c0002t0003g0099 a0002c0074t0002g0063	2	432	0.0046	16	c.100 others(31): Show c.100-841_100-826dupAAAAAAAAAAAAAAAA	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP2C2_chr16_84363538_84469187	84397670	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0027 a0002c0006t0001g0027	1	432	0.0023	16	c.100 others(31): Show c.100-826_100-825insAAAAAAAAAAAACAAA	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP2C2_chr16_84363538_84469187	84424576	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	432	0.0023	16	c.920 others(33): Show c.920-1151_920-1136dupTTTTTTTTTTTTTTTT	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	10/26		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP5F1A_chr18_46075248_46103296	46094186	C C	CACACACA others(9): Show CACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG01943.hp1 others(6): Show HG01516.hp2 HG01517.hp2 HG01943.hp1 HG02280.hp2 HG02572.hp1 HG02723.hp2 HG02886.hp2 HG02976.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0017 a0001c0001t0093 others(1): Show a0001c0001t0006 a0001c0001t0017 a0001c0001t0093 a0001c0001t0094	a0001c0001t0006g0010 a0001c0001t0017g0194 a0001c0001t0017g0204 others(2): Show a0001c0001t0006g0010 a0001c0001t0017g0194 a0001c0001t0017g0204 a0001c0001t0093g0192 a0001c0001t0094g0193	9	390	0.0231	16	c.139 others(31): Show c.139+866_139+867insATGTGTGTGTGTGTGT	ATP5F1A	ENSG00000152234.16	transcript	ENST00000398752.11	protein_coding	2/11			chr18	TogoVar
ATP5MC1_chr17_48887787_48900871	48899067	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00423.hp2 others(30): Show HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00735.hp1 HG01106.hp2 HG01175.hp1 HG01256.hp2 HG01258.hp1 HG01358.hp2 HG01884.hp2 HG02004.hp2 HG02040.hp1 HG02129.hp1 HG02135.hp2 HG02486.hp1 HG02572.hp2 HG02647.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03516.hp2 HG03579.hp2 HG04184.hp1 NA18522.hp1 NA18951.hp2 NA18952.hp1 NA18978.hp2 NA18990.hp2 NA18999.hp1 NA19066.hp2 NA19084.hp2 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0003g0003 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0003g0003	33	334	0.0988	16	c.32 others(27): Show c.3298_*3299insAAAAAAAAAAAAAAAA	ATP5MC1	ENSG00000159199.14	transcript	ENST00000393366.7	protein_coding		3197		chr17	TogoVar
ATP5MC2_chr12_53660170_53681083	53664344	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG01167.hp1 others(6): Show HG00280.hp2 HG00438.hp1 HG01167.hp1 HG03492.hp1 HG03927.hp1 NA18957.hp1 NA18999.hp2 NA19007.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0027 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0243	9	418	0.0215	16	c.95 others(25): Show c.954_*969dupATTTATTTATTTATTT	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding		825		chr12	TogoVar
ATP5MC2_chr12_53660170_53681083	53667956	C C	CACATATA others(9): Show CACATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA19004.hp2 NA19064.hp1 others(1): Show NA18954.hp1 NA19004.hp2 NA19064.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0244 a0001c0001t0001g0023 a0001c0001t0001g0244	4	418	0.0096	16	c.311 others(33): Show c.311+1191_311+1192insATATATATATATATGT	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	4/4			chr12	TogoVar
ATP5MC2_chr12_53660170_53681083	53672083	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00642.hp2 HG01255.hp1 others(15): Show HG00609.hp2 HG00642.hp2 HG01255.hp1 HG01358.hp2 HG01496.hp2 HG01934.hp1 HG01993.hp2 HG02015.hp2 HG02300.hp2 HG02559.hp2 HG03130.hp2 NA18962.hp2 NA18973.hp1 NA18981.hp2 NA18984.hp2 NA18998.hp2 NA19063.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0104 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0114	18	418	0.0431	16	c.39+ others(29): Show c.39+477_39+492dupTTTTTTTTTTTTTTTT	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	2/4			chr12	TogoVar
ATP5MC2_chr12_53660170_53681083	53673319	A A	AAAACAAA others(9): Show AAAACAAACAAACAAAC	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18906.hp1 HG03209.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0157 a0001c0001t0001g0122 a0001c0001t0001g0157	2	418	0.0048	16	c.-31 others(31): Show c.-31-690_-31-675dupGTTTGTTTGTTTGTTT	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	1/4			chr12	TogoVar
ATP5MC2_chr12_53660170_53681083	53679238	C C	CGAGAGAG others(9): Show CGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 NA19004.hp2 NA19064.hp1 others(1): Show HG02970.hp2 NA19004.hp2 NA19064.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0003t0001g0126 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0003t0001g0126	4	418	0.0096	16	c.-32 others(27): Show c.-3218_-3217insTCTCTCTCTCTCTCTC	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding		3156		chr12	TogoVar
ATP5ME_chr4_667436_679276	669110	C C	CTATTCCC others(9): Show CTATTCCCGCTATGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02622.hp1 HG01891.hp2 HG02109.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	3	394	0.0076	16	c.33 others(27): Show c.3389_*3390insTGGCATAGCGGGAATA	ATP5ME	ENSG00000169020.10	transcript	ENST00000304312.5	protein_coding		3325		chr4	TogoVar
ATP5MGL_chr22_42634803_42645601	42638728	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02145.hp2 HG02280.hp1 others(3): Show HG01243.hp2 HG02145.hp2 HG02280.hp1 HG02922.hp1 HG02976.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0002t0011	a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0007g0000 others(1): Show a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0007g0000 a0001c0002t0011g0000	6	374	0.0160	16	c.12 others(27): Show c.1228_*1243dupTTTTTTTTTTTTTTTT	ATP5MGL	ENSG00000249222.1	transcript	ENST00000505920.1	protein_coding		1074		chr22	TogoVar
ATP5MJ_chr14_103907288_103926529	103908190	G G	GAAAAAAA others(9): Show GAAAAAAAAAAAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01891.hp1 HG03139.hp2 others(3): Show HG01081.hp1 HG01891.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp2 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0013 a0002c0002t0001g0105 a0002c0002t0001g0106	6	440	0.0136	16	c.44 others(27): Show c.4475_*4476insTTCTTTTTTTTTTTTT	ATP5MJ	ENSG00000156411.10	transcript	ENST00000286953.8	protein_coding		4097		chr14	TogoVar
ATP5MJ_chr14_103907288_103926529	103914837	C C	CAAAAAGG others(9): Show CAAAAAGGAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01943.hp1 HG02293.hp1 others(4): Show HG00738.hp2 HG01943.hp1 HG02293.hp1 HG02300.hp1 NA18984.hp1 NA19054.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0028 a0001c0001t0002g0052 a0001c0001t0002g0016 a0001c0001t0002g0028 a0001c0001t0002g0052	7	440	0.0159	16	c.124 others(31): Show c.124+228_124+229insTTTTTTTTTCCTTTTT	ATP5MJ	ENSG00000156411.10	transcript	ENST00000286953.8	protein_coding	2/3			chr14	TogoVar
ATP5MJ_chr14_103907288_103926529	103914849	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00642.hp1 HG00642.hp2 others(82): Show HG00544.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp2 HG02273.hp2 HG02735.hp1 HG02735.hp2 HG03017.hp1 HG03130.hp2 HG03239.hp1 HG03492.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04204.hp1 NA18941.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18966.hp2 NA18968.hp2 NA18971.hp2 NA18972.hp1 NA18979.hp2 NA18980.hp2 NA18985.hp2 NA18986.hp1 NA18991.hp1 NA18992.hp2 NA18998.hp1 NA19011.hp1 NA19055.hp2 NA19056.hp2 NA19058.hp1 NA19064.hp2 NA19076.hp2 NA19078.hp2 NA19084.hp1 NA19088.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(25): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0005g0044	85	440	0.1932	16	c.124 others(31): Show c.124+216_124+217insCTTTTTTTTTTTTTTT	ATP5MJ	ENSG00000156411.10	transcript	ENST00000286953.8	protein_coding	2/3			chr14	TogoVar
ATP5MJ_chr14_103907288_103926529	103925043	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01978.hp1 NA19070.hp2 others(1): Show HG01069.hp2 HG01978.hp1 NA19070.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0015 a0002c0002t0001g0043 a0002c0002t0001g0181 a0002c0002t0001g0015 a0002c0002t0001g0043 a0002c0002t0001g0181	4	440	0.0091	16	c.-35 others(27): Show c.-3590_-3575dupAAAAAAAAAAAAAAAA	ATP5MJ	ENSG00000156411.10	transcript	ENST00000286953.8	protein_coding		3515		chr14	TogoVar
ATP5PB_chr1_111444464_111467773	111457312	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02896.hp1 NA19043.hp2 HG02896.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0002t0004 a0001c0001t0012 a0001c0002t0004	a0001c0001t0012g0117 a0001c0002t0004g0052 a0001c0001t0012g0117 a0001c0002t0004g0052	2	434	0.0046	16	c.513 others(31): Show c.513+571_513+586dupCACACACACACACACA	ATP5PB	ENSG00000116459.11	transcript	ENST00000369722.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP5PF_chr21_25719500_25739904	25730736	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	416	0.0024	16	c.-7- others(29): Show c.-7-951_-7-936dupTTTTTTTTTTTTTTTT	ATP5PF	ENSG00000154723.13	transcript	ENST00000284971.8	protein_coding	1/3			chr21	TogoVar
ATP6V0A2_chr12_123707353_123766755	123712053	T T	TCACACAC others(9): Show TCACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0153 a0004c0008t0002g0153	1	222	0.0045	16	c.-51 others(25): Show c.-513_-512insCACACACACACACACA	ATP6V0A2	ENSG00000185344.15	transcript	ENST00000330342.8	protein_coding		299		chr12	TogoVar
ATP6V0A2_chr12_123707353_123766755	123712055	T T	TCACACAC others(9): Show TCACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01255.hp1 HG01358.hp2 others(4): Show HG00738.hp2 HG01255.hp1 HG01358.hp2 HG02027.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0002 a0001c0002t0002 a0001c0003t0002	a0001c0002t0002g0004 a0001c0002t0002g0013 a0001c0002t0002g0015 others(3): Show a0001c0002t0002g0004 a0001c0002t0002g0013 a0001c0002t0002g0015 a0001c0002t0002g0158 a0001c0002t0002g0169 a0001c0003t0002g0177	7	222	0.0315	16	c.-51 others(25): Show c.-511_-510insCACACACACACACACA	ATP6V0A2	ENSG00000185344.15	transcript	ENST00000330342.8	protein_coding		297		chr12	TogoVar
ATP6V0A2_chr12_123707353_123766755	123712059	T T	TCACACAC others(9): Show TCACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0129 a0001c0003t0010g0129	1	222	0.0045	16	c.-50 others(25): Show c.-507_-506insCACACACACACACACA	ATP6V0A2	ENSG00000185344.15	transcript	ENST00000330342.8	protein_coding		293		chr12	TogoVar
ATP6V0A2_chr12_123707353_123766755	123712076	C C	CACACACA others(9): Show CACACACACACACACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02818.hp2 NA18522.hp1 others(2): Show HG01243.hp2 HG02818.hp2 NA18522.hp1 NA19030.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0012 a0001c0003t0004g0141 a0001c0003t0004g0142 others(1): Show a0001c0003t0004g0012 a0001c0003t0004g0141 a0001c0003t0004g0142 a0001c0003t0004g0143	5	222	0.0225	16	c.-49 others(25): Show c.-490_-489insACACACACACACACAT	ATP6V0A2	ENSG00000185344.15	transcript	ENST00000330342.8	protein_coding		276		chr12	TogoVar
ATP6V0A2_chr12_123707353_123766755	123729322	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp2 HG02486.hp2 others(6): Show HG02109.hp2 HG02145.hp2 HG02486.hp2 HG02717.hp1 HG02897.hp2 HG02922.hp2 HG03139.hp1 HG03831.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0090 a0001c0001t0003g0035 a0001c0001t0003g0037 others(6): Show a0001c0001t0001g0090 a0001c0001t0003g0035 a0001c0001t0003g0037 a0001c0001t0003g0047 a0001c0001t0003g0050 a0001c0001t0004g0134 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0140	9	222	0.0405	16	c.648 others(33): Show c.648+1424_648+1425insTTTTTTTTTTTTTTTT	ATP6V0A2	ENSG00000185344.15	transcript	ENST00000330342.8	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
ATP6V0A2_chr12_123707353_123766755	123765564	T T	TTATCTAT others(9): Show TTATCTATCTATCTATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG01109.hp1 others(11): Show HG00544.hp1 HG00544.hp2 HG01109.hp1 HG01256.hp1 HG01361.hp2 HG01981.hp2 HG02165.hp1 HG02970.hp1 HG04199.hp1 HG04228.hp2 NA18612.hp1 NA19060.hp2 NA19240.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0008 a0001c0001t0028 others(3): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0028 a0001c0001t0030 a0001c0002t0002 a0001c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0010 others(10): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0095 a0001c0001t0008g0001 a0001c0001t0028g0060 a0001c0001t0030g0043 a0001c0002t0002g0161 a0001c0003t0001g0187	14	222	0.0631	16	c.75 others(27): Show c.7532_*7533insTATCTATCTATCTATC	ATP6V0A2	ENSG00000185344.15	transcript	ENST00000330342.8	protein_coding		3810		chr12	TogoVar
ATP6V0A2_chr12_123707353_123766755	123766287	G G	GCCTACCT others(9): Show GCCTACCTACCTACCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01346.hp1 HG01975.hp1 others(16): Show HG01099.hp2 HG01346.hp1 HG01975.hp1 HG01978.hp2 HG02027.hp1 HG02055.hp1 HG02148.hp1 HG02451.hp1 HG02630.hp1 HG02647.hp1 HG02886.hp2 HG02965.hp1 HG03098.hp1 HG03486.hp1 NA18906.hp1 NA18960.hp1 NA18979.hp2 NA19043.hp1 NA19240.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0004 a0010c0012	a0001c0001t0001 a0001c0001t0017 a0001c0002t0002 others(6): Show a0001c0001t0001 a0001c0001t0017 a0001c0002t0002 a0001c0002t0015 a0001c0003t0002 a0001c0005t0012 a0002c0004t0006 a0002c0004t0007 a0010c0012t0020	a0001c0001t0001g0099 a0001c0001t0017g0183 a0001c0002t0002g0015 others(13): Show a0001c0001t0001g0099 a0001c0001t0017g0183 a0001c0002t0002g0015 a0001c0002t0015g0157 a0001c0003t0002g0177 a0001c0005t0012g0118 a0001c0005t0012g0119 a0001c0005t0012g0120 a0002c0004t0006g0005 a0002c0004t0006g0017 a0002c0004t0006g0186 a0002c0004t0006g0191 a0002c0004t0007g0178 a0002c0004t0007g0181 a0002c0004t0007g0182 a0010c0012t0020g0086	19	222	0.0856	16	c.82 others(27): Show c.8255_*8256insCCTACCTACCTACCTA	ATP6V0A2	ENSG00000185344.15	transcript	ENST00000330342.8	protein_coding		4533		chr12	TogoVar
ATP6V0A4_chr7_138701294_138803196	138707066	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0123 a0001c0005t0001g0123	1	376	0.0027	16	c.243 others(33): Show c.2430-350_2430-349insCACACACACACACACA	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	21/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138707068	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00438.hp2 others(35): Show HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00733.hp1 HG01106.hp2 HG01168.hp2 HG01358.hp1 HG02040.hp2 HG02074.hp1 HG02129.hp2 HG02451.hp1 HG02896.hp1 HG03098.hp1 HG04115.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp2 NA18952.hp1 NA18965.hp1 NA18968.hp1 NA18973.hp1 NA18986.hp1 NA18989.hp1 NA18999.hp2 NA19010.hp1 NA19060.hp2 NA19066.hp1 NA19076.hp2 NA19082.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0001c0005 a0001c0007 others(9): Show a0001c0001 a0001c0005 a0001c0007 a0001c0008 a0001c0010 a0002c0002 a0002c0003 a0002c0025 a0002c0046 a0003c0004 a0004c0018 a0007c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0005t0002 a0001c0005t0005 a0001c0007t0001 a0001c0007t0002 a0001c0008t0001 a0001c0010t0002 a0002c0002t0001 a0002c0002t0002 a0002c0003t0002 a0002c0025t0001 a0002c0046t0001 a0003c0004t0011 a0004c0018t0002 a0007c0026t0001	a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0090 others(35): Show a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0090 a0001c0001t0001g0126 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0173 a0001c0001t0001g0180 a0001c0001t0001g0255 a0001c0001t0001g0265 a0001c0001t0001g0290 a0001c0001t0001g0330 a0001c0001t0001g0337 a0001c0001t0002g0187 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0241 a0001c0001t0002g0297 a0001c0001t0010g0242 a0001c0005t0002g0359 a0001c0005t0005g0067 a0001c0007t0001g0055 a0001c0007t0002g0137 a0001c0008t0001g0234 a0001c0010t0002g0362 a0002c0002t0001g0050 a0002c0002t0001g0076 a0002c0002t0001g0307 a0002c0002t0002g0082 a0002c0002t0002g0191 a0002c0003t0002g0065 a0002c0025t0001g0205 a0002c0025t0001g0286 a0002c0046t0001g0367 a0003c0004t0011g0371 a0004c0018t0002g0096 a0007c0026t0001g0003 a0007c0026t0001g0013	38	376	0.1011	16	c.243 others(33): Show c.2430-367_2430-352dupCACACACACACACACA	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	21/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138718201	G G	GGTGTGTG others(9): Show GGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	376	0.0027	16	c.214 others(35): Show c.2140-2336_2140-2321dupACACACACACACACAC	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	19/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138737115	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0001 a0001c0029t0001	a0001c0029t0001g0110 a0001c0029t0001g0110	1	376	0.0027	16	c.157 others(35): Show c.1572+2424_1572+2425insATATATATATATATAT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	15/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138745658	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01891.hp2 HG02132.hp1 others(10): Show HG01169.hp1 HG01891.hp2 HG02132.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03540.hp1 NA18942.hp2 NA18945.hp2 NA18952.hp1 NA18957.hp1 NA18983.hp1 NA18983.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0007 a0008	a0001c0007 a0001c0013 a0002c0003 others(8): Show a0001c0007 a0001c0013 a0002c0003 a0002c0012 a0002c0016 a0002c0049 a0004c0011 a0005c0006 a0007c0017 a0007c0026 a0008c0024	a0001c0007t0001 a0001c0013t0001 a0002c0003t0001 others(9): Show a0001c0007t0001 a0001c0013t0001 a0002c0003t0001 a0002c0012t0004 a0002c0016t0001 a0002c0049t0006 a0004c0011t0001 a0005c0006t0001 a0007c0017t0001 a0007c0017t0002 a0007c0026t0001 a0008c0024t0002	a0001c0007t0001g0333 a0001c0013t0001g0181 a0002c0003t0001g0190 others(10): Show a0001c0007t0001g0333 a0001c0013t0001g0181 a0002c0003t0001g0190 a0002c0012t0004g0346 a0002c0016t0001g0284 a0002c0049t0006g0044 a0004c0011t0001g0163 a0005c0006t0001g0015 a0005c0006t0001g0276 a0007c0017t0001g0311 a0007c0017t0002g0323 a0007c0026t0001g0013 a0008c0024t0002g0325	13	376	0.0346	16	c.132 others(33): Show c.1321-379_1321-378insTTTTTTTTTTTTTTTT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	13/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138746005	T T	TATATATT others(9): Show TATATATTTATAATATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp2 HG02647.hp1 others(3): Show HG02109.hp2 HG02451.hp2 HG02647.hp1 HG02717.hp2 HG02922.hp2 HG06807.hp1	a0001 a0001	a0001c0005 a0001c0013 a0001c0035 a0001c0005 a0001c0013 a0001c0035	a0001c0005t0002 a0001c0005t0004 a0001c0013t0001 others(1): Show a0001c0005t0002 a0001c0005t0004 a0001c0013t0001 a0001c0035t0001	a0001c0005t0002g0043 a0001c0005t0004g0177 a0001c0013t0001g0103 others(3): Show a0001c0005t0002g0043 a0001c0005t0004g0177 a0001c0013t0001g0103 a0001c0013t0001g0206 a0001c0013t0001g0366 a0001c0035t0001g0025	6	376	0.0160	16	c.132 others(33): Show c.1321-726_1321-725insTATATTATAAATATAT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	13/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138777633	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18522.hp1 HG02486.hp1 NA18522.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0197 a0001c0010t0002g0198 a0001c0010t0002g0197 a0001c0010t0002g0198	2	376	0.0053	16	c.-17 others(33): Show c.-17-6385_-17-6370dupGTGTGTGTGTGTGTGT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	2/21			chr7	TogoVar
ATP6V0D2_chr8_86093910_86159225	86104850	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00597.hp2 others(58): Show HG00099.hp1 HG00438.hp2 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01106.hp1 HG01175.hp2 HG01243.hp1 HG01258.hp1 HG01515.hp2 HG01943.hp2 HG02040.hp1 HG02165.hp1 HG02165.hp2 HG02300.hp1 HG02602.hp1 HG02683.hp2 HG02735.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04204.hp2 NA18942.hp2 NA18945.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18960.hp2 NA18961.hp1 NA18971.hp2 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18995.hp1 NA19000.hp1 NA19001.hp1 NA19011.hp1 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19076.hp1 NA19077.hp1 NA19084.hp2 NA19088.hp2 NA19091.hp1 NA20752.hp2 NA20905.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0006c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(57): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0002g0056 a0001c0001t0006g0109 a0006c0008t0001g0047	61	360	0.1694	16	c.130 others(33): Show c.130+5756_130+5771dupCACACACACACACACA	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V0D2_chr8_86093910_86159225	86126236	C C	CTATATAT others(9): Show CTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01981.hp1 HG01993.hp1 others(14): Show HG00408.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp2 HG02056.hp1 HG02273.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03654.hp2 HG03834.hp2 NA18951.hp2 NA18995.hp2 NA19000.hp2 NA19005.hp1 NA19082.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0037 a0001c0001t0001g0136 a0001c0001t0001g0183 others(14): Show a0001c0001t0001g0037 a0001c0001t0001g0136 a0001c0001t0001g0183 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0269 a0001c0001t0001g0331 a0001c0001t0003g0167 a0001c0001t0003g0199 a0001c0001t0003g0211 a0001c0001t0003g0213 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0268 a0001c0001t0003g0270	17	360	0.0472	16	c.302 others(35): Show c.302+12368_302+12383dupATATATATATATATAT	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V0D2_chr8_86093910_86159225	86145195	A A	AAAAGAAA others(9): Show AAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA19081.hp2 HG00597.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0240 a0001c0001t0002g0247 a0001c0001t0002g0240 a0001c0001t0002g0247	2	360	0.0056	16	c.639 others(33): Show c.639+2267_639+2282dupAAGAAAGAAAGAAAGA	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V0D2_chr8_86093910_86159225	86145233	A A	AAGAAAGA others(9): Show AAGAAAGAAAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0258 a0001c0001t0002g0258	1	360	0.0028	16	c.639 others(33): Show c.639+2282_639+2283insAAGAAAGAGAGAGAGA	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V1B1_chr2_70930900_70970431	70945701	G G	GAGATATA others(9): Show GAGATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0268 a0002c0006t0001g0268	1	440	0.0023	16	c.174 others(33): Show c.174+1989_174+1990insGATATATATATATATA	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1B1_chr2_70930900_70970431	70964114	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03516.hp1 HG03209.hp1 HG03516.hp1	a0002 a0002	a0002c0006 a0002c0012 a0002c0006 a0002c0012	a0002c0006t0001 a0002c0012t0005 a0002c0006t0001 a0002c0012t0005	a0002c0006t0001g0272 a0002c0012t0005g0351 a0002c0006t0001g0272 a0002c0012t0005g0351	2	440	0.0046	16	c.114 others(33): Show c.1144-317_1144-302dupTTTTTTTTTTTTTTTT	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1B1_chr2_70930900_70970431	70965548	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02818.hp2 others(5): Show HG01891.hp1 HG02055.hp1 HG02818.hp2 HG02886.hp1 HG02970.hp1 HG03453.hp2 HG03579.hp2 HG04115.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0009	a0001c0001 a0001c0007 a0002c0013 others(3): Show a0001c0001 a0001c0007 a0002c0013 a0003c0004 a0004c0014 a0009c0028	a0001c0001t0001 a0001c0001t0006 a0001c0007t0001 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0007t0001 a0002c0013t0002 a0003c0004t0001 a0004c0014t0002 a0009c0028t0001	a0001c0001t0001g0024 a0001c0001t0001g0145 a0001c0001t0006g0396 others(5): Show a0001c0001t0001g0024 a0001c0001t0001g0145 a0001c0001t0006g0396 a0001c0007t0001g0177 a0002c0013t0002g0390 a0003c0004t0001g0246 a0004c0014t0002g0020 a0009c0028t0001g0342	8	440	0.0182	16	c.42 others(25): Show c.427_*428insAAAAAAAAAAAAAAAA	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding		118		chr2	TogoVar
ATP6V1C1_chr8_103016083_103078051	103047430	G G	GCGCACAC others(9): Show GCGCACACACACACACA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0271 a0001c0001t0025g0271	1	412	0.0024	16	c.201 others(33): Show c.201-1439_201-1438insGCACACACACACACAC	ATP6V1C1	ENSG00000155097.12	transcript	ENST00000518738.2	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V1C2_chr2_10716630_10790110	10772836	G G	GGCTGCCC others(9): Show GGCTGCCCTGGCCCCAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00544.hp1 others(135): Show HG00323.hp2 HG00408.hp1 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01981.hp1 HG01981.hp2 HG02040.hp2 HG02055.hp2 HG02074.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG06807.hp2 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18949.hp1 NA18950.hp2 NA18955.hp1 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18990.hp1 NA18999.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19077.hp1 NA19079.hp2 NA19081.hp1 NA19084.hp2 NA19085.hp1 NA19090.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0002c0002 others(7): Show a0001c0001 a0001c0006 a0002c0002 a0002c0003 a0002c0004 a0002c0005 a0002c0009 a0002c0013 a0002c0018 a0003c0008	a0001c0001t0002 a0001c0001t0013 a0001c0006t0005 others(19): Show a0001c0001t0002 a0001c0001t0013 a0001c0006t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0007 a0002c0002t0008 a0002c0002t0015 a0002c0002t0018 a0002c0002t0019 a0002c0003t0002 a0002c0003t0004 a0002c0003t0012 a0002c0004t0005 a0002c0005t0001 a0002c0005t0008 a0002c0009t0004 a0002c0009t0022 a0002c0013t0001 a0002c0018t0013 a0003c0008t0003	a0001c0001t0002g0322 a0001c0001t0002g0330 a0001c0001t0013g0075 others(135): Show a0001c0001t0002g0322 a0001c0001t0002g0330 a0001c0001t0013g0075 a0001c0006t0005g0042 a0001c0006t0005g0308 a0001c0006t0005g0337 a0002c0002t0001g0005 a0002c0002t0001g0035 a0002c0002t0001g0051 a0002c0002t0001g0062 a0002c0002t0001g0066 a0002c0002t0001g0069 a0002c0002t0001g0073 a0002c0002t0001g0080 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0111 a0002c0002t0001g0130 a0002c0002t0001g0138 a0002c0002t0001g0141 a0002c0002t0001g0150 a0002c0002t0001g0161 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0184 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0226 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0271 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0281 a0002c0002t0001g0284 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0292 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0300 a0002c0002t0001g0302 a0002c0002t0001g0306 a0002c0002t0001g0313 a0002c0002t0001g0319 a0002c0002t0001g0328 a0002c0002t0001g0331 a0002c0002t0001g0332 a0002c0002t0001g0333 a0002c0002t0001g0334 a0002c0002t0001g0339 a0002c0002t0001g0341 a0002c0002t0001g0343 a0002c0002t0001g0345 a0002c0002t0002g0011 a0002c0002t0002g0019 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0027 a0002c0002t0002g0031 a0002c0002t0002g0039 a0002c0002t0002g0098 a0002c0002t0002g0124 a0002c0002t0002g0133 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0280 a0002c0002t0002g0304 a0002c0002t0002g0311 a0002c0002t0002g0314 a0002c0002t0002g0315 a0002c0002t0002g0317 a0002c0002t0002g0321 a0002c0002t0002g0329 a0002c0002t0002g0342 a0002c0002t0002g0351 a0002c0002t0004g0123 a0002c0002t0004g0214 a0002c0002t0004g0238 a0002c0002t0004g0239 a0002c0002t0007g0106 a0002c0002t0007g0223 a0002c0002t0007g0232 a0002c0002t0008g0242 a0002c0002t0015g0221 a0002c0002t0018g0078 a0002c0002t0019g0049 a0002c0003t0002g0009 a0002c0003t0002g0063 a0002c0003t0002g0068 a0002c0003t0002g0082 a0002c0003t0002g0084 a0002c0003t0002g0086 a0002c0003t0002g0093 a0002c0003t0002g0118 a0002c0003t0002g0121 a0002c0003t0002g0126 a0002c0003t0002g0127 a0002c0003t0002g0129 a0002c0003t0002g0142 a0002c0003t0002g0148 a0002c0003t0002g0273 a0002c0003t0002g0277 a0002c0003t0002g0312 a0002c0003t0004g0058 a0002c0003t0004g0074 a0002c0003t0004g0077 a0002c0003t0004g0125 a0002c0003t0004g0135 a0002c0003t0004g0152 a0002c0003t0012g0160 a0002c0003t0012g0230 a0002c0004t0005g0045 a0002c0004t0005g0046 a0002c0004t0005g0085 a0002c0004t0005g0095 a0002c0004t0005g0109 a0002c0004t0005g0137 a0002c0004t0005g0140 a0002c0004t0005g0143 a0002c0004t0005g0162 a0002c0004t0005g0177 a0002c0004t0005g0285 a0002c0004t0005g0327 a0002c0005t0001g0116 a0002c0005t0008g0158 a0002c0009t0004g0157 a0002c0009t0022g0155 a0002c0013t0001g0139 a0002c0018t0013g0217 a0003c0008t0003g0122 a0003c0008t0003g0146	138	354	0.3898	16	c.638 others(31): Show c.638+227_638+242dupGCTGCCCTGGCCCCAC	ATP6V1C2	ENSG00000143882.12	transcript	ENST00000272238.9	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1C2_chr2_10716630_10790110	10788065	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01192.hp1 HG01069.hp2 HG01071.hp2 HG01192.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0009 a0002c0007t0009	a0002c0007t0009g0028 a0002c0007t0009g0029 a0002c0007t0009g0151 a0002c0007t0009g0028 a0002c0007t0009g0029 a0002c0007t0009g0151	3	354	0.0085	16	c.48 others(27): Show c.4802_*4803insAAAAAAAAAAAAAAAA	ATP6V1C2	ENSG00000143882.12	transcript	ENST00000272238.9	protein_coding		2956		chr2	TogoVar
ATP6V1E1_chr22_17587136_17633749	17596132	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp2 HG02622.hp2 others(2): Show HG01243.hp2 HG02258.hp2 HG02622.hp2 HG03139.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0009 a0001c0002t0006 a0001c0002t0009	a0001c0002t0006g0042 a0001c0002t0006g0043 a0001c0002t0006g0044 others(2): Show a0001c0002t0006g0042 a0001c0002t0006g0043 a0001c0002t0006g0044 a0001c0002t0006g0046 a0001c0002t0009g0285	5	370	0.0135	16	c.531 others(33): Show c.531-1532_531-1517dupATTTATTTATTTATTT	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding	7/8			chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17629818	T T	TACACACA others(9): Show TACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0226 a0001c0001t0003g0226	1	370	0.0027	16	c.-11 others(27): Show c.-1199_-1184dupGTGTGTGTGTGTGTGT	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		1070		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631670	G G	GTATATAT others(9): Show GTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	370	0.0027	16	c.-30 others(27): Show c.-3051_-3036dupTATATATATATATATA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2922		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631670	G G	GTGTATAT others(9): Show GTGTATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp1 NA21309.hp1 NA18998.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0094 a0001c0001t0001g0003 a0001c0001t0001g0094	2	370	0.0054	16	c.-30 others(27): Show c.-3036_-3035insTATATATATATATACA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2922		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631670	G G	GTGTGTAT others(9): Show GTGTGTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	370	0.0027	16	c.-30 others(27): Show c.-3036_-3035insTATATATATATACACA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2922		chr22	TogoVar

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