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
ATP5MC2_chr12_53660170_53681083	53667956	C C	CACATATA others(13): Show CACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01256.hp2 HG01258.hp2 others(6): Show HG00438.hp2 HG01256.hp2 HG01258.hp2 HG02040.hp2 HG02523.hp2 HG02735.hp1 HG03486.hp2 NA18980.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0059 a0001c0001t0001g0160 others(2): Show a0001c0001t0001g0017 a0001c0001t0001g0059 a0001c0001t0001g0160 a0001c0001t0001g0179 a0001c0001t0001g0195	9	418	0.0215	20	c.311 others(37): Show c.311+1191_311+1192insATATATATATATATATATGT	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	4/4			chr12	TogoVar
ATP5MC2_chr12_53660170_53681083	53667956	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	418	0.0024	20	c.311 others(37): Show c.311+1172_311+1191dupATATATATATATATATATAT	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	4/4			chr12	TogoVar
ATP5MC2_chr12_53660170_53681083	53672083	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01433.hp2 HG01943.hp1 others(11): Show HG01261.hp1 HG01433.hp2 HG01943.hp1 HG01993.hp1 HG02055.hp1 HG02135.hp1 HG02148.hp2 HG02300.hp1 HG02486.hp1 NA18962.hp1 NA18973.hp2 NA19067.hp2 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0037 a0001c0001t0001g0073 others(3): Show a0001c0001t0001g0005 a0001c0001t0001g0037 a0001c0001t0001g0073 a0001c0001t0001g0101 a0001c0001t0001g0110 a0001c0001t0001g0245	14	418	0.0335	20	c.39+ others(33): Show c.39+473_39+492dupTTTTTTTTTTTTTTTTTTTT	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	2/4			chr12	TogoVar
ATP5MC2_chr12_53660170_53681083	53679238	C C	CGAGAGAG others(13): Show CGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02572.hp2 HG02647.hp2 others(3): Show HG02040.hp2 HG02572.hp2 HG02647.hp2 HG02809.hp1 HG02976.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0123 a0001c0001t0001g0125 others(2): Show a0001c0001t0001g0016 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0179	6	418	0.0144	20	c.-32 others(31): Show c.-3218_-3217insTCTCTCTCTCTCTCTCTCTC	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding		3156		chr12	TogoVar
ATP5ME_chr4_667436_679276	669099	C C	CACTACTC others(13): Show CACTACTCCATGCTGCTGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	394	0.0025	20	c.34 others(31): Show c.3400_*3401insTGGCAGCAGCATGGAGTAGT	ATP5ME	ENSG00000169020.10	transcript	ENST00000304312.5	protein_coding		3336		chr4	TogoVar
ATP5ME_chr4_667436_679276	675978	G G	GTAGGGCC others(13): Show GTAGGGCCACCTGATCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	394	0.0025	20	c.-17 others(31): Show c.-1751_-1732dupGAAAAGATCAGGTGGCCCTA	ATP5ME	ENSG00000169020.10	transcript	ENST00000304312.5	protein_coding		1703		chr4	TogoVar
ATP5MGL_chr22_42634803_42645601	42638728	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00639.hp2 HG00735.hp2 others(31): Show HG00423.hp2 HG00639.hp2 HG00735.hp2 HG00738.hp1 HG01109.hp2 HG01123.hp1 HG01496.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02074.hp1 HG02080.hp1 HG02155.hp2 HG02257.hp2 HG02273.hp2 HG02293.hp2 HG02683.hp1 HG03540.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 NA18943.hp2 NA18945.hp1 NA18950.hp1 NA18953.hp1 NA18982.hp2 NA19004.hp1 NA19060.hp2 NA19074.hp2 NA19087.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0005t0002	a0001c0001t0002g0000 a0001c0001t0005g0000 a0001c0001t0006g0000 others(3): Show a0001c0001t0002g0000 a0001c0001t0005g0000 a0001c0001t0006g0000 a0001c0001t0007g0000 a0001c0001t0009g0000 a0001c0005t0002g0000	34	374	0.0909	20	c.12 others(31): Show c.1224_*1243dupTTTTTTTTTTTTTTTTTTTT	ATP5MGL	ENSG00000249222.1	transcript	ENST00000505920.1	protein_coding		1074		chr22	TogoVar
ATP5MG_chr11_118396606_118414847	118408931	A A	ATATATAT others(13): Show ATATATATATATATATATAAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0036 a0001c0001t0007g0036	1	336	0.0030	20	c.214 others(33): Show c.214-54_214-35dupTATAATTATATATATATATA	ATP5MG	ENSG00000167283.9	transcript	ENST00000300688.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
ATP5MJ_chr14_103907288_103926529	103914837	C C	CAAAAAGG others(13): Show CAAAAAGGAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	440	0.0023	20	c.124 others(35): Show c.124+228_124+229insTTTTTTTTTTTTTCCTTTTT	ATP5MJ	ENSG00000156411.10	transcript	ENST00000286953.8	protein_coding	2/3			chr14	TogoVar
ATP5PB_chr1_111444464_111467773	111457312	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02965.hp2 HG02970.hp1 others(3): Show HG02895.hp1 HG02965.hp2 HG02970.hp1 HG03209.hp2 HG03486.hp1 HG06807.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0009 a0001c0002 a0004c0009	a0001c0002t0004 a0004c0009t0004 a0001c0002t0004 a0004c0009t0004	a0001c0002t0004g0010 a0004c0009t0004g0010 a0001c0002t0004g0010 a0004c0009t0004g0010	6	434	0.0138	20	c.513 others(35): Show c.513+567_513+586dupCACACACACACACACACACA	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(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	416	0.0024	20	c.-7- others(33): Show c.-7-955_-7-936dupTTTTTTTTTTTTTTTTTTTT	ATP5PF	ENSG00000154723.13	transcript	ENST00000284971.8	protein_coding	1/3			chr21	TogoVar
ATP6V0A2_chr12_123707353_123766755	123712055	T T	TCACACAC others(13): Show TCACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG02965.hp1 HG03942.hp1 others(3): Show HG01074.hp1 HG02965.hp1 HG03942.hp1 HG04204.hp2 NA18960.hp1 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0002 a0001c0002t0015 a0002c0004t0007 a0001c0002t0002 a0001c0002t0015 a0002c0004t0007	a0001c0002t0002g0149 a0001c0002t0002g0159 a0001c0002t0002g0170 others(3): Show a0001c0002t0002g0149 a0001c0002t0002g0159 a0001c0002t0002g0170 a0001c0002t0015g0155 a0001c0002t0015g0157 a0002c0004t0007g0178	6	222	0.0270	20	c.-51 others(29): Show c.-511_-510insCACACACACACACACACACA	ATP6V0A2	ENSG00000185344.15	transcript	ENST00000330342.8	protein_coding		297		chr12	TogoVar
ATP6V0A2_chr12_123707353_123766755	123765564	T T	TTATCTAT others(13): Show TTATCTATCTATCTATCTATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02717.hp2 NA18971.hp2 HG02080.hp1 HG02717.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0052 a0001c0001t0001g0096 a0001c0001t0001g0020 a0001c0001t0001g0052 a0001c0001t0001g0096	3	222	0.0135	20	c.75 others(31): Show c.7532_*7533insTATCTATCTATCTATCTATC	ATP6V0A2	ENSG00000185344.15	transcript	ENST00000330342.8	protein_coding		3810		chr12	TogoVar
ATP6V0A2_chr12_123707353_123766755	123766287	G G	GCCTACCT others(13): Show GCCTACCTACCTACCTACCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02559.hp1 HG02486.hp1 HG02559.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0179 a0002c0004t0007g0180 a0002c0004t0007g0179 a0002c0004t0007g0180	2	222	0.0090	20	c.82 others(31): Show c.8255_*8256insCCTACCTACCTACCTACCTA	ATP6V0A2	ENSG00000185344.15	transcript	ENST00000330342.8	protein_coding		4533		chr12	TogoVar
ATP6V0A4_chr7_138701294_138803196	138707068	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00639.hp2 HG00738.hp2 others(45): Show HG00609.hp2 HG00639.hp2 HG00738.hp2 HG01069.hp1 HG01167.hp1 HG01192.hp2 HG01346.hp1 HG01496.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02129.hp1 HG02523.hp2 HG02615.hp1 HG02630.hp2 HG02717.hp1 HG02922.hp2 HG03139.hp1 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG03710.hp2 HG04204.hp1 NA18945.hp1 NA18948.hp2 NA18957.hp2 NA18962.hp1 NA18965.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18977.hp2 NA18980.hp1 NA18985.hp1 NA18990.hp1 NA19000.hp1 NA19006.hp1 NA19056.hp2 NA19065.hp1 NA19068.hp1 NA19074.hp1 NA19079.hp1 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0012 a0015	a0001c0001 a0001c0005 a0001c0014 others(11): Show a0001c0001 a0001c0005 a0001c0014 a0002c0002 a0002c0003 a0002c0012 a0002c0019 a0003c0004 a0003c0033 a0004c0015 a0004c0040 a0004c0041 a0012c0039 a0015c0045	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0005t0004 a0001c0014t0001 a0001c0014t0004 a0002c0002t0001 a0002c0003t0001 a0002c0012t0004 a0002c0019t0004 a0003c0004t0001 a0003c0033t0004 a0004c0015t0001 a0004c0040t0001 a0004c0041t0004 a0012c0039t0001 a0015c0045t0001	a0001c0001t0001g0052 a0001c0001t0001g0098 a0001c0001t0001g0121 others(45): Show a0001c0001t0001g0052 a0001c0001t0001g0098 a0001c0001t0001g0121 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0170 a0001c0001t0001g0188 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0229 a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0001g0271 a0001c0001t0001g0278 a0001c0001t0001g0292 a0001c0001t0001g0299 a0001c0001t0001g0305 a0001c0001t0001g0308 a0001c0001t0001g0342 a0001c0001t0002g0154 a0001c0001t0004g0352 a0001c0005t0004g0177 a0001c0005t0004g0356 a0001c0014t0001g0125 a0001c0014t0004g0095 a0002c0002t0001g0023 a0002c0002t0001g0057 a0002c0002t0001g0073 a0002c0002t0001g0114 a0002c0002t0001g0237 a0002c0002t0001g0260 a0002c0003t0001g0019 a0002c0003t0001g0150 a0002c0003t0001g0172 a0002c0003t0001g0300 a0002c0012t0004g0346 a0002c0019t0004g0107 a0003c0004t0001g0105 a0003c0004t0001g0152 a0003c0033t0004g0364 a0004c0015t0001g0002 a0004c0015t0001g0085 a0004c0040t0001g0147 a0004c0041t0004g0006 a0012c0039t0001g0117 a0015c0045t0001g0021	48	376	0.1277	20	c.243 others(37): Show c.2430-371_2430-352dupCACACACACACACACACACA	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	21/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138718577	C C	CATGGGGA others(13): Show CATGGGGAGGAATGGGGAGGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp2 HG01069.hp2 others(19): Show HG00140.hp2 HG00558.hp2 HG01069.hp2 HG01071.hp1 HG01167.hp2 HG01169.hp1 HG01255.hp2 HG02071.hp2 HG02135.hp2 HG02523.hp1 HG02630.hp2 HG02818.hp1 HG02896.hp1 HG03139.hp1 HG03239.hp1 HG03831.hp1 NA18747.hp2 NA18943.hp2 NA18951.hp2 NA18982.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0008	a0001c0001 a0001c0005 a0001c0014 others(4): Show a0001c0001 a0001c0005 a0001c0014 a0002c0002 a0002c0025 a0004c0018 a0008c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0005t0001 a0001c0005t0004 a0001c0005t0005 a0001c0014t0004 a0002c0002t0001 a0002c0025t0001 a0004c0018t0002 a0008c0024t0002	a0001c0001t0001g0178 a0001c0001t0001g0194 a0001c0001t0001g0201 others(19): Show a0001c0001t0001g0178 a0001c0001t0001g0194 a0001c0001t0001g0201 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0002g0199 a0001c0001t0003g0327 a0001c0001t0003g0343 a0001c0005t0001g0032 a0001c0005t0004g0356 a0001c0005t0005g0067 a0001c0014t0004g0095 a0002c0002t0001g0115 a0002c0002t0001g0203 a0002c0002t0001g0227 a0002c0002t0001g0294 a0002c0002t0001g0296 a0002c0025t0001g0205 a0002c0025t0001g0286 a0004c0018t0002g0096 a0008c0024t0002g0324 a0008c0024t0002g0325	22	376	0.0585	20	c.214 others(39): Show c.2140-2697_2140-2696insTCCTCCCCATTCCTCCCCAT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	19/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138730341	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0011 a0003c0004t0011	a0003c0004t0011g0371 a0003c0004t0011g0371	1	376	0.0027	20	c.190 others(39): Show c.1909-1499_1909-1480dupACACACACACACACACACAC	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	17/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138737115	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG06807.hp1 HG02647.hp1 HG06807.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0103 a0001c0013t0001g0366 a0001c0013t0001g0103 a0001c0013t0001g0366	2	376	0.0053	20	c.157 others(39): Show c.1572+2424_1572+2425insATATATATATATATATATAT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	15/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138745658	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02647.hp1 HG03453.hp1 others(1): Show HG02109.hp2 HG02647.hp1 HG03453.hp1 HG03579.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0013 a0003c0031 a0004c0041 a0001c0013 a0003c0031 a0004c0041	a0001c0013t0001 a0003c0031t0006 a0004c0041t0004 a0001c0013t0001 a0003c0031t0006 a0004c0041t0004	a0001c0013t0001g0206 a0001c0013t0001g0366 a0003c0031t0006g0344 others(1): Show a0001c0013t0001g0206 a0001c0013t0001g0366 a0003c0031t0006g0344 a0004c0041t0004g0006	4	376	0.0106	20	c.132 others(37): Show c.1321-379_1321-378insTTTTTTTTTTTTTTTTTTTT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	13/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138746005	T T	TATATATT others(13): Show TATATATTATAAATATAAATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0246 a0001c0001t0005g0246	1	376	0.0027	20	c.132 others(37): Show c.1321-726_1321-725insTATTTATATTTATAATATAT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	13/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138777633	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0195 a0001c0021t0001g0196 a0001c0021t0001g0195 a0001c0021t0001g0196	2	376	0.0053	20	c.-17 others(37): Show c.-17-6389_-17-6370dupGTGTGTGTGTGTGTGTGTGT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	2/21			chr7	TogoVar
ATP6V0D2_chr8_86093910_86159225	86104850	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	360	0.0028	20	c.130 others(37): Show c.130+5752_130+5771dupCACACACACACACACACACA	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(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01175.hp1 HG02056.hp2 others(8): Show HG00741.hp2 HG01175.hp1 HG02056.hp2 HG02280.hp1 HG03704.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19076.hp1 NA19080.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0066 others(8): Show a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0066 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0110 a0001c0001t0001g0256 a0001c0001t0002g0099 a0001c0001t0003g0222	11	360	0.0306	20	c.302 others(39): Show c.302+12364_302+12383dupATATATATATATATATATAT	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(13): Show AAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0259	1	360	0.0028	20	c.639 others(37): Show c.639+2263_639+2282dupAAGAAAGAAAGAAAGAAAGA	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(13): Show AAGAAAGAAAGAAAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	360	0.0028	20	c.639 others(37): Show c.639+2282_639+2283insAAGAAAGAAAGAGAGAGAGA	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V0E1_chr5_172978771_173040445	172996574	A A	AATACATA others(13): Show AATACATACATACATACATAC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	292	0.0034	20	c.152 others(37): Show c.152+1760_152+1779dupCATACATACATACATACATA	ATP6V0E1	ENSG00000113732.9	transcript	ENST00000519374.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATP6V1B1_chr2_70930900_70970431	70964114	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	440	0.0023	20	c.114 others(37): Show c.1144-321_1144-302dupTTTTTTTTTTTTTTTTTTTT	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1E2_chr2_46506847_46547577	46518490	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02004.hp2 HG02145.hp2 others(1): Show HG00280.hp1 HG02004.hp2 HG02145.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0087 a0001c0001t0001g0286 others(1): Show a0001c0001t0001g0073 a0001c0001t0001g0087 a0001c0001t0001g0286 a0001c0001t0001g0293	4	410	0.0098	20	c.-10 others(39): Show c.-101-5698_-101-5679dupGTGTGTGTGTGTGTGTGTGT	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding	4/4			chr2	TogoVar
ATP6V1E2_chr2_46506847_46547577	46518758	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	410	0.0024	20	c.-10 others(39): Show c.-101-5966_-101-5947dupCACACACACACACACACACA	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding	4/4			chr2	TogoVar
ATP7A_chrX_77905693_78055395	77956726	C C	CCTTTCTT others(13): Show CCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	233	0.0043	20	c.-21 others(39): Show c.-21-14852_-21-14833dupTTCTTTCTTTCTTTCTTTCT	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	1/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7B_chr13_51927669_52016450	51953851	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02896.hp2 HG02897.hp2 others(3): Show HG02647.hp1 HG02896.hp2 HG02897.hp2 HG03017.hp2 NA18522.hp1 NA18906.hp1	a0002 a0003 a0008 a0002 a0003 a0008	a0002c0002 a0003c0005 a0008c0010 a0002c0002 a0003c0005 a0008c0010	a0002c0002t0007 a0003c0005t0004 a0008c0010t0006 a0002c0002t0007 a0003c0005t0004 a0008c0010t0006	a0002c0002t0007g0073 a0002c0002t0007g0094 a0002c0002t0007g0097 others(3): Show a0002c0002t0007g0073 a0002c0002t0007g0094 a0002c0002t0007g0097 a0002c0002t0007g0098 a0003c0005t0004g0024 a0008c0010t0006g0254	6	302	0.0199	20	c.244 others(39): Show c.2448-3453_2448-3452insTTTTTTTTTTTTTTTTTTTT	ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	9/20			chr13	TogoVar
ATP7B_chr13_51927669_52016450	51953868	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0157 a0003c0003t0005g0157	1	302	0.0033	20	c.244 others(39): Show c.2448-3470_2448-3469insGTTTTTTTTTTTTTTTTTTT	ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	9/20			chr13	TogoVar
ATP8A1_chr4_42403373_42662105	42446080	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0005 a0004c0011t0005	a0004c0011t0005g0228 a0004c0011t0005g0228	1	310	0.0032	20	c.295 others(37): Show c.2958+502_2958+503insTTTTTTTTTTTTTTTTTTTT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	31/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42585496	A A	ATGTGAAC others(13): Show ATGTGAACCTTACAAAAGAGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG06807.hp1 HG02258.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0005 a0001c0001t0005 a0001c0002t0005	a0001c0001t0005g0309 a0001c0002t0005g0189 a0001c0001t0005g0309 a0001c0002t0005g0189	2	310	0.0065	20	c.722 others(35): Show c.722+852_722+853insCCTCTTTTGTAAGGTTCACA	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	9/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42635780	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp2 NA18906.hp2 HG01516.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0021 a0001c0001t0007 a0001c0001t0021	a0001c0001t0007g0151 a0001c0001t0021g0187 a0001c0001t0007g0151 a0001c0001t0021g0187	2	310	0.0065	20	c.50- others(35): Show c.50-8672_50-8671insATATATATATATATATATAT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42635782	C C	CACACATA others(13): Show CACACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03942.hp1 HG02622.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0024 a0001c0004t0010 a0001c0001t0024 a0001c0004t0010	a0001c0001t0024g0009 a0001c0004t0010g0299 a0001c0001t0024g0009 a0001c0004t0010g0299	2	310	0.0065	20	c.50- others(35): Show c.50-8674_50-8673insATATATATATATATATGTGT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42635782	C C	CACATATA others(13): Show CACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01515.hp1 others(2): Show HG01069.hp1 HG01071.hp2 HG01515.hp1 HG03490.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011	a0001c0001t0001g0069 a0001c0001t0002g0147 a0001c0001t0003g0280 others(2): Show a0001c0001t0001g0069 a0001c0001t0002g0147 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0011g0002	5	310	0.0161	20	c.50- others(35): Show c.50-8674_50-8673insATATATATATATATATATGT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42635782	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01943.hp2 HG02300.hp2 others(3): Show HG01928.hp2 HG01943.hp2 HG02300.hp2 NA18960.hp1 NA18963.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0002t0013	a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0002g0075 others(3): Show a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0002g0075 a0001c0001t0003g0275 a0001c0001t0011g0006 a0001c0002t0013g0091	6	310	0.0194	20	c.50- others(35): Show c.50-8693_50-8674dupATATATATATATATATATAT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42636156	A A	ACACACGC others(13): Show ACACACGCGCGTGCGCGCGCG	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA18943.hp2 NA18963.hp1 HG01884.hp1 NA18943.hp2 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0002t0004 a0001c0001t0002 a0001c0001t0005 a0001c0002t0004	a0001c0001t0002g0075 a0001c0001t0005g0256 a0001c0002t0004g0109 a0001c0001t0002g0075 a0001c0001t0005g0256 a0001c0002t0004g0109	3	310	0.0097	20	c.50- others(35): Show c.50-9048_50-9047insCGCGCGCGCACGCGCGTGTG	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42636156	A A	ACACGCGC others(13): Show ACACGCGCGCGTGCGCGCGCG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG03130.hp2 HG03942.hp1 HG01074.hp1 HG03130.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0009 a0001c0004t0010 a0001c0001t0009 a0001c0004t0010	a0001c0001t0009g0223 a0001c0004t0010g0283 a0001c0004t0010g0299 a0001c0001t0009g0223 a0001c0004t0010g0283 a0001c0004t0010g0299	3	310	0.0097	20	c.50- others(35): Show c.50-9048_50-9047insCGCGCGCGCACGCGCGCGTG	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42636156	A A	ACACGCGC others(13): Show ACACGCGCGTGCGCGCGCGCG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	310	0.0032	20	c.50- others(35): Show c.50-9048_50-9047insCGCGCGCGCGCACGCGCGTG	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42636156	A A	ACGCGCGC others(13): Show ACGCGCGCGTGCGCGCGCGCG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	310	0.0032	20	c.50- others(35): Show c.50-9048_50-9047insCGCGCGCGCGCACGCGCGCG	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A2_chr13_25366974_26030851	25465748	C C	CCTCCCTC others(13): Show CCTCCCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0051 a0001c0001t0017g0051	1	122	0.0082	20	c.77- others(35): Show c.77-3226_77-3225insCCTCTCTCTCTCTCTCTCTC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25465755	C C	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0041 a0001c0001t0018g0041	1	122	0.0082	20	c.77- others(35): Show c.77-3215_77-3214insCTCTCTCTCTCTTTCTCTCT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25506940	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0027	a0001c0003t0027g0047 a0001c0003t0027g0047	1	122	0.0082	20	c.222 others(39): Show c.222-23056_222-23037dupATATATATATATATATATAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25744925	T T	TTTTTCTT others(13): Show TTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18906.hp2 HG03225.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0030 a0001c0003t0073 a0001c0001t0030 a0001c0003t0073	a0001c0001t0030g0087 a0001c0003t0073g0001 a0001c0001t0030g0087 a0001c0003t0073g0001	2	122	0.0164	20	c.238 others(41): Show c.2385-24111_2385-24092dupCTTTTCTTTTCTTTTCTTTT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	25/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25794820	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0062 a0001c0003t0062	a0001c0003t0062g0024 a0001c0003t0062g0024	1	122	0.0082	20	c.267 others(41): Show c.2679+19882_2679+19901dupACACACACACACACACACAC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	27/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25813382	T T	TATATGAT others(13): Show TATATGATATGATATGATATG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0055 a0001c0021t0055	a0001c0021t0055g0077 a0001c0021t0055g0077	1	122	0.0082	20	c.268 others(41): Show c.2680-14716_2680-14697dupGATATGATATGATATGATAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	27/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25889245	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02273.hp2 HG03098.hp2 others(1): Show HG01358.hp2 HG02273.hp2 HG03098.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010	a0001c0001t0002 a0001c0002t0021 a0001c0003t0002 others(1): Show a0001c0001t0002 a0001c0002t0021 a0001c0003t0002 a0001c0010t0012	a0001c0001t0002g0079 a0001c0002t0021g0017 a0001c0003t0002g0108 others(1): Show a0001c0001t0002g0079 a0001c0002t0021g0017 a0001c0003t0002g0108 a0001c0010t0012g0091	4	122	0.0328	20	c.318 others(41): Show c.3183+26847_3183+26866dupTATATATATATATATATATA	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	33/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25892478	G G	GTCTCTCT others(13): Show GTCTCTCTGTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0017 a0001c0002t0021g0017	1	122	0.0082	20	c.318 others(41): Show c.3183+30077_3183+30078insGTCTCTCTCTCTCTCTCTCT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	33/36		INFO_REALIGN_3_PRIME	chr13	TogoVar

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