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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Select column to sort.

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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
AKAP8L_chr19_15375050_15423988	15392896	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00738.hp2 HG00741.hp1 others(11): Show HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01243.hp1 HG01496.hp1 HG01517.hp2 HG02145.hp1 HG02258.hp2 HG02572.hp2 HG02735.hp1 HG03669.hp2 HG03688.hp1 NA18940.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0195 a0001c0001t0001g0199 others(10): Show a0001c0001t0001g0008 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216	14	254	0.0551	11	c.153 others(30): Show c.1536+4243_1536+4253dupTTTTTTTTTTT	AKAP8L	ENSG00000011243.19	transcript	ENST00000397410.10	protein_coding	12/13			chr19	TogoVar
AKAP8L_chr19_15375050_15423988	15395983	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02055.hp2 HG02257.hp1 others(10): Show HG02027.hp2 HG02055.hp2 HG02257.hp1 HG02451.hp1 HG02630.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG06807.hp1 NA19004.hp1 NA19004.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(10): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0055 a0001c0001t0001g0075 a0001c0001t0001g0133 a0001c0001t0001g0148 a0001c0001t0001g0172 a0001c0001t0001g0177	13	254	0.0512	11	c.153 others(30): Show c.1536+1156_1536+1166dupTTTTTTTTTTT	AKAP8L	ENSG00000011243.19	transcript	ENST00000397410.10	protein_coding	12/13			chr19	TogoVar
AKAP8_chr19_15348385_15384787	15353320	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00735.hp1 HG01952.hp1 others(4): Show HG00558.hp2 HG00735.hp1 HG01952.hp1 HG01952.hp2 HG02738.hp2 NA18944.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0101 a0001c0001t0004g0128 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0101 a0001c0001t0004g0128 a0001c0001t0004g0135 a0001c0001t0004g0247 a0001c0001t0011g0197 a0001c0003t0001g0138	7	286	0.0245	11	c.15 others(22): Show c.1594_*1595insTTTTTTTTTTT	AKAP8	ENSG00000105127.10	transcript	ENST00000269701.7	protein_coding		64		chr19	TogoVar
AKAP8_chr19_15348385_15384787	15376087	G G	GCCCACTG others(4): Show GCCCACTGCCAC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0073	1	286	0.0035	11	c.58+ others(24): Show c.58+888_58+889insGTGGCAGTGGG	AKAP8	ENSG00000105127.10	transcript	ENST00000269701.7	protein_coding	2/13			chr19	TogoVar
AKAP9_chr7_91935862_92115673	92012973	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA19003.hp1 HG02647.hp2 NA19003.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0002 a0001c0001t0001 a0003c0003t0002	a0001c0001t0001g0067 a0003c0003t0002g0212 a0001c0001t0001g0067 a0003c0003t0002g0212	2	306	0.0065	11	c.353 others(28): Show c.3532+357_3532+367dupTTTTTTTTTTT	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	9/49		INFO_REALIGN_3_PRIME	chr7	TogoVar
AKIRIN1_chr1_38986276_39011059	38994672	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA19066.hp1 HG02615.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0185 a0001c0001t0001g0186	2	426	0.0047	11	c.220 others(28): Show c.220+3096_220+3106dupTTTTTTTTTTT	AKIRIN1	ENSG00000174574.16	transcript	ENST00000432648.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
AKNA_chr9_114329156_114392982	114372964	C C	CGGGGGGG others(4): Show CGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02258.hp1 HG01168.hp1 HG02258.hp1	a0001 a0005 a0001 a0005	a0001c0020 a0005c0005 a0001c0020 a0005c0005	a0001c0020t0003 a0005c0005t0008 a0001c0020t0003 a0005c0005t0008	a0001c0020t0003g0142 a0005c0005t0008g0340 a0001c0020t0003g0142 a0005c0005t0008g0340	2	388	0.0052	11	c.141 others(30): Show c.1416+1118_1416+1128dupCCCCCCCCCCC	AKNA	ENSG00000106948.17	transcript	ENST00000374088.8	protein_coding	4/21			chr9	TogoVar
AKNA_chr9_114329156_114392982	114372966	G G	GGGGGGGG others(4): Show GGGGGGGGGGGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0020 a0005c0014t0020	a0005c0014t0020g0272 a0005c0014t0020g0272	1	388	0.0026	11	c.141 others(30): Show c.1416+1126_1416+1127insTCCCCCCCCCC	AKNA	ENSG00000106948.17	transcript	ENST00000374088.8	protein_coding	4/21			chr9	TogoVar
AKNA_chr9_114329156_114392982	114380981	C C	CAGAAAAA others(4): Show CAGAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02886.hp2 HG03225.hp2 HG02809.hp1 HG02886.hp2 HG03225.hp2	a0011 a0011	a0011c0010 a0011c0027 a0011c0010 a0011c0027	a0011c0010t0014 a0011c0010t0031 a0011c0027t0014 a0011c0010t0014 a0011c0010t0031 a0011c0027t0014	a0011c0010t0014g0180 a0011c0010t0031g0212 a0011c0027t0014g0179 a0011c0010t0014g0180 a0011c0010t0031g0212 a0011c0027t0014g0179	3	388	0.0077	11	c.274 others(24): Show c.274+78_274+79insTTTTTTTTTCT	AKNA	ENSG00000106948.17	transcript	ENST00000374088.8	protein_coding	2/21			chr9	TogoVar
AKR1A1_chr1_45545826_45575049	45549000	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 HG02523.hp2 NA18939.hp2 others(1): Show HG02155.hp2 HG02523.hp2 NA18939.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0035 a0001c0001t0001g0152 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0035 a0001c0001t0001g0152 a0001c0001t0001g0168	4	352	0.0114	11	c.-21 others(22): Show c.-2162_-2161insTTTTTTTTTTT	AKR1A1	ENSG00000117448.14	transcript	ENST00000351829.9	protein_coding		1825		chr1	TogoVar
AKR1A1_chr1_45545826_45575049	45557912	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01069.hp2 HG02922.hp2 others(6): Show HG00544.hp1 HG01069.hp2 HG02922.hp2 HG03225.hp1 NA18959.hp2 NA18994.hp2 NA19057.hp1 NA19057.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0070 a0001c0001t0002g0076 others(5): Show a0001c0001t0002g0026 a0001c0001t0002g0070 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0102 a0001c0001t0002g0123 a0001c0001t0002g0200 a0001c0001t0002g0202	9	352	0.0256	11	c.-6- others(26): Show c.-6-3872_-6-3862dupTTTTTTTTTTT	AKR1A1	ENSG00000117448.14	transcript	ENST00000351829.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
AKR1A1_chr1_45545826_45575049	45561401	C C	CCACCCCT others(4): Show CCACCCCTTCCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(181): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18959.hp2 NA18962.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0003c0003 a0004c0006 others(1): Show a0001c0001 a0003c0003 a0004c0006 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0003c0003t0003 a0004c0006t0002 a0005c0008t0002	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0140 others(103): Show a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0212 a0001c0001t0001g0217 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0003g0018 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0004g0001 a0003c0003t0003g0218 a0003c0003t0003g0219 a0004c0006t0002g0204 a0005c0008t0002g0125	184	352	0.5227	11	c.-6- others(24): Show c.-6-388_-6-387insCACCCCTTCCT	AKR1A1	ENSG00000117448.14	transcript	ENST00000351829.9	protein_coding	1/8			chr1	TogoVar
AKR1C3_chr10_5089414_5112686	5106923	A A	AGGAAACC others(4): Show AGGAAACCATGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00438.hp1 others(189): Show HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG01074.hp1 HG01081.hp2 HG01123.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01891.hp2 HG01928.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03195.hp1 HG03516.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19011.hp1 NA19012.hp2 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19059.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0009	a0001c0001 a0003c0004 a0006c0009 others(1): Show a0001c0001 a0003c0004 a0006c0009 a0009c0012	a0001c0001t0001 a0003c0004t0001 a0006c0009t0001 others(1): Show a0001c0001t0001 a0003c0004t0001 a0006c0009t0001 a0009c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(53): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0058 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0003c0004t0001g0004 a0003c0004t0001g0021 a0003c0004t0001g0101 a0003c0004t0001g0102 a0003c0004t0001g0103 a0003c0004t0001g0113 a0006c0009t0001g0001 a0009c0012t0001g0004	192	438	0.4384	11	c.930 others(26): Show c.930-538_930-537insGGAAACCATGT	AKR1C3	ENSG00000196139.14	transcript	ENST00000380554.5	protein_coding	8/8			chr10	TogoVar
AKR1C4_chr10_5191837_5223949	5222387	T T	TCTGCAAC others(4): Show TCTGCAACTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	434	0.0023	11	c.36 others(22): Show c.3627_*3628insCTGCAACTCCA	AKR1C4	ENSG00000198610.11	transcript	ENST00000263126.3	protein_coding		3439		chr10	TogoVar
AKR1D1_chr7_138071459_138123305	138075367	C C	CGATGGAT others(4): Show CGATGGATCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02809.hp1 HG03130.hp1 others(2): Show HG02109.hp1 HG02809.hp1 HG03130.hp1 HG03579.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0035 a0001c0001t0013 a0001c0001t0035	a0001c0001t0013g0108 a0001c0001t0013g0360 a0001c0001t0013g0361 others(2): Show a0001c0001t0013g0108 a0001c0001t0013g0360 a0001c0001t0013g0361 a0001c0001t0035g0213 a0001c0001t0035g0348	5	426	0.0117	11	c.-11 others(22): Show c.-1152_-1151insGATGGATCCAT	AKR1D1	ENSG00000122787.15	transcript	ENST00000242375.8	protein_coding		1091		chr7	TogoVar
AKR1D1_chr7_138071459_138123305	138081506	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0347 a0001c0001t0049g0347	1	426	0.0024	11	c.93+ others(26): Show c.93+4921_93+4931dupTTTTTTTTTTT	AKR1D1	ENSG00000122787.15	transcript	ENST00000242375.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
AKR1D1_chr7_138071459_138123305	138100088	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01109.hp1 HG02155.hp2 others(7): Show HG00673.hp2 HG01109.hp1 HG02155.hp2 NA18974.hp1 NA18994.hp2 NA18999.hp1 NA19010.hp1 NA19030.hp2 NA19079.hp2 NA19088.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0003 a0001c0001t0012 a0001c0001t0060 others(1): Show a0001c0001t0003 a0001c0001t0012 a0001c0001t0060 a0004c0008t0003	a0001c0001t0003g0062 a0001c0001t0003g0071 a0001c0001t0003g0077 others(7): Show a0001c0001t0003g0062 a0001c0001t0003g0071 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0084 a0001c0001t0003g0100 a0001c0001t0003g0325 a0001c0001t0012g0054 a0001c0001t0060g0070 a0004c0008t0003g0079	10	426	0.0235	11	c.456 others(28): Show c.456+2165_456+2175dupAAAAAAAAAAA	AKR1D1	ENSG00000122787.15	transcript	ENST00000242375.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
AKT1_chr14_104764349_104800748	104795764	C C	CCCCGCCC others(4): Show CCCCGCCCCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG01168.hp2 HG02074.hp1 HG00609.hp1 HG01168.hp2 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0199 a0001c0001t0001g0251 a0001c0002t0001g0250 a0001c0001t0001g0199 a0001c0001t0001g0251 a0001c0002t0001g0250	3	386	0.0078	11	c.-53 others(20): Show c.-539_-538insCGCGGGGCGGG	AKT1	ENSG00000142208.18	transcript	ENST00000649815.2	protein_coding		17		chr14	TogoVar
AKT2_chr19_40225317_40290345	40290248	A A	AAATAAAT others(4): Show AAATAAATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0317	1	360	0.0028	11	c.-51 others(22): Show c.-5153_-5152insATTTATTTATT	AKT2	ENSG00000105221.18	transcript	ENST00000392038.7	protein_coding		4904		chr19	TogoVar
AKT3_chr1_243494724_243855243	243552288	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp2 HG02886.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0029 a0001c0001t0020 a0001c0001t0029	a0001c0001t0020g0293 a0001c0001t0029g0151 a0001c0001t0020g0293 a0001c0001t0029g0151	2	301	0.0066	11	c.116 others(28): Show c.1163+430_1163+440dupTTTTTTTTTTT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	11/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243686651	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0009 a0001c0001t0012g0009	1	301	0.0033	11	c.172 others(28): Show c.172+8939_172+8940insATATATATATA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	3/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243686652	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03209.hp1 HG02622.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0044 a0001c0001t0012 a0001c0001t0044	a0001c0001t0012g0012 a0001c0001t0044g0058 a0001c0001t0012g0012 a0001c0001t0044g0058	2	301	0.0066	11	c.172 others(28): Show c.172+8938_172+8939insTATATATATAT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	3/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243845599	A A	AAAAAAAA others(4): Show AAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0019	1	301	0.0033	11	c.-11 others(30): Show c.-112-2318_-112-2317insCTTTTTTTTTT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	1/13			chr1	TogoVar
ALAD_chr9_113381312_113406284	113381760	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02630.hp2 HG03471.hp2 HG02559.hp2 HG02630.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0083 a0001c0001t0001g0123 a0001c0002t0001g0301 a0001c0001t0001g0083 a0001c0001t0001g0123 a0001c0002t0001g0301	3	446	0.0067	11	c.65 others(22): Show c.6539_*6540insAAAAAAAAAAA	ALAD	ENSG00000148218.16	transcript	ENST00000409155.8	protein_coding		4551		chr9	TogoVar
ALAD_chr9_113381312_113406284	113400065	C C	CGCCTCTG others(4): Show CGCCTCTGGGGT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA19005.hp2 NA19081.hp1 NA18982.hp2 NA19005.hp2 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	3	446	0.0067	11	c.-76 others(28): Show c.-76+1136_-76+1146dupACCCCAGAGGC	ALAD	ENSG00000148218.16	transcript	ENST00000409155.8	protein_coding	1/11			chr9	TogoVar
ALAS1_chr3_52193160_52219327	52194052	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	354	0.0028	11	c.-44 others(22): Show c.-4413_-4412insAAGAAAGAAAG	ALAS1	ENSG00000023330.15	transcript	ENST00000484952.6	protein_coding		4107		chr3	TogoVar
ALB_chr4_73399287_73426482	73426435	A A	AGGTACCA others(4): Show AGGTACCATCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01106.hp2 HG01123.hp2 others(19): Show HG00639.hp1 HG01106.hp2 HG01123.hp2 HG01256.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02273.hp2 HG02293.hp2 HG02738.hp2 HG03688.hp1 NA18964.hp1 NA18981.hp1 NA19001.hp2 NA19009.hp2 NA19012.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0005c0005t0001 a0001c0001t0001 a0005c0005t0001	a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0065 others(6): Show a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0005c0005t0001g0005	22	392	0.0561	11	c.53 others(22): Show c.5367_*5368insGGTACCATCAG	ALB	ENSG00000163631.19	transcript	ENST00000295897.9	protein_coding		4954		chr4	TogoVar
ALCAM_chr3_105361909_105581900	105368264	A A	AGAGAGAG others(4): Show AGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA18975.hp1 HG02055.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0009 a0001c0001t0001 a0001c0002t0009	a0001c0001t0001g0339 a0001c0002t0009g0188 a0001c0001t0001g0339 a0001c0002t0009g0188	2	378	0.0053	11	c.73+ others(24): Show c.73+783_73+784insGAGAGAGAGAG	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	1/15			chr3	TogoVar
ALCAM_chr3_105361909_105581900	105454653	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0036 a0001c0003t0002g0036	1	378	0.0027	11	c.74- others(28): Show c.74-65390_74-65380dupTTTTTTTTTTT	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ALCAM_chr3_105361909_105581900	105563667	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00735.hp2 HG01175.hp1 others(31): Show HG00558.hp1 HG00735.hp2 HG01175.hp1 HG01884.hp1 HG02132.hp2 HG02257.hp1 HG02486.hp2 HG02717.hp1 HG02717.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG03041.hp2 HG03471.hp2 HG03579.hp1 NA18522.hp1 NA18906.hp2 NA18939.hp2 NA18948.hp1 NA18951.hp2 NA18954.hp2 NA18960.hp2 NA18972.hp1 NA18973.hp1 NA18985.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp1 NA19011.hp2 NA19054.hp1 NA19068.hp1 NA19081.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0005 a0001c0001t0024 others(4): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0024 a0001c0002t0003 a0001c0002t0008 a0001c0002t0022 a0001c0002t0027	a0001c0001t0004g0157 a0001c0001t0004g0159 a0001c0001t0004g0163 others(31): Show a0001c0001t0004g0157 a0001c0001t0004g0159 a0001c0001t0004g0163 a0001c0001t0004g0171 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0192 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0237 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0279 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0304 a0001c0001t0004g0319 a0001c0001t0005g0012 a0001c0001t0005g0119 a0001c0001t0005g0244 a0001c0001t0005g0350 a0001c0001t0024g0149 a0001c0002t0003g0216 a0001c0002t0003g0249 a0001c0002t0003g0253 a0001c0002t0003g0271 a0001c0002t0003g0273 a0001c0002t0003g0311 a0001c0002t0003g0313 a0001c0002t0003g0318 a0001c0002t0003g0372 a0001c0002t0008g0155 a0001c0002t0022g0301 a0001c0002t0027g0325	34	378	0.0900	11	c.166 others(30): Show c.1665-8164_1665-8154dupTTTTTTTTTTT	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ALCAM_chr3_105361909_105581900	105563680	T T	TTTTTTTT others(4): Show TTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG03453.hp1 HG01070.hp2 HG01071.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0005 a0001c0002t0003g0340 a0001c0002t0003g0005 a0001c0002t0003g0340	3	378	0.0079	11	c.166 others(30): Show c.1665-8162_1665-8161insCTTTTTTTTTT	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ALDH1A1_chr9_72895671_72958053	72908544	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA21309.hp2 HG01109.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0190 a0001c0001t0001g0020 a0001c0001t0001g0190	2	306	0.0065	11	c.135 others(30): Show c.1358+1057_1358+1058insCTTTCTTTCTT	ALDH1A1	ENSG00000165092.13	transcript	ENST00000297785.8	protein_coding	11/12			chr9	TogoVar
ALDH1A2_chr15_57948429_58070711	58023658	G G	GAAAAAAA others(4): Show GAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00673.hp2 HG00733.hp1 others(48): Show HG00544.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01099.hp2 HG01167.hp2 HG01175.hp2 HG01256.hp2 HG01358.hp1 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02027.hp2 HG02074.hp1 HG02258.hp2 HG02273.hp1 HG02572.hp1 HG02622.hp2 HG02738.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG03098.hp1 HG03225.hp1 HG03669.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18747.hp1 NA18943.hp2 NA18944.hp2 NA18961.hp2 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18985.hp2 NA18988.hp2 NA18990.hp2 NA18999.hp2 NA19054.hp1 NA19056.hp2 NA19064.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 a0002c0002t0003 a0002c0003t0003 a0002c0004t0003	a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0153 others(47): Show a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0153 a0001c0001t0001g0217 a0001c0001t0003g0154 a0002c0002t0002g0110 a0002c0002t0003g0002 a0002c0002t0003g0010 a0002c0002t0003g0012 a0002c0002t0003g0013 a0002c0002t0003g0014 a0002c0002t0003g0021 a0002c0002t0003g0022 a0002c0002t0003g0023 a0002c0002t0003g0024 a0002c0002t0003g0025 a0002c0002t0003g0026 a0002c0002t0003g0027 a0002c0002t0003g0031 a0002c0002t0003g0032 a0002c0002t0003g0033 a0002c0002t0003g0034 a0002c0002t0003g0035 a0002c0002t0003g0036 a0002c0002t0003g0037 a0002c0002t0003g0039 a0002c0002t0003g0040 a0002c0002t0003g0041 a0002c0002t0003g0042 a0002c0002t0003g0043 a0002c0002t0003g0045 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0050 a0002c0002t0003g0054 a0002c0002t0003g0055 a0002c0002t0003g0056 a0002c0002t0003g0060 a0002c0002t0003g0074 a0002c0002t0003g0091 a0002c0002t0003g0313 a0002c0002t0003g0314 a0002c0003t0003g0011 a0002c0003t0003g0015 a0002c0003t0003g0016 a0002c0003t0003g0017 a0002c0003t0003g0018 a0002c0003t0003g0044 a0002c0004t0003g0147 a0002c0004t0003g0148	51	326	0.1564	11	c.118 others(28): Show c.118-9388_118-9378dupTTTTTTTTTTT	ALDH1A2	ENSG00000128918.15	transcript	ENST00000249750.9	protein_coding	1/12			chr15	TogoVar
ALDH1A2_chr15_57948429_58070711	58023658	G G	GGAAAAAA others(4): Show GGAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18949.hp2 NA18950.hp2 others(9): Show NA18947.hp1 NA18949.hp2 NA18950.hp2 NA18979.hp2 NA18991.hp1 NA18995.hp1 NA19002.hp2 NA19010.hp2 NA19060.hp2 NA19062.hp1 NA19065.hp1 NA19084.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0019 a0002c0003t0003g0020 a0002c0003t0003g0028 others(9): Show a0002c0003t0003g0019 a0002c0003t0003g0020 a0002c0003t0003g0028 a0002c0003t0003g0029 a0002c0003t0003g0030 a0002c0003t0003g0049 a0002c0003t0003g0051 a0002c0003t0003g0052 a0002c0003t0003g0053 a0002c0003t0003g0135 a0002c0003t0003g0168 a0002c0003t0003g0195	12	326	0.0368	11	c.118 others(28): Show c.118-9378_118-9377insTTTTTTTTTTC	ALDH1A2	ENSG00000128918.15	transcript	ENST00000249750.9	protein_coding	1/12			chr15	TogoVar
ALDH1B1_chr9_38387702_38403661	38403435	T T	TCTCTCTC others(4): Show TCTCTCTCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	484	0.0021	11	c.61 others(22): Show c.6133_*6134insCTCTCTCTCCC	ALDH1B1	ENSG00000137124.8	transcript	ENST00000377698.4	protein_coding		4775		chr9	TogoVar
ALDH1L2_chr12_105014790_105089458	105046222	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0016 a0001c0001t0012g0016	1	386	0.0026	11	c.186 others(28): Show c.1863+487_1863+488insTATATATATAT	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	15/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105064114	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02897.hp2 NA18957.hp2 others(1): Show HG02165.hp2 HG02897.hp2 NA18957.hp2 NA18984.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0005 a0001c0001 a0002c0004 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0002c0004t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0004t0002 a0003c0005t0003	a0001c0001t0001g0045 a0001c0001t0003g0306 a0002c0004t0002g0315 others(1): Show a0001c0001t0001g0045 a0001c0001t0003g0306 a0002c0004t0002g0315 a0003c0005t0003g0307	4	386	0.0104	11	c.787 others(28): Show c.787-1103_787-1093dupAAAAAAAAAAA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	6/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG03492.hp1 NA20752.hp2 HG03492.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0002 a0001c0001t0006 a0001c0002t0002	a0001c0001t0006g0354 a0001c0002t0002g0118 a0001c0001t0006g0354 a0001c0002t0002g0118	2	386	0.0052	11	c.194 others(26): Show c.194-839_194-838insATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(4): Show ATATATATATTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG03669.hp1 NA18944.hp1 others(1): Show HG01069.hp2 HG03669.hp1 NA18944.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0107 a0001c0001t0003g0106 a0001c0001t0003g0138 others(1): Show a0001c0001t0001g0107 a0001c0001t0003g0106 a0001c0001t0003g0138 a0001c0002t0002g0172	4	386	0.0104	11	c.194 others(26): Show c.194-839_194-838insAAATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(4): Show ATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0090 a0001c0001t0003g0090	1	386	0.0026	11	c.194 others(26): Show c.194-839_194-838insAAAAATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATTT others(4): Show ATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0144 a0001c0001t0020g0144	1	386	0.0026	11	c.194 others(26): Show c.194-839_194-838insAAAAAAATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105074457	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01884.hp1 HG01981.hp2 others(9): Show HG01358.hp2 HG01884.hp1 HG01981.hp2 HG02074.hp2 HG02451.hp1 HG02886.hp1 HG02897.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 a0001c0002t0009	a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0038 others(9): Show a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0039 a0001c0001t0003g0234 a0001c0001t0004g0233 a0001c0001t0008g0011 a0001c0001t0012g0016 a0001c0002t0009g0015	12	386	0.0311	11	c.49- others(24): Show c.49-453_49-452insTTTTTTTTTTT	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	1/22			chr12	TogoVar
ALDH2_chr12_111761933_111822532	111777107	T T	TGGAAGAA others(4): Show TGGAAGAACTGA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02257.hp2 HG02717.hp2 others(6): Show HG01943.hp2 HG02257.hp2 HG02717.hp2 HG02809.hp1 HG02965.hp2 HG02976.hp2 HG03130.hp1 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 a0001c0001 a0001c0006 a0001c0007	a0001c0001t0017 a0001c0001t0025 a0001c0001t0038 others(4): Show a0001c0001t0017 a0001c0001t0025 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0006t0127 a0001c0007t0017	a0001c0001t0017g0035 a0001c0001t0017g0038 a0001c0001t0025g0036 others(6): Show a0001c0001t0017g0035 a0001c0001t0017g0038 a0001c0001t0025g0036 a0001c0001t0025g0039 a0001c0001t0038g0037 a0001c0001t0039g0041 a0001c0001t0040g0042 a0001c0006t0127g0171 a0001c0007t0017g0040	9	342	0.0263	11	c.115 others(28): Show c.115-4809_115-4808insAAGAACTGAGG	ALDH2	ENSG00000111275.13	transcript	ENST00000261733.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
ALDH3A2_chr17_19643751_19682596	19682365	A A	ACACACAC others(4): Show ACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	366	0.0027	11	c.67 others(22): Show c.6793_*6794insCACACACACAC	ALDH3A2	ENSG00000072210.19	transcript	ENST00000176643.11	protein_coding		4770		chr17	TogoVar
ALDH5A1_chr6_24489969_24542207	24506243	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01175.hp1 others(25): Show HG01070.hp1 HG01071.hp1 HG01175.hp1 HG01256.hp1 HG01433.hp1 HG01934.hp2 HG01981.hp1 HG02683.hp2 HG02735.hp2 HG02738.hp2 HG03654.hp2 HG04204.hp2 NA18945.hp2 NA18947.hp1 NA18966.hp2 NA18968.hp1 NA18970.hp1 NA18974.hp1 NA18977.hp2 NA18981.hp1 NA18992.hp1 NA18994.hp1 NA19011.hp1 NA19058.hp1 NA19083.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2	a0001 a0008 a0012 a0001 a0008 a0012	a0001c0001 a0001c0016 a0008c0010 others(1): Show a0001c0001 a0001c0016 a0008c0010 a0012c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0022 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0022 a0001c0001t0031 a0001c0001t0032 a0001c0016t0006 a0008c0010t0001 a0012c0008t0001	a0001c0001t0001g0167 a0001c0001t0001g0174 a0001c0001t0001g0179 others(25): Show a0001c0001t0001g0167 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0236 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0002g0166 a0001c0001t0022g0204 a0001c0001t0031g0200 a0001c0001t0032g0203 a0001c0016t0006g0201 a0008c0010t0001g0205 a0012c0008t0001g0210	28	368	0.0761	11	c.726 others(28): Show c.726+1278_726+1288dupTTTTTTTTTTT	ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
ALDH5A1_chr6_24489969_24542207	24506273	T T	TTTTTTTT others(4): Show TTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	368	0.0027	11	c.726 others(28): Show c.726+1288_726+1289insTTTTTTTTTTG	ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding	4/9			chr6	TogoVar
ALDH7A1_chr5_126536841_126600219	126571150	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	380	0.0026	11	c.696 others(26): Show c.696-302_696-292dupAAAAAAAAAAA	ALDH7A1	ENSG00000164904.18	transcript	ENST00000409134.8	protein_coding	7/17			chr5	TogoVar
ALG10B_chr12_38311774_38334721	38312544	C C	CTCAAACT others(4): Show CTCAAACTTTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00609.hp1 HG00639.hp1 others(95): Show HG00408.hp1 HG00609.hp1 HG00639.hp1 HG01070.hp2 HG01071.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01516.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02074.hp2 HG02080.hp2 HG02129.hp2 HG02155.hp2 HG02273.hp1 HG02293.hp1 HG02523.hp1 HG02735.hp2 HG02738.hp1 HG02896.hp2 HG02897.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03927.hp2 HG04184.hp2 HG04204.hp2 NA18612.hp1 NA18747.hp1 NA18943.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18976.hp1 NA18977.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19054.hp2 NA19055.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19072.hp1 NA19076.hp2 NA19077.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 others(7): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0001c0001t0026 a0001c0001t0039 a0001c0001t0060 a0001c0001t0064 a0001c0001t0073 a0001c0001t0074 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0007g0001 a0001c0001t0011g0001 others(7): Show a0001c0001t0001g0001 a0001c0001t0007g0001 a0001c0001t0011g0001 a0001c0001t0026g0001 a0001c0001t0039g0001 a0001c0001t0060g0001 a0001c0001t0064g0001 a0001c0001t0073g0001 a0001c0001t0074g0001 a0001c0003t0001g0001	98	452	0.2168	11	c.-43 others(22): Show c.-4350_-4349insTCAAACTTTCA	ALG10B	ENSG00000175548.9	transcript	ENST00000308742.9	protein_coding		4229		chr12	TogoVar
ALG10B_chr12_38311774_38334721	38333798	T T	TGTGTGTG others(4): Show TGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG02071.hp2 NA19030.hp2 HG00558.hp1 HG02071.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0024 a0001c0002t0002 a0001c0002t0023 a0001c0001t0024 a0001c0002t0002 a0001c0002t0023	a0001c0001t0024g0002 a0001c0002t0002g0003 a0001c0002t0023g0003 a0001c0001t0024g0002 a0001c0002t0002g0003 a0001c0002t0023g0003	3	452	0.0066	11	c.12 others(24): Show c.12585_*12586insGTGTGTGTGTG	ALG10B	ENSG00000175548.9	transcript	ENST00000308742.9	protein_coding		4078		chr12	TogoVar
ALG10_chr12_34017496_34033302	34029736	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG04115.hp1 NA20805.hp1 HG02293.hp2 HG04115.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0004 a0001c0001t0010g0009 a0001c0001t0002g0004 a0001c0001t0010g0009	3	332	0.0090	11	c.28 others(22): Show c.2821_*2822insTTTTTTTTTTT	ALG10	ENSG00000139133.7	transcript	ENST00000266483.7	protein_coding		1435		chr12	TogoVar

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