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
AKAP6_chr14_32324298_32842684	32841964	C C	CTCCCTCC others(6): Show CTCCCTCCCTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02280.hp1 HG02280.hp2 others(4): Show HG02055.hp1 HG02280.hp1 HG02280.hp2 HG02559.hp2 HG02809.hp2 HG03540.hp2 NA19240.hp1	a0001 a0003 a0019 others(2): Show a0001 a0003 a0019 a0024 a0027	a0001c0001 a0001c0004 a0001c0006 others(4): Show a0001c0001 a0001c0004 a0001c0006 a0003c0003 a0019c0039 a0024c0042 a0027c0030	a0001c0001t0001 a0001c0004t0007 a0001c0006t0015 others(4): Show a0001c0001t0001 a0001c0004t0007 a0001c0006t0015 a0003c0003t0045 a0019c0039t0023 a0024c0042t0015 a0027c0030t0001	a0001c0001t0001g0049 a0001c0004t0007g0020 a0001c0006t0015g0135 others(4): Show a0001c0001t0001g0049 a0001c0004t0007g0020 a0001c0006t0015g0135 a0003c0003t0045g0107 a0019c0039t0023g0142 a0024c0042t0015g0151 a0027c0030t0001g0154	7	154	0.0455	13	c.12 others(26): Show c.12159_*12160insTCCCTCCCTCCTT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding		4281		chr14	TogoVar
AKAP7_chr6_131130467_131288532	131161644	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01192.hp1 HG01192.hp2 others(3): Show HG01106.hp1 HG01192.hp1 HG01192.hp2 HG02698.hp1 HG02717.hp1 HG03492.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0002c0002t0001	a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0154 others(3): Show a0001c0001t0001g0084 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0002g0287 a0001c0001t0010g0185 a0002c0002t0001g0027	6	304	0.0197	13	c.291 others(30): Show c.291+1474_291+1486dupAAAAAAAAAAAAA	AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
AKAP7_chr6_131130467_131288532	131207491	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01516.hp1 HG01884.hp1 others(9): Show HG00597.hp1 HG01516.hp1 HG01884.hp1 HG01943.hp1 NA18612.hp1 NA18942.hp1 NA18943.hp2 NA18986.hp1 NA19002.hp2 NA19004.hp1 NA19078.hp1 NA19080.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0006 a0002c0002t0001 others(1): Show a0001c0001t0004 a0001c0001t0006 a0002c0002t0001 a0002c0002t0015	a0001c0001t0004g0026 a0001c0001t0004g0035 a0001c0001t0004g0036 others(9): Show a0001c0001t0004g0026 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0039 a0001c0001t0004g0206 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0006g0295 a0001c0001t0006g0296 a0002c0002t0001g0114 a0002c0002t0015g0008	12	304	0.0395	13	c.702 others(30): Show c.702+7932_702+7944dupTTTTTTTTTTTTT	AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
AKAP8L_chr19_15375050_15423988	15392896	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00544.hp2 others(164): Show HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18960.hp1 NA18960.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19074.hp1 NA19074.hp2 NA19082.hp1 NA19082.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0005 a0003c0008 others(1): Show a0001c0001 a0002c0005 a0003c0008 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0002c0005t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0005t0001 a0003c0008t0001 a0004c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(157): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0211 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0002g0236 a0002c0005t0001g0079 a0003c0008t0001g0091 a0004c0004t0001g0101	167	254	0.6575	13	c.153 others(32): Show c.1536+4241_1536+4253dupTTTTTTTTTTTTT	AKAP8L	ENSG00000011243.19	transcript	ENST00000397410.10	protein_coding	12/13			chr19	TogoVar
AKAP9_chr7_91935862_92115673	92012973	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0155 a0005c0005t0001g0155	1	306	0.0033	13	c.353 others(30): Show c.3532+355_3532+367dupTTTTTTTTTTTTT	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(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02647.hp1 HG00609.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0187 a0001c0001t0001g0149 a0001c0001t0001g0187	2	426	0.0047	13	c.220 others(30): Show c.220+3094_220+3106dupTTTTTTTTTTTTT	AKIRIN1	ENSG00000174574.16	transcript	ENST00000432648.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
AKIRIN2_chr6_87669860_87707233	87670463	G G	GCCCGCCC others(6): Show GCCCGCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	406	0.0025	13	c.51 others(24): Show c.5133_*5134insGGGGGGGGGCGGG	AKIRIN2	ENSG00000135334.9	transcript	ENST00000257787.6	protein_coding		4396		chr6	TogoVar
AKR1A1_chr1_45545826_45575049	45549000	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01106.hp2 HG02273.hp2 others(4): Show HG00741.hp1 HG01106.hp2 HG02273.hp2 HG02976.hp2 NA18989.hp1 NA18989.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0006 a0001c0001t0001g0033 a0001c0001t0001g0042 others(4): Show a0001c0001t0001g0006 a0001c0001t0001g0033 a0001c0001t0001g0042 a0001c0001t0001g0140 a0001c0001t0001g0157 a0001c0001t0001g0173 a0001c0001t0002g0012	7	352	0.0199	13	c.-21 others(24): Show c.-2162_-2161insTTTTTTTTTTTTT	AKR1A1	ENSG00000117448.14	transcript	ENST00000351829.9	protein_coding		1825		chr1	TogoVar
AKR1A1_chr1_45545826_45575049	45557912	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG01175.hp1 others(27): Show HG00639.hp1 HG00642.hp1 HG01175.hp1 HG01346.hp1 HG01891.hp2 HG01928.hp2 HG02055.hp1 HG02129.hp2 HG02257.hp2 HG02300.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp2 HG02717.hp1 HG02818.hp1 HG03139.hp1 HG03195.hp2 HG03540.hp1 HG03710.hp2 NA18906.hp1 NA18967.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA19000.hp2 NA19043.hp2 NA19055.hp2 NA19079.hp1 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0004c0006t0002 a0001c0001t0001 a0001c0001t0002 a0004c0006t0002	a0001c0001t0001g0141 a0001c0001t0002g0005 a0001c0001t0002g0039 others(20): Show a0001c0001t0001g0141 a0001c0001t0002g0005 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0072 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0126 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0004c0006t0002g0204	30	352	0.0852	13	c.-6- others(28): Show c.-6-3874_-6-3862dupTTTTTTTTTTTTT	AKR1A1	ENSG00000117448.14	transcript	ENST00000351829.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
AKR1A1_chr1_45545826_45575049	45571542	A A	AGCCACTG others(6): Show AGCCACTGCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 NA18940.hp2 NA18944.hp1 others(13): Show HG00544.hp1 NA18940.hp2 NA18944.hp1 NA18959.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18974.hp2 NA18984.hp1 NA18986.hp1 NA19000.hp1 NA19006.hp1 NA19007.hp2 NA19067.hp1 NA19082.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0001g0031 a0001c0001t0001g0127 others(8): Show a0001c0001t0001g0007 a0001c0001t0001g0031 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0002g0070 a0001c0001t0002g0200	16	352	0.0455	13	c.15 others(24): Show c.1586_*1587insGCCACTGCACCCG	AKR1A1	ENSG00000117448.14	transcript	ENST00000351829.9	protein_coding		1494		chr1	TogoVar
AKR1C3_chr10_5089414_5112686	5108382	G G	GCATATGT others(6): Show GCATATGTGTACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG03471.hp1 HG02451.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0060 a0001c0001t0002g0043 a0001c0001t0002g0060	2	438	0.0046	13	c.87 others(22): Show c.879_*880insCATATGTGTACAA	AKR1C3	ENSG00000196139.14	transcript	ENST00000380554.5	protein_coding		697		chr10	TogoVar
AKR1C4_chr10_5191837_5223949	5221401	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG03195.hp1 HG01069.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0011 a0001c0003t0001g0091 a0001c0001t0001g0011 a0001c0003t0001g0091	2	434	0.0046	13	c.26 others(24): Show c.2641_*2642insAAAAAAAAAAAAA	AKR1C4	ENSG00000198610.11	transcript	ENST00000263126.3	protein_coding		2453		chr10	TogoVar
AKR1D1_chr7_138071459_138123305	138100088	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG03041.hp2 NA18939.hp2 HG02056.hp2 HG03041.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0037 a0001c0001t0003 a0001c0001t0008 a0001c0001t0037	a0001c0001t0003g0083 a0001c0001t0008g0068 a0001c0001t0037g0061 a0001c0001t0003g0083 a0001c0001t0008g0068 a0001c0001t0037g0061	3	426	0.0070	13	c.456 others(30): Show c.456+2163_456+2175dupAAAAAAAAAAAAA	AKR1D1	ENSG00000122787.15	transcript	ENST00000242375.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
AKT3_chr1_243494724_243855243	243525771	G G	GAAAGAAA others(6): Show GAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0176 a0001c0001t0006g0176	1	301	0.0033	13	c.125 others(34): Show c.1252-13358_1252-13346dupTCTTTCTTTCTTT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243525787	G G	GAAAGAAA others(6): Show GAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0005 a0001c0001t0023g0005	1	301	0.0033	13	c.125 others(34): Show c.1252-13374_1252-13362dupTCTTTCTTTCTTT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ALAD_chr9_113381312_113406284	113383541	C C	CTTTCTTT others(6): Show CTTTCTTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0207 a0003c0011t0001g0207	1	446	0.0022	13	c.47 others(24): Show c.4758_*4759insAGAAAGAAAGAAA	ALAD	ENSG00000148218.16	transcript	ENST00000409155.8	protein_coding		2770		chr9	TogoVar
ALCAM_chr3_105361909_105581900	105563667	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01934.hp1 HG02132.hp1 others(2): Show HG00673.hp1 HG01934.hp1 HG02132.hp1 HG02155.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0003 a0001c0002t0017 a0001c0001t0004 a0001c0002t0003 a0001c0002t0017	a0001c0001t0004g0170 a0001c0002t0003g0027 a0001c0002t0003g0264 others(2): Show a0001c0001t0004g0170 a0001c0002t0003g0027 a0001c0002t0003g0264 a0001c0002t0003g0369 a0001c0002t0017g0054	5	378	0.0132	13	c.166 others(32): Show c.1665-8166_1665-8154dupTTTTTTTTTTTTT	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ALDH18A1_chr10_95600941_95661711	95609769	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00642.hp2 HG01243.hp2 others(31): Show HG00597.hp1 HG00642.hp2 HG01243.hp2 HG01261.hp2 HG01433.hp1 HG01517.hp2 HG01884.hp1 HG02257.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02683.hp2 HG02886.hp2 HG03239.hp2 HG03490.hp2 HG03710.hp2 HG03834.hp1 HG04184.hp1 HG04228.hp2 NA18946.hp2 NA18950.hp1 NA18962.hp1 NA18966.hp1 NA18967.hp2 NA18970.hp2 NA18977.hp1 NA18980.hp1 NA18988.hp2 NA19000.hp1 NA19001.hp2 NA19003.hp2 NA19066.hp1 NA19088.hp2 NA20805.hp2	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0001c0004 a0001c0012 others(3): Show a0001c0001 a0001c0004 a0001c0012 a0001c0013 a0004c0017 a0008c0016	a0001c0001t0001 a0001c0004t0001 a0001c0012t0001 others(3): Show a0001c0001t0001 a0001c0004t0001 a0001c0012t0001 a0001c0013t0001 a0004c0017t0012 a0008c0016t0001	a0001c0001t0001g0012 a0001c0001t0001g0048 a0001c0001t0001g0067 others(26): Show a0001c0001t0001g0012 a0001c0001t0001g0048 a0001c0001t0001g0067 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0004t0001g0030 a0001c0004t0001g0076 a0001c0004t0001g0080 a0001c0004t0001g0108 a0001c0012t0001g0243 a0001c0013t0001g0252 a0004c0017t0012g0249 a0008c0016t0001g0116	34	372	0.0914	13	c.220 others(30): Show c.2206+415_2206+427dupAAAAAAAAAAAAA	ALDH18A1	ENSG00000059573.9	transcript	ENST00000371224.7	protein_coding	17/17			chr10	TogoVar
ALDH1A2_chr15_57948429_58070711	58023658	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0297 a0002c0002t0003g0297	1	326	0.0031	13	c.118 others(30): Show c.118-9378_118-9377insTTTTTTTTTTTTT	ALDH1A2	ENSG00000128918.15	transcript	ENST00000249750.9	protein_coding	1/12			chr15	TogoVar
ALDH1A2_chr15_57948429_58070711	58023658	G G	GGAAAAAA others(6): Show GGAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	326	0.0031	13	c.118 others(30): Show c.118-9378_118-9377insTTTTTTTTTTTTC	ALDH1A2	ENSG00000128918.15	transcript	ENST00000249750.9	protein_coding	1/12			chr15	TogoVar
ALDH1A2_chr15_57948429_58070711	58061595	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0133 a0002c0002t0002g0133	1	326	0.0031	13	c.117 others(30): Show c.117+3926_117+3938dupTTTTTTTTTTTTT	ALDH1A2	ENSG00000128918.15	transcript	ENST00000249750.9	protein_coding	1/12			chr15	TogoVar
ALDH1L2_chr12_105014790_105089458	105064114	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0022 a0001c0001t0013g0022	1	386	0.0026	13	c.787 others(30): Show c.787-1105_787-1093dupAAAAAAAAAAAAA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	6/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01517.hp2 NA18941.hp2 HG01517.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0010 a0001c0001t0003 a0001c0002t0010	a0001c0001t0003g0119 a0001c0002t0010g0196 a0001c0001t0003g0119 a0001c0002t0010g0196	2	386	0.0052	13	c.194 others(28): Show c.194-839_194-838insATATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(6): Show ATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG04184.hp2 HG02965.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0029 a0001c0002t0002 a0001c0001t0029 a0001c0002t0002	a0001c0001t0029g0152 a0001c0002t0002g0220 a0001c0001t0029g0152 a0001c0002t0002g0220	2	386	0.0052	13	c.194 others(28): Show c.194-839_194-838insAAATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(6): Show ATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA18979.hp1 NA18985.hp2 others(1): Show HG01496.hp2 NA18979.hp1 NA18985.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0020 a0001c0006t0003 a0001c0001t0001 a0001c0001t0020 a0001c0006t0003	a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0020g0100 others(1): Show a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0020g0100 a0001c0006t0003g0099	4	386	0.0104	13	c.194 others(28): Show c.194-839_194-838insAAAAATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071643	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02109.hp1 HG02630.hp2 HG02040.hp1 HG02109.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0015 a0001c0001t0003 a0001c0001t0005 a0001c0001t0015	a0001c0001t0003g0203 a0001c0001t0005g0153 a0001c0001t0015g0009 a0001c0001t0003g0203 a0001c0001t0005g0153 a0001c0001t0015g0009	3	386	0.0078	13	c.194 others(28): Show c.194-840_194-839insTATATATATATAT	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105074457	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA19240.hp2 HG02486.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0021 a0001c0001t0013g0023 a0001c0001t0001g0021 a0001c0001t0013g0023	2	386	0.0052	13	c.49- others(26): Show c.49-453_49-452insTTTTTTTTTTTTT	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	1/22			chr12	TogoVar
ALDH5A1_chr6_24489969_24542207	24506243	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA18980.hp2 HG02602.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0226 a0001c0001t0001g0227	2	368	0.0054	13	c.726 others(30): Show c.726+1276_726+1288dupTTTTTTTTTTTTT	ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
ALDH5A1_chr6_24489969_24542207	24508361	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03486.hp2 HG03490.hp2 others(1): Show HG01884.hp1 HG03486.hp2 HG03490.hp2 NA19030.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0003 a0003c0003t0001 a0002c0002t0003 a0003c0003t0001	a0002c0002t0003g0118 a0002c0002t0003g0341 a0002c0002t0003g0344 others(1): Show a0002c0002t0003g0118 a0002c0002t0003g0341 a0002c0002t0003g0344 a0003c0003t0001g0016	4	368	0.0109	13	c.726 others(30): Show c.726+3391_726+3403dupAAAAAAAAAAAAA	ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
ALDH7A1_chr5_126536841_126600219	126571150	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02615.hp2 HG02723.hp1 HG02258.hp1 HG02615.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0012 a0001c0001t0022 a0001c0004t0014 a0001c0001t0012 a0001c0001t0022 a0001c0004t0014	a0001c0001t0012g0368 a0001c0001t0022g0367 a0001c0004t0014g0128 a0001c0001t0012g0368 a0001c0001t0022g0367 a0001c0004t0014g0128	3	380	0.0079	13	c.696 others(28): Show c.696-304_696-292dupAAAAAAAAAAAAA	ALDH7A1	ENSG00000164904.18	transcript	ENST00000409134.8	protein_coding	7/17			chr5	TogoVar
ALG10B_chr12_38311774_38334721	38333798	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 NA18940.hp2 NA19012.hp2 HG02074.hp1 NA18940.hp2 NA19012.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0008 a0001c0002t0002 a0001c0002t0008	a0001c0002t0002g0003 a0001c0002t0008g0003 a0001c0002t0008g0008 a0001c0002t0002g0003 a0001c0002t0008g0003 a0001c0002t0008g0008	3	452	0.0066	13	c.12 others(26): Show c.12585_*12586insGTGTGTGTGTGTG	ALG10B	ENSG00000175548.9	transcript	ENST00000308742.9	protein_coding		4078		chr12	TogoVar
ALG1L2_chr3_130076831_130103390	130080282	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00558.hp2 others(30): Show HG00323.hp2 HG00438.hp2 HG00558.hp2 HG01106.hp2 HG01358.hp2 HG02080.hp1 HG02080.hp2 HG02486.hp2 HG02615.hp2 HG02738.hp2 HG02922.hp2 HG02970.hp2 HG03225.hp2 NA18939.hp1 NA18959.hp1 NA18964.hp1 NA18967.hp1 NA18981.hp2 NA18985.hp2 NA18986.hp1 NA19005.hp1 NA19005.hp2 NA19043.hp2 NA19054.hp1 NA19062.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19088.hp2 NA19091.hp1 NA19240.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0008 a0001c0018 others(2): Show a0001c0001 a0001c0008 a0001c0018 a0002c0002 a0004c0010	a0001c0001t0001 a0001c0008t0001 a0001c0018t0001 others(2): Show a0001c0001t0001 a0001c0008t0001 a0001c0018t0001 a0002c0002t0001 a0004c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(27): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0086 a0001c0001t0001g0091 a0001c0001t0001g0100 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0008t0001g0078 a0001c0018t0001g0090 a0002c0002t0001g0008 a0002c0002t0001g0020 a0002c0002t0001g0067 a0002c0002t0001g0071 a0004c0010t0001g0025	33	261	0.1264	13	c.-17 others(24): Show c.-1735_-1734insTTTTTTTTTTTTT	ALG1L2	ENSG00000251287.9	transcript	ENST00000425059.1	protein_coding		1548		chr3	TogoVar
ALG6_chr1_63362627_63443553	63379459	G G	GAGATAGT others(6): Show GAGATAGTATTTTA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	388	0.0026	13	c.82+ others(28): Show c.82+8400_82+8401insAGATAGTATTTTA	ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	2/14			chr1	TogoVar
ALG8_chr11_78095946_78144626	78129052	A A	AAGCTGAG others(6): Show AAGCTGAGATTGAT	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	402	0.0025	13	c.96- others(28): Show c.96-1617_96-1616insATCAATCTCAGCT	ALG8	ENSG00000159063.14	transcript	ENST00000299626.10	protein_coding	1/12			chr11	TogoVar
ALG8_chr11_78095946_78144626	78130348	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	402	0.0025	13	c.96- others(28): Show c.96-2925_96-2913dupTTTTTTTTTTTTT	ALG8	ENSG00000159063.14	transcript	ENST00000299626.10	protein_coding	1/12			chr11	TogoVar
ALG8_chr11_78095946_78144626	78143317	A A	ACACACAC others(6): Show ACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG02523.hp1 NA19086.hp1 others(1): Show HG00280.hp2 HG02523.hp1 NA19086.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0272 a0001c0001t0001g0294 others(1): Show a0001c0001t0001g0260 a0001c0001t0001g0272 a0001c0001t0001g0294 a0001c0001t0001g0317	4	402	0.0100	13	c.-37 others(24): Show c.-3730_-3729insGTGTGTGTGTGTG	ALG8	ENSG00000159063.14	transcript	ENST00000299626.10	protein_coding		3692		chr11	TogoVar
ALK_chr2_29187774_29926586	29203485	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03209.hp2 HG01123.hp1 HG03209.hp2	a0002 a0002	a0002c0018 a0002c0047 a0002c0018 a0002c0047	a0002c0018t0001 a0002c0047t0001 a0002c0018t0001 a0002c0047t0001	a0002c0018t0001g0008 a0002c0047t0001g0055 a0002c0018t0001g0008 a0002c0047t0001g0055	2	80	0.0250	13	c.393 others(32): Show c.3938+3673_3938+3685dupAAAAAAAAAAAAA	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	26/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29288951	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0006 a0003c0010t0006	a0003c0010t0006g0002 a0003c0010t0006g0002	1	80	0.0125	13	c.181 others(32): Show c.1817+7936_1817+7937insTTTTTTTTTTTTT	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	9/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29396836	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01109.hp2 HG01106.hp1 HG01109.hp2	a0001 a0004 a0001 a0004	a0001c0053 a0004c0045 a0001c0053 a0004c0045	a0001c0053t0001 a0004c0045t0002 a0001c0053t0001 a0004c0045t0002	a0001c0053t0001g0070 a0004c0045t0002g0043 a0001c0053t0001g0070 a0004c0045t0002g0043	2	80	0.0250	13	c.115 others(34): Show c.1155-12990_1155-12978dupAAAAAAAAAAAAA	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	4/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29637709	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01891.hp2 HG02451.hp1 others(10): Show HG01123.hp2 HG01891.hp2 HG02451.hp1 HG02622.hp2 HG02895.hp1 HG03041.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 NA18906.hp2 NA19043.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0004 a0001c0006 a0001c0017 others(7): Show a0001c0004 a0001c0006 a0001c0017 a0001c0039 a0001c0040 a0001c0050 a0002c0008 a0002c0028 a0002c0047 a0004c0002	a0001c0004t0001 a0001c0006t0001 a0001c0006t0007 others(8): Show a0001c0004t0001 a0001c0006t0001 a0001c0006t0007 a0001c0017t0001 a0001c0039t0013 a0001c0040t0001 a0001c0050t0014 a0002c0008t0001 a0002c0028t0001 a0002c0047t0001 a0004c0002t0003	a0001c0004t0001g0021 a0001c0004t0001g0037 a0001c0006t0001g0026 others(10): Show a0001c0004t0001g0021 a0001c0004t0001g0037 a0001c0006t0001g0026 a0001c0006t0007g0056 a0001c0017t0001g0012 a0001c0039t0013g0079 a0001c0040t0001g0022 a0001c0050t0014g0078 a0002c0008t0001g0049 a0002c0028t0001g0014 a0002c0047t0001g0055 a0004c0002t0003g0025 a0004c0002t0003g0057	13	80	0.1625	13	c.952 others(32): Show c.952+57128_952+57140dupTTTTTTTTTTTTT	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	3/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29787824	G G	GTCCCAAC others(6): Show GTCCCAACCAAATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0002 a0003c0015t0002	a0003c0015t0002g0010 a0003c0015t0002g0010	1	80	0.0125	13	c.668 others(32): Show c.668-70128_668-70127insTATTTGGTTGGGA	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
ALK_chr2_29187774_29926586	29830713	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0003 a0004c0002t0003	a0004c0002t0003g0025 a0004c0002t0003g0025	1	80	0.0125	13	c.667 others(32): Show c.667+89267_667+89279dupTTTTTTTTTTTTT	ALK	ENSG00000171094.18	transcript	ENST00000389048.8	protein_coding	1/28			chr2	TogoVar
ALLC_chr2_3653200_3707671	3690306	T T	TCCCCCTC others(6): Show TCCCCCTCCCCCTC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	274	0.0037	13	c.512 others(30): Show c.512-5401_512-5400insCTCCCCCCTCCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALLC_chr2_3653200_3707671	3690438	T T	TCCCCTCC others(6): Show TCCCCTCCCCCTCC	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0047 a0003c0003t0001g0047	1	274	0.0037	13	c.512 others(30): Show c.512-5270_512-5269insCTCCCCCCTCCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73393164	A A	AATTCTTT others(6): Show AATTCTTTATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01099.hp2 HG01884.hp2 others(17): Show HG00735.hp1 HG01099.hp2 HG01884.hp2 HG01891.hp1 HG02145.hp1 HG02451.hp2 HG02572.hp2 HG02630.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp2	a0006 a0008 a0026 others(2): Show a0006 a0008 a0026 a0027 a0028	a0006c0007 a0006c0010 a0008c0008 others(3): Show a0006c0007 a0006c0010 a0008c0008 a0026c0057 a0027c0032 a0028c0033	a0006c0007t0001 a0006c0010t0001 a0008c0008t0001 others(3): Show a0006c0007t0001 a0006c0010t0001 a0008c0008t0001 a0026c0057t0001 a0027c0032t0001 a0028c0033t0001	a0006c0007t0001g0098 a0006c0007t0001g0099 a0006c0007t0001g0100 others(17): Show a0006c0007t0001g0098 a0006c0007t0001g0099 a0006c0007t0001g0100 a0006c0007t0001g0101 a0006c0007t0001g0102 a0006c0007t0001g0228 a0006c0007t0001g0229 a0006c0010t0001g0096 a0006c0010t0001g0097 a0006c0010t0001g0103 a0006c0010t0001g0104 a0008c0008t0001g0231 a0008c0008t0001g0232 a0008c0008t0001g0233 a0008c0008t0001g0234 a0008c0008t0001g0235 a0008c0008t0001g0237 a0026c0057t0001g0105 a0027c0032t0001g0236 a0028c0033t0001g0238	20	248	0.0807	13	c.324 others(30): Show c.324+6975_324+6987dupTCTTTATATATAT	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73404899	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02965.hp2 HG03195.hp2 HG00735.hp1 HG02965.hp2 HG03195.hp2	a0008 a0027 a0008 a0027	a0008c0008 a0027c0032 a0008c0008 a0027c0032	a0008c0008t0001 a0027c0032t0001 a0008c0008t0001 a0027c0032t0001	a0008c0008t0001g0235 a0008c0008t0001g0237 a0027c0032t0001g0236 a0008c0008t0001g0235 a0008c0008t0001g0237 a0027c0032t0001g0236	3	248	0.0121	13	c.325 others(30): Show c.325-3705_325-3693dupTTTTTTTTTTTTT	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73414474	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTGG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02895.hp2 HG02897.hp1 others(1): Show HG01256.hp1 HG02895.hp2 HG02897.hp1 NA18998.hp1	a0001 a0006 a0054 a0001 a0006 a0054	a0001c0001 a0006c0007 a0054c0069 a0001c0001 a0006c0007 a0054c0069	a0001c0001t0001 a0006c0007t0001 a0054c0069t0001 a0001c0001t0001 a0006c0007t0001 a0054c0069t0001	a0001c0001t0001g0141 a0006c0007t0001g0228 a0006c0007t0001g0229 others(1): Show a0001c0001t0001g0141 a0006c0007t0001g0228 a0006c0007t0001g0229 a0054c0069t0001g0162	4	248	0.0161	13	c.451 others(30): Show c.451-4638_451-4637insGGTTTTTTTTTTT	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73414475	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTGG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	248	0.0040	13	c.451 others(30): Show c.451-4637_451-4636insGGTTTTTTTTTTT	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73517246	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG01109.hp1 others(42): Show HG00280.hp2 HG00323.hp1 HG01109.hp1 HG01243.hp2 HG01256.hp2 HG01975.hp1 HG02258.hp1 HG02300.hp2 HG02451.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02970.hp1 HG03098.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp1 HG03669.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18952.hp1 NA19000.hp1 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19240.hp1 NA20129.hp2 NA20752.hp1	a0002 a0003 a0004 others(13): Show a0002 a0003 a0004 a0009 a0010 a0011 a0014 a0020 a0029 a0031 a0033 a0035 a0036 a0037 a0044 a0045	a0002c0004 a0002c0011 a0002c0023 others(23): Show a0002c0004 a0002c0011 a0002c0023 a0002c0041 a0002c0052 a0002c0054 a0003c0002 a0004c0003 a0004c0043 a0009c0013 a0009c0026 a0010c0009 a0011c0022 a0011c0024 a0011c0048 a0014c0021 a0014c0039 a0020c0019 a0029c0056 a0031c0042 a0033c0055 a0035c0050 a0036c0045 a0037c0044 a0044c0064 a0045c0063	a0002c0004t0001 a0002c0011t0001 a0002c0023t0001 others(23): Show a0002c0004t0001 a0002c0011t0001 a0002c0023t0001 a0002c0041t0001 a0002c0052t0001 a0002c0054t0001 a0003c0002t0001 a0004c0003t0002 a0004c0043t0002 a0009c0013t0001 a0009c0026t0001 a0010c0009t0001 a0011c0022t0001 a0011c0024t0001 a0011c0048t0001 a0014c0021t0001 a0014c0039t0001 a0020c0019t0002 a0029c0056t0002 a0031c0042t0002 a0033c0055t0001 a0035c0050t0001 a0036c0045t0002 a0037c0044t0002 a0044c0064t0001 a0045c0063t0001	a0002c0004t0001g0033 a0002c0004t0001g0051 a0002c0004t0001g0052 others(42): Show a0002c0004t0001g0033 a0002c0004t0001g0051 a0002c0004t0001g0052 a0002c0004t0001g0239 a0002c0004t0001g0247 a0002c0011t0001g0006 a0002c0011t0001g0041 a0002c0011t0001g0042 a0002c0023t0001g0196 a0002c0041t0001g0094 a0002c0052t0001g0040 a0002c0054t0001g0193 a0003c0002t0001g0028 a0004c0003t0002g0072 a0004c0003t0002g0074 a0004c0003t0002g0076 a0004c0003t0002g0077 a0004c0003t0002g0080 a0004c0003t0002g0088 a0004c0043t0002g0082 a0009c0013t0001g0240 a0009c0013t0001g0242 a0009c0013t0001g0244 a0009c0013t0001g0245 a0009c0026t0001g0241 a0009c0026t0001g0243 a0010c0009t0001g0168 a0011c0022t0001g0199 a0011c0022t0001g0200 a0011c0024t0001g0194 a0011c0024t0001g0198 a0011c0048t0001g0197 a0014c0021t0001g0043 a0014c0021t0001g0044 a0014c0039t0001g0045 a0020c0019t0002g0075 a0020c0019t0002g0090 a0029c0056t0002g0087 a0031c0042t0002g0089 a0033c0055t0001g0201 a0035c0050t0001g0246 a0036c0045t0002g0062 a0037c0044t0002g0079 a0044c0064t0001g0049 a0045c0063t0001g0191	45	248	0.1815	13	c.954 others(32): Show c.9540-2524_9540-2512dupTTTTTTTTTTTTT	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	10/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALMS1_chr2_73380836_73614916	73579063	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0040 a0040	a0040c0036 a0040c0036	a0040c0036t0001 a0040c0036t0001	a0040c0036t0001g0027 a0040c0036t0001g0027	1	248	0.0040	13	c.115 others(34): Show c.11547+5646_11547+5647insTTTTTTTTTTTTT	ALMS1	ENSG00000116127.20	transcript	ENST00000613296.6	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr2	TogoVar

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