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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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
ASAP1_chr8_130047104_130448674	130391146	TTGAGGAC others(19): Show TTGAGGACATTATGTTAAGTAAGGCAG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00738.hp2 HG01175.hp2 others(19): Show HG00423.hp2 HG00738.hp2 HG01175.hp2 HG01256.hp1 HG01496.hp1 HG01496.hp2 HG01943.hp2 HG02004.hp1 HG02040.hp1 HG02280.hp1 HG02300.hp2 HG02723.hp1 HG03017.hp2 HG03195.hp2 HG06807.hp2 NA18906.hp2 NA18942.hp2 NA18985.hp1 NA19007.hp1 NA19010.hp2 NA19074.hp1 NA20805.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0012 a0001c0001 a0002c0003 a0004c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0012 a0002c0003t0001 a0002c0003t0010 a0004c0012t0027	a0001c0001t0001g0108 a0001c0001t0002g0024 a0001c0001t0002g0027 others(19): Show a0001c0001t0001g0108 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0009g0005 a0001c0001t0009g0006 a0001c0001t0009g0007 a0001c0001t0009g0008 a0001c0001t0012g0295 a0001c0001t0012g0296 a0001c0001t0012g0298 a0002c0003t0001g0019 a0002c0003t0001g0022 a0002c0003t0001g0023 a0002c0003t0001g0025 a0002c0003t0001g0026 a0002c0003t0001g0028 a0002c0003t0001g0029 a0002c0003t0001g0030 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0010g0018 a0004c0012t0027g0233	22	308	0.0714	-26	c.59+ others(43): Show c.59+10713_59+10738delCTGCCTTACTTAACATAATGTCCTCA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	2/29			chr8	TogoVar
ASB15_chr7_123596821_123644481	123620507	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01928.hp1 HG01261.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0028 a0001c0001t0027 a0001c0001t0028	a0001c0001t0027g0029 a0001c0001t0028g0036 a0001c0001t0027g0029 a0001c0001t0028g0036	2	380	0.0053	-26	c.451 others(43): Show c.451+2793_451+2818delATATATATATATATATATATATATAT	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123620532	ATATATAT others(19): Show ATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0249 a0003c0005t0002g0249	1	380	0.0026	-26	c.451 others(43): Show c.451+2797_451+2822delATATATATATATATATATATATTTTT	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123620534	ATATATAT others(19): Show ATATATATATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0043 a0001c0002t0043	a0001c0002t0043g0103 a0001c0002t0043g0103	1	380	0.0026	-26	c.451 others(43): Show c.451+2799_451+2824delATATATATATATATATATATTTTTTT	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123620536	ATATATAT others(19): Show ATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0049 a0001c0002t0049	a0001c0002t0049g0107 a0001c0002t0049g0107	1	380	0.0026	-26	c.451 others(43): Show c.451+2801_451+2826delATATATATATATATATATTTTTTTTT	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123620538	ATATATAT others(19): Show ATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA19030.hp1 HG02559.hp2 NA19030.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0007c0010 a0001c0002 a0007c0010	a0001c0002t0001 a0007c0010t0025 a0001c0002t0001 a0007c0010t0025	a0001c0002t0001g0121 a0007c0010t0025g0127 a0001c0002t0001g0121 a0007c0010t0025g0127	2	380	0.0053	-26	c.451 others(43): Show c.451+2803_451+2828delATATATATATATATATTTTTTTTTTT	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB2_chr14_93929166_93981570	93972208	GTTCCTTG others(19): Show GTTCCTTGGCACCCAGGGCGCTCGACC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(172): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp2 HG01884.hp1 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03831.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18967.hp2 NA18968.hp1 NA18975.hp2 NA18979.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp2 NA19064.hp2 NA19066.hp1 NA19074.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0020 a0002c0010 a0002c0011 a0003c0004 a0004c0006 a0005c0007 a0007c0023 a0008c0021 a0009c0012 a0011c0014 a0012c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0008t0002 a0001c0020t0001 a0002c0010t0004 a0002c0011t0001 a0003c0004t0001 a0004c0006t0003 a0005c0007t0001 a0007c0023t0001 a0008c0021t0001 a0009c0012t0002 a0011c0014t0001 a0012c0017t0003	a0001c0001t0001g0020 a0001c0001t0001g0041 a0001c0001t0001g0042 others(164): Show a0001c0001t0001g0020 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0282 a0001c0001t0001g0286 a0001c0001t0002g0001 a0001c0001t0002g0024 a0001c0001t0002g0072 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0002g0133 a0001c0001t0002g0140 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0160 a0001c0001t0002g0166 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0178 a0001c0001t0002g0185 a0001c0001t0002g0193 a0001c0001t0002g0203 a0001c0001t0002g0207 a0001c0001t0002g0214 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0005g0019 a0001c0002t0001g0025 a0001c0002t0001g0027 a0001c0002t0001g0123 a0001c0002t0001g0132 a0001c0002t0001g0137 a0001c0002t0001g0217 a0001c0002t0002g0015 a0001c0002t0002g0026 a0001c0002t0002g0045 a0001c0002t0002g0047 a0001c0002t0002g0113 a0001c0002t0002g0115 a0001c0002t0002g0122 a0001c0002t0002g0124 a0001c0002t0002g0135 a0001c0002t0002g0141 a0001c0002t0002g0146 a0001c0002t0002g0147 a0001c0002t0002g0151 a0001c0002t0002g0154 a0001c0002t0002g0158 a0001c0002t0002g0162 a0001c0002t0002g0177 a0001c0002t0002g0189 a0001c0002t0002g0191 a0001c0002t0002g0196 a0001c0002t0002g0201 a0001c0002t0002g0209 a0001c0002t0002g0212 a0001c0002t0002g0346 a0001c0003t0001g0002 a0001c0003t0001g0008 a0001c0003t0001g0046 a0001c0003t0001g0048 a0001c0003t0001g0050 a0001c0003t0001g0104 a0001c0003t0001g0105 a0001c0003t0001g0109 a0001c0003t0001g0110 a0001c0003t0001g0120 a0001c0003t0001g0125 a0001c0003t0001g0139 a0001c0003t0001g0142 a0001c0003t0001g0143 a0001c0003t0001g0145 a0001c0003t0001g0173 a0001c0003t0001g0181 a0001c0003t0001g0183 a0001c0003t0001g0195 a0001c0003t0001g0202 a0001c0003t0001g0204 a0001c0003t0001g0206 a0001c0003t0001g0213 a0001c0003t0001g0216 a0001c0003t0001g0276 a0001c0003t0001g0287 a0001c0003t0001g0288 a0001c0003t0001g0289 a0001c0003t0001g0290 a0001c0008t0002g0116 a0001c0008t0002g0156 a0001c0020t0001g0131 a0002c0010t0004g0347 a0002c0010t0004g0351 a0002c0011t0001g0348 a0002c0011t0001g0350 a0003c0004t0001g0009 a0003c0004t0001g0190 a0003c0004t0001g0194 a0004c0006t0003g0186 a0005c0007t0001g0010 a0007c0023t0001g0349 a0008c0021t0001g0208 a0009c0012t0002g0155 a0011c0014t0001g0049 a0012c0017t0003g0291	175	373	0.4692	-26	c.-74 others(43): Show c.-74+4200_-74+4225delGGTCGAGCGCCCTGGGTGCCAAGGAA	ASB2	ENSG00000100628.12	transcript	ENST00000555019.6	protein_coding	1/9			chr14	TogoVar
ASB4_chr7_95480943_95545233	95515241	TTCTTTCT others(19): Show TTCTTTCTTTCCTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03139.hp2 HG02451.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0021 a0001c0001t0004 a0001c0001t0021	a0001c0001t0004g0022 a0001c0001t0021g0018 a0001c0001t0004g0022 a0001c0001t0021g0018	2	388	0.0052	-26	c.488 others(45): Show c.488-12561_488-12536delCTTCTTTCTTTCTTTCTCTTTCTTTC	ASB4	ENSG00000005981.13	transcript	ENST00000325885.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB4_chr7_95480943_95545233	95543119	TATTTGAC others(19): Show TATTTGACTGACAAGTGGTGGGAACCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01943.hp2 HG01952.hp1 others(2): Show HG00738.hp1 HG01943.hp2 HG01952.hp1 HG01981.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 others(2): Show a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307	5	388	0.0129	-26	c.53 others(37): Show c.5361_*5386delATTTGACTGACAAGTGGTGGGAACCA	ASB4	ENSG00000005981.13	transcript	ENST00000325885.6	protein_coding		2887		chr7	TogoVar
ASCC1_chr10_72091032_72221276	72145501	GTTTAACA others(19): Show GTTTAACATCAATTCCTTAGACAGGCT	G G	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0167 a0002c0002t0001g0167	1	216	0.0046	-26	c.746 others(43): Show c.746+7342_746+7367delAGCCTGTCTAAGGAATTGATGTTAAA	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	7/9			chr10	TogoVar
ASCC1_chr10_72091032_72221276	72218165	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 NA19030.hp2 HG03579.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0157 a0001c0001t0001g0158	2	216	0.0093	-26	c.-20 others(37): Show c.-2018_-1993delATATATATATATATATATATATATAT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding		1890		chr10	TogoVar
ASCC2_chr22_29783611_29843274	29818403	TACACACA others(19): Show TACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA19012.hp2 HG03453.hp1 NA19012.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0001 a0007c0007t0004 a0001c0001t0001 a0007c0007t0004	a0001c0001t0001g0194 a0007c0007t0004g0036 a0001c0001t0001g0194 a0007c0007t0004g0036	2	372	0.0054	-26	c.542 others(43): Show c.542-2356_542-2331delGTGTGTGTGTGTGTGTGTGTGTGTGT	ASCC2	ENSG00000100325.15	transcript	ENST00000307790.8	protein_coding	5/19			chr22	TogoVar
ASCC3_chr6_100503194_100886329	100608397	CCTTATAT others(19): Show CCTTATATATATATACCTTATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02809.hp2 HG03579.hp2 HG02615.hp1 HG02809.hp2 HG03579.hp2	a0007 a0018 a0007 a0018	a0007c0012 a0007c0025 a0018c0032 a0007c0012 a0007c0025 a0018c0032	a0007c0012t0009 a0007c0025t0017 a0018c0032t0019 a0007c0012t0009 a0007c0025t0017 a0018c0032t0019	a0007c0012t0009g0312 a0007c0025t0017g0227 a0018c0032t0019g0314 a0007c0012t0009g0312 a0007c0025t0017g0227 a0018c0032t0019g0314	3	314	0.0096	-26	c.478 others(45): Show c.4786-1335_4786-1310delATATATATAAGGTATATATATATAAG	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608481	ATATATAT others(19): Show ATATATATACTTTATATATATATACTT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01346.hp2 NA18982.hp1 others(1): Show HG00544.hp2 HG01346.hp2 NA18982.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0034 a0001c0001 a0001c0034	a0001c0001t0001 a0001c0034t0001 a0001c0001t0001 a0001c0034t0001	a0001c0001t0001g0208 a0001c0001t0001g0255 a0001c0001t0001g0258 others(1): Show a0001c0001t0001g0208 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0034t0001g0257	4	314	0.0127	-26	c.478 others(45): Show c.4786-1419_4786-1394delAAGTATATATATATAAAGTATATATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608705	ATATATAT others(19): Show ATATATATATTTTATATATATATACTT	A A	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0188 a0001c0001t0004g0188	1	314	0.0032	-26	c.478 others(45): Show c.4786-1643_4786-1618delAAGTATATATATATAAAATATATATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCL5_chr1_201108943_201132184	201115609	AGCCCATG others(19): Show AGCCCATGGCGCCGCGGAACTCTGAGG	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02738.hp2 NA20752.hp1 HG02738.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0030 a0001c0001t0015g0030	2	418	0.0048	-26	c.-26 others(35): Show c.-263_-238delCCTCAGAGTTCCGCGGCGCCATGGGC	ASCL5	ENSG00000232237.5	transcript	ENST00000449188.3	protein_coding	2/2	238		chr1	TogoVar
ASDURF_chr2_189656459_189671401	189665596	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	340	0.0029	-26	c.220 others(41): Show c.220+147_220+172delGTATATATATATATATATATATATAT	ASDURF	ENSG00000286053.2	transcript	ENST00000607829.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASGR1_chr17_7168431_7184370	7175296	TACACACA others(19): Show TACACACACAACACACCTTCACCCACG	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp1 HG01891.hp1 others(11): Show HG01167.hp1 HG01243.hp1 HG01891.hp1 HG02109.hp1 HG02486.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG03130.hp2 HG03139.hp1 HG03486.hp2 HG03540.hp1 HG06807.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0005 a0001c0001 a0001c0003 a0003c0005	a0001c0001t0001 a0001c0003t0001 a0001c0003t0004 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0004 a0003c0005t0004	a0001c0001t0001g0016 a0001c0001t0001g0144 a0001c0003t0001g0098 others(6): Show a0001c0001t0001g0016 a0001c0001t0001g0144 a0001c0003t0001g0098 a0001c0003t0004g0028 a0001c0003t0004g0156 a0001c0003t0004g0157 a0001c0003t0004g0158 a0001c0003t0004g0159 a0003c0005t0004g0160	14	442	0.0317	-26	c.356 others(41): Show c.356-862_356-837delCGTGGGTGAAGGTGTGTTGTGTGTGT	ASGR1	ENSG00000141505.12	transcript	ENST00000269299.8	protein_coding	5/8			chr17	TogoVar
ASH1L_chr1_155330268_155567803	155490968	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp1 others(50): Show HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp2 HG01175.hp2 HG01192.hp1 HG01261.hp1 HG01516.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG02055.hp1 HG02083.hp1 HG02129.hp2 HG02293.hp2 HG02523.hp1 HG02683.hp2 HG02717.hp1 HG02970.hp2 HG03017.hp2 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03834.hp1 HG03834.hp2 HG04199.hp2 HG04228.hp2 NA18747.hp1 NA18939.hp2 NA18951.hp1 NA18954.hp2 NA18962.hp2 NA18964.hp2 NA18970.hp1 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19056.hp1 NA19057.hp2 NA19068.hp1 NA20129.hp1 NA20752.hp2 NA20905.hp2	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0001 a0001c0009 a0001c0016 others(2): Show a0001c0001 a0001c0009 a0001c0016 a0007c0007 a0009c0011	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(9): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0018 a0001c0001t0023 a0001c0001t0024 a0001c0009t0015 a0001c0016t0001 a0007c0007t0007 a0009c0011t0001	a0001c0001t0001g0022 a0001c0001t0001g0032 a0001c0001t0001g0039 others(50): Show a0001c0001t0001g0022 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0006g0082 a0001c0001t0008g0040 a0001c0001t0008g0137 a0001c0001t0010g0001 a0001c0001t0012g0003 a0001c0001t0018g0144 a0001c0001t0023g0159 a0001c0001t0024g0169 a0001c0009t0015g0009 a0001c0016t0001g0138 a0007c0007t0007g0130 a0009c0011t0001g0127	53	182	0.2912	-26	c.421 others(43): Show c.421-8545_421-8520delTTTTTTTTTTTTTTTTTTTTTTTTTT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	2/27			chr1	TogoVar
ASMTL_chrX_1398139_1457909	1452932	TCCCGCCT others(19): Show TCCCGCCTCCGCGAGGCCACGCCCCCG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG03486.hp1 HG06807.hp2 HG02683.hp2 HG03486.hp1 HG06807.hp2	a0002 a0013 a0002 a0013	a0002c0003 a0013c0036 a0002c0003 a0013c0036	a0002c0003t0001 a0013c0036t0001 a0002c0003t0001 a0013c0036t0001	a0002c0003t0001g0013 a0002c0003t0001g0104 a0013c0036t0001g0147 a0002c0003t0001g0013 a0002c0003t0001g0104 a0013c0036t0001g0147	3	185	0.0162	-26	c.-11 others(34): Show c.-118_-93delCGGGGGCGTGGCCTCGCGGAGGCGGG	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding		24		chrX	TogoVar
ASNSD1_chr2_189656459_189675831	189665596	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0049 a0001c0002t0001g0049	1	340	0.0029	-26	c.-93 others(41): Show c.-93+147_-93+172delGTATATATATATATATATATATATAT	ASNSD1	ENSG00000138381.10	transcript	ENST00000260952.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASPDH_chr19_50506603_50518913	50513561	GGGCAGAG others(19): Show GGGCAGAGACACAGTGGGGTGGACAGA	G G	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18973.hp1 NA19002.hp2 others(1): Show NA18949.hp1 NA18973.hp1 NA19002.hp2 NA19087.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0011 a0003c0003t0001g0011	4	372	0.0108	-26	c.53- others(39): Show c.53-171_53-146delTCTGTCCACCCCACTGTGTCTCTGCC	ASPDH	ENSG00000204653.10	transcript	ENST00000389208.9	protein_coding	1/6			chr19	TogoVar
ASPG_chr14_104080700_104120582	104097852	GCATATGG others(19): Show GCATATGGAGGTTCTACGTTAGAGATA	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02738.hp1 HG03710.hp2 others(2): Show HG02602.hp1 HG02738.hp1 HG03710.hp2 HG04204.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0123 a0001c0001t0001g0142 a0001c0001t0001g0144 others(2): Show a0001c0001t0001g0123 a0001c0001t0001g0142 a0001c0001t0001g0144 a0002c0003t0001g0211 a0002c0003t0001g0216	5	368	0.0136	-26	c.513 others(41): Show c.513+217_513+242delATATGGAGGTTCTACGTTAGAGATAC	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
ASPG_chr14_104080700_104120582	104097920	CGTTAGAG others(19): Show CGTTAGAGATGCGTATGGAGGTTCTGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(92): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02074.hp1 HG02083.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp2 HG02293.hp2 HG02523.hp2 HG02683.hp2 HG03017.hp1 HG03017.hp2 HG03225.hp2 HG03492.hp1 HG03540.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG04115.hp2 HG04184.hp1 NA18612.hp1 NA18939.hp2 NA18941.hp2 NA18945.hp2 NA18947.hp2 NA18949.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18997.hp1 NA19000.hp2 NA19004.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19067.hp2 NA19080.hp2 NA19084.hp2 NA19088.hp2 NA20805.hp1 NA20805.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0018 a0001c0022 others(2): Show a0001c0001 a0001c0018 a0001c0022 a0001c0027 a0007c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 a0001c0001t0020 a0001c0001t0024 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0018t0001 a0001c0022t0001 a0001c0027t0001 a0007c0023t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(62): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0002g0110 a0001c0001t0007g0001 a0001c0001t0007g0017 a0001c0001t0007g0118 a0001c0001t0007g0252 a0001c0001t0014g0001 a0001c0001t0014g0035 a0001c0001t0020g0001 a0001c0001t0020g0005 a0001c0001t0024g0037 a0001c0001t0031g0148 a0001c0001t0033g0134 a0001c0001t0034g0001 a0001c0001t0035g0133 a0001c0001t0036g0015 a0001c0018t0001g0034 a0001c0022t0001g0068 a0001c0027t0001g0136 a0007c0023t0001g0109	95	368	0.2582	-26	c.513 others(41): Show c.513+309_513+334delTGTTAGAGATGCGTATGGAGGTTCTG	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
ASPG_chr14_104080700_104120582	104098021	CTGCGTTA others(19): Show CTGCGTTAGAGATGCGTATGGAGGTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01074.hp2 HG01167.hp1 others(19): Show HG00423.hp2 HG01074.hp2 HG01167.hp1 HG01934.hp1 HG01978.hp1 HG02071.hp2 HG02129.hp1 HG02300.hp1 HG02602.hp1 HG02683.hp1 HG02738.hp1 HG03710.hp2 HG04204.hp1 NA18939.hp1 NA18943.hp1 NA18950.hp1 NA18953.hp1 NA18999.hp1 NA19005.hp1 NA19089.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0083 a0001c0001t0001g0123 a0001c0001t0001g0138 others(14): Show a0001c0001t0001g0083 a0001c0001t0001g0123 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0153 a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0044 a0002c0003t0001g0054 a0002c0003t0001g0196 a0002c0003t0001g0210 a0002c0003t0001g0211 a0002c0003t0001g0216 a0002c0003t0001g0234	22	368	0.0598	-26	c.513 others(41): Show c.513+436_513+461delTTGCGTTAGAGATGCGTATGGAGGTT	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
ASPG_chr14_104080700_104120582	104098073	TTGCGTTA others(19): Show TTGCGTTAGAGATGCGTATGGAGGTTC	T T	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18971.hp2 NA18943.hp2 NA18971.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0007 a0001c0001t0001 a0002c0003t0007	a0001c0001t0001g0141 a0002c0003t0007g0236 a0001c0001t0001g0141 a0002c0003t0007g0236	2	368	0.0054	-26	c.513 others(41): Show c.513+464_513+489delGCGTTAGAGATGCGTATGGAGGTTCT	ASPG	ENSG00000166183.16	transcript	ENST00000551177.6	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
ASRGL1_chr11_62332448_62398412	62375428	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG01074.hp1 others(41): Show HG00408.hp1 HG00544.hp2 HG01074.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp2 HG01978.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02615.hp2 HG02698.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG03139.hp2 HG03195.hp1 HG03540.hp2 HG06807.hp2 NA18747.hp2 NA18906.hp1 NA18946.hp2 NA18949.hp2 NA18955.hp2 NA18957.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18975.hp1 NA18977.hp2 NA18982.hp1 NA18988.hp1 NA18992.hp1 NA19007.hp2 NA19009.hp1 NA19056.hp1 NA19077.hp2 NA19082.hp2 NA19088.hp1 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0001t0020 a0001c0001t0030	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0002g0002 others(40): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0002g0002 a0001c0001t0002g0193 a0001c0001t0002g0199 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0234 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0263 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0006g0006 a0001c0001t0006g0196 a0001c0001t0006g0241 a0001c0001t0006g0247 a0001c0001t0006g0254 a0001c0001t0006g0262 a0001c0001t0006g0264 a0001c0001t0006g0265 a0001c0001t0006g0280 a0001c0001t0012g0194 a0001c0001t0012g0195 a0001c0001t0012g0197 a0001c0001t0012g0198 a0001c0001t0020g0340 a0001c0001t0020g0341 a0001c0001t0030g0242	44	370	0.1189	-26	c.492 others(45): Show c.492-13677_492-13652delATATATATATATATATATATATATAT	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62375456	ATATATAT others(19): Show ATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0139 a0001c0001t0003g0139	1	370	0.0027	-26	c.492 others(45): Show c.492-13675_492-13650delATATATATATATATATATATATATTT	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASTN1_chr1_176856067_177169712	176942820	GTATATAT others(19): Show GTATATATATATATATGTATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0022 a0001c0001t0017g0022	1	112	0.0089	-26	c.237 others(45): Show c.2377+1045_2377+1070delTATATATATACATATATATATATATA	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	14/22			chr1	TogoVar
ASTN1_chr1_176856067_177169712	176991413	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAACCAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG00642.hp1 others(50): Show HG00140.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG01070.hp2 HG01071.hp1 HG01123.hp1 HG01192.hp2 HG01255.hp2 HG01346.hp2 HG01978.hp2 HG01993.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02647.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG04115.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18952.hp1 NA18981.hp2 NA19062.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0012 a0002c0004 a0002c0007 a0002c0011 a0005c0013	a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 others(19): Show a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 a0001c0002t0011 a0001c0002t0015 a0001c0003t0001 a0001c0003t0002 a0001c0003t0008 a0001c0003t0012 a0001c0003t0013 a0001c0003t0019 a0001c0005t0004 a0001c0006t0001 a0001c0006t0002 a0001c0006t0010 a0001c0006t0011 a0001c0012t0004 a0002c0004t0003 a0002c0007t0001 a0002c0007t0016 a0002c0011t0009 a0005c0013t0001	a0001c0001t0018g0054 a0001c0002t0001g0029 a0001c0002t0002g0019 others(50): Show a0001c0001t0018g0054 a0001c0002t0001g0029 a0001c0002t0002g0019 a0001c0002t0002g0032 a0001c0002t0002g0047 a0001c0002t0002g0070 a0001c0002t0002g0084 a0001c0002t0011g0009 a0001c0002t0015g0039 a0001c0003t0001g0002 a0001c0003t0001g0034 a0001c0003t0001g0109 a0001c0003t0002g0018 a0001c0003t0002g0036 a0001c0003t0002g0064 a0001c0003t0002g0067 a0001c0003t0002g0074 a0001c0003t0002g0079 a0001c0003t0002g0081 a0001c0003t0002g0100 a0001c0003t0008g0062 a0001c0003t0008g0091 a0001c0003t0008g0104 a0001c0003t0012g0087 a0001c0003t0013g0096 a0001c0003t0019g0073 a0001c0005t0004g0072 a0001c0005t0004g0085 a0001c0006t0001g0063 a0001c0006t0002g0037 a0001c0006t0010g0027 a0001c0006t0011g0111 a0001c0012t0004g0010 a0002c0004t0003g0042 a0002c0004t0003g0057 a0002c0004t0003g0060 a0002c0004t0003g0061 a0002c0004t0003g0065 a0002c0004t0003g0089 a0002c0004t0003g0090 a0002c0004t0003g0092 a0002c0004t0003g0093 a0002c0004t0003g0095 a0002c0004t0003g0097 a0002c0004t0003g0103 a0002c0007t0001g0011 a0002c0007t0001g0046 a0002c0007t0001g0071 a0002c0007t0001g0105 a0002c0007t0016g0066 a0002c0011t0009g0003 a0002c0011t0009g0040 a0005c0013t0001g0001	53	112	0.4732	-26	c.152 others(47): Show c.1523+23352_1523+23377delTTTGGTTTTTTTTTTTTTTTTTTT TT	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	8/22			chr1	TogoVar
ASTN1_chr1_176856067_177169712	177149269	CTATATAT others(19): Show CTATATATAGTAAATATATATATAGTA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02895.hp1 HG00642.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0008 a0001c0002t0002 a0001c0003t0008	a0001c0002t0002g0070 a0001c0003t0008g0091 a0001c0002t0002g0070 a0001c0003t0008g0091	2	112	0.0179	-26	c.283 others(45): Show c.283+15099_283+15124delTACTATATATATATTTACTATATATA	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	1/22			chr1	TogoVar
ASTN1_chr1_176856067_177169712	177149699	TATATATA others(19): Show TATATATACACTGTATATACATAGTAA	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 NA18522.hp1 HG02896.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0007 a0001c0003t0002 a0001c0002t0007 a0001c0003t0002	a0001c0002t0007g0082 a0001c0003t0002g0081 a0001c0002t0007g0082 a0001c0003t0002g0081	2	112	0.0179	-26	c.283 others(45): Show c.283+14669_283+14694delTTACTATGTATATACAGTGTATATAT	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	1/22			chr1	TogoVar
ASTN2_chr9_116418112_117420057	116530094	GATATATA others(19): Show GATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	102	0.0098	-26	c.335 others(47): Show c.3356-42620_3356-42595delATATATATATATATATATATATAT AT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116530126	TATATATA others(19): Show TATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01099.hp2 HG01256.hp2 others(7): Show HG00099.hp1 HG01099.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01496.hp2 HG01934.hp2 NA19010.hp2 NA19011.hp2 NA20752.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0005c0015 a0007c0018	a0001c0001t0003 a0001c0002t0002 a0001c0002t0003 others(4): Show a0001c0001t0003 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0003t0003 a0005c0015t0003 a0007c0018t0003	a0001c0001t0003g0063 a0001c0001t0003g0090 a0001c0002t0002g0023 others(7): Show a0001c0001t0003g0063 a0001c0001t0003g0090 a0001c0002t0002g0023 a0001c0002t0002g0053 a0001c0002t0002g0059 a0001c0002t0003g0066 a0001c0002t0004g0029 a0001c0003t0003g0030 a0005c0015t0003g0019 a0007c0018t0003g0031	10	102	0.0980	-26	c.335 others(47): Show c.3356-42652_3356-42627delTTATATATATATATATATATATAT AT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117134277	TATATATA others(19): Show TATATATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	102	0.0098	-26	c.116 others(45): Show c.1168+7023_1168+7048delGTGTGTGTATATATATATATATATAT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	4/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117188168	GAGAGAGA others(19): Show GAGAGAGAGAGAGAGAGAGAGAGAGAC	G G	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0017 a0001c0003t0006g0017	1	102	0.0098	-26	c.101 others(47): Show c.1015+26164_1015+26189delGTCTCTCTCTCTCTCTCTCTCTCT CT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	3/22			chr9	TogoVar
ASXL3_chr18_33573219_33756195	33734044	TGCTTTAG others(19): Show TGCTTTAGCATTCTTCTAAAGCATTTA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp2 HG01109.hp1 others(7): Show HG00280.hp2 HG00558.hp2 HG01109.hp1 HG01255.hp2 HG02886.hp1 HG03195.hp2 HG03225.hp1 HG06807.hp1 NA20300.hp1 NA21309.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0001 a0001c0005 a0002c0002 others(3): Show a0001c0001 a0001c0005 a0002c0002 a0006c0010 a0006c0025 a0007c0009	a0001c0001t0038 a0001c0005t0004 a0002c0002t0003 others(4): Show a0001c0001t0038 a0001c0005t0004 a0002c0002t0003 a0006c0010t0055 a0006c0010t0061 a0006c0025t0077 a0007c0009t0004	a0001c0001t0038g0183 a0001c0005t0004g0163 a0002c0002t0003g0106 others(7): Show a0001c0001t0038g0183 a0001c0005t0004g0163 a0002c0002t0003g0106 a0002c0002t0003g0108 a0002c0002t0003g0109 a0006c0010t0055g0170 a0006c0010t0061g0185 a0006c0025t0077g0004 a0007c0009t0004g0160 a0007c0009t0004g0161	10	220	0.0455	-26	c.977 others(41): Show c.977-202_977-177delCTTCTAAAGCATTTAGCTTTAGCATT	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
ASZ1_chr7_117358222_117432493	117379146	TATATATA others(19): Show TATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG00733.hp1 others(53): Show HG00323.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp1 HG01943.hp1 HG02145.hp1 HG02280.hp2 HG02451.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03195.hp1 HG03540.hp1 HG04115.hp1 HG04184.hp2 HG04228.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(47): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0003t0001g0002	56	306	0.1830	-26	c.105 others(43): Show c.1055+766_1055+791delGTGTATATATATATATATATATATAT	ASZ1	ENSG00000154438.8	transcript	ENST00000284629.7	protein_coding	10/12			chr7	TogoVar
ASZ1_chr7_117358222_117432493	117379154	TATATATA others(19): Show TATATATATATATATACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	306	0.0033	-26	c.105 others(43): Show c.1055+758_1055+783delGTGTGTGTGTGTATATATATATATAT	ASZ1	ENSG00000154438.8	transcript	ENST00000284629.7	protein_coding	10/12			chr7	TogoVar
ATAD2B_chr2_23743664_23932123	23818187	CGGAGGGA others(19): Show CGGAGGGAGGGAAGAAGAGAGGGAGAG	C C	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA18949.hp2 NA18963.hp2 others(3): Show HG04228.hp1 NA18949.hp2 NA18963.hp2 NA18974.hp1 NA18980.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0110 a0001c0001t0004g0112 a0001c0001t0004g0116 others(3): Show a0001c0001t0004g0110 a0001c0001t0004g0112 a0001c0001t0004g0116 a0001c0001t0004g0119 a0001c0001t0004g0120 a0001c0001t0004g0121	6	246	0.0244	-26	c.226 others(45): Show c.2267+1534_2267+1559delCTCTCCCTCTCTTCTTCCCTCCCTCC	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	17/27			chr2	TogoVar
ATAD3B_chr1_1466765_1502848	1479372	GCACACAC others(19): Show GCACACACACCCCTGCACACATGGGCA	G G	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0048 a0002c0002t0002g0048	1	276	0.0036	-26	c.444 others(41): Show c.444+285_444+310delTGGGCACACACACACCCCTGCACACA	ATAD3B	ENSG00000160072.20	transcript	ENST00000673477.1	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATAD3C_chr1_1444689_1475163	1471572	TCCCGGTG others(19): Show TCCCGGTGCGGCTCCGGTACCCAGACG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	410	0.0024	-26	c.30 others(37): Show c.3043_*3068delCCCGGTGCGGCTCCGGTACCCAGACG	ATAD3C	ENSG00000215915.10	transcript	ENST00000378785.7	protein_coding		1410		chr1	TogoVar
ATCAY_chr19_3875685_3933082	3879507	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG00639.hp2 others(66): Show HG00408.hp1 HG00597.hp1 HG00639.hp2 HG00735.hp1 HG00741.hp2 HG01074.hp2 HG01081.hp1 HG01256.hp1 HG01257.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02074.hp2 HG02083.hp2 HG02129.hp2 HG02818.hp1 HG03017.hp1 HG03239.hp2 HG03453.hp1 HG03491.hp2 HG03654.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp2 NA18939.hp1 NA18941.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18966.hp1 NA18971.hp1 NA18972.hp2 NA18980.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18990.hp1 NA18995.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19012.hp1 NA19056.hp1 NA19058.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19070.hp2 NA19074.hp1 NA19087.hp2 NA19090.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0008 a0001c0001 a0001c0004 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0016 a0001c0001t0017 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0001c0004t0002 a0001c0008t0001	a0001c0001t0001g0018 a0001c0001t0001g0095 a0001c0001t0001g0097 others(66): Show a0001c0001t0001g0018 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0002g0015 a0001c0001t0002g0108 a0001c0001t0002g0121 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0144 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0361 a0001c0001t0003g0013 a0001c0001t0003g0093 a0001c0001t0003g0118 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0175 a0001c0001t0004g0134 a0001c0001t0004g0146 a0001c0001t0004g0296 a0001c0001t0005g0016 a0001c0001t0005g0143 a0001c0001t0006g0119 a0001c0001t0007g0017 a0001c0001t0007g0154 a0001c0001t0016g0142 a0001c0001t0017g0279 a0001c0001t0029g0100 a0001c0001t0032g0136 a0001c0001t0033g0129 a0001c0004t0002g0096 a0001c0008t0001g0094	69	384	0.1797	-26	c.-15 others(37): Show c.-1542_-1517delAGAAAGAAAGAAAGAAAGAAAGAAAG	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding		1177		chr19	TogoVar
ATCAY_chr19_3875685_3933082	3925463	TGAAATAG others(19): Show TGAAATAGGCAGACCTAGCAAGAGGAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18983.hp2 NA19010.hp2 NA19074.hp2 NA18983.hp2 NA19010.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0216 a0001c0001t0013g0218 a0001c0001t0013g0298 a0001c0001t0013g0216 a0001c0001t0013g0218 a0001c0001t0013g0298	3	384	0.0078	-26	c.87 others(35): Show c.874_*899delAATAGGCAGACCTAGCAAGAGGAAGA	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	13/13	874	INFO_REALIGN_3_PRIME	chr19	TogoVar
ATF7IP_chr12_14360682_14507930	14494309	ATATATAT others(19): Show ATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02257.hp1 HG01123.hp2 HG02257.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0195 a0003c0003t0004g0201 a0003c0003t0004g0195 a0003c0003t0004g0201	2	346	0.0058	-26	c.328 others(45): Show c.3281-1920_3281-1895delATATATATATATATATATATATATGT	ATF7IP	ENSG00000171681.13	transcript	ENST00000261168.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
ATF7IP_chr12_14360682_14507930	14496525	GATCATTT others(19): Show GATCATTTAGAATCATTGAGTTTGCTT	G G	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0312 a0002c0002t0001g0312	1	346	0.0029	-26	c.339 others(43): Show c.3393+183_3393+208delATCATTTAGAATCATTGAGTTTGCTT	ATF7IP	ENSG00000171681.13	transcript	ENST00000261168.9	protein_coding	14/14			chr12	TogoVar
ATG12_chr5_115823200_115846565	115842507	GCCCGGGA others(19): Show GCCCGGGAGGAGGAAGACGGCGTGGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG02809.hp2 HG01257.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0034 a0001c0001t0028 a0001c0001t0034	a0001c0001t0028g0150 a0001c0001t0034g0069 a0001c0001t0028g0150 a0001c0001t0034g0069	2	402	0.0050	-26	c.-98 others(35): Show c.-981_-956delTTCCACGCCGTCTTCCTCCTCCCGGG	ATG12	ENSG00000145782.13	transcript	ENST00000509910.2	protein_coding		943		chr5	TogoVar
ATG13_chr11_46612553_46679518	46622076	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01070.hp2 HG01074.hp2 others(44): Show HG00735.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01192.hp2 HG01243.hp1 HG01257.hp1 HG01261.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01884.hp2 HG02004.hp1 HG02145.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02886.hp1 HG02965.hp1 HG03017.hp1 HG03139.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG04115.hp1 NA18906.hp1 NA18960.hp2 NA18964.hp2 NA18978.hp1 NA18984.hp1 NA18990.hp1 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19082.hp1 NA19083.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013	a0001c0001t0001g0156 a0001c0001t0001g0200 a0001c0001t0001g0201 others(43): Show a0001c0001t0001g0156 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0003g0043 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0042 a0001c0001t0008g0003 a0001c0001t0008g0004 a0001c0001t0008g0021 a0001c0001t0009g0023 a0001c0001t0009g0024 a0001c0001t0009g0041 a0001c0001t0013g0056	47	218	0.2156	-26	c.-70 others(43): Show c.-70+4213_-70+4238delATATATATATATATATATATATATAT	ATG13	ENSG00000175224.17	transcript	ENST00000683050.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
ATG14_chr14_55361391_55416830	55402924	AAAATATA others(19): Show AAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	366	0.0027	-26	c.222 others(43): Show c.222-5516_222-5491delATATATATATATATATATATATATTT	ATG14	ENSG00000126775.9	transcript	ENST00000247178.6	protein_coding	1/9			chr14	TogoVar
ATG14_chr14_55361391_55416830	55402926	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0344 a0001c0001t0008g0344	1	366	0.0027	-26	c.222 others(43): Show c.222-5518_222-5493delATATATATATATATATATATATATAT	ATG14	ENSG00000126775.9	transcript	ENST00000247178.6	protein_coding	1/9			chr14	TogoVar

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