Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
ACIN1_chr14_23053564_23100136	23096720	GTAGGCAC others(45): Show GTAGGCACCTCTACGCTCAACTAATTTTTTTATTTTTTGTAGGGATGAGG TTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0001 a0002c0003t0001g0001	1	350	0.0029	-52	c.-16 others(63): Show c.-1660_-1609delAAACCTCATCCCTACAAAAAATAAAAAAATTAGT TGAGCGTAGAGGTGCCTA	ACIN1	ENSG00000100813.15	transcript	ENST00000605057.6	protein_coding		1585		chr14	TogoVar
ADAM12_chr10_126007391_126393477	126121391	ATATATAA others(45): Show ATATATAATATATTGCATATTATATAATATGCAATATATTATATATTGCA TAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0183 a0001c0003t0013g0183	1	252	0.0040	-52	c.417 others(69): Show c.417-3219_417-3168delATATGCAATATATAATATATTGCATATT ATATAATATGCAATATATTATATA	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	5/22			chr10	TogoVar
ADAMTS14_chr10_70667506_70767441	70686844	ACCTCCCG others(45): Show ACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGGGCTGACCCCCCCCAC CTC	A A	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19084.hp2 NA19058.hp2 NA19084.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0128 a0002c0001t0001g0133 a0002c0001t0001g0128 a0002c0001t0001g0133	2	354	0.0057	-52	c.522 others(71): Show c.522+11872_522+11923delTGGGCGGGGGGGGCTGACCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGC	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTS18_chr16_77277128_77440034	77334081	CAGTGTTA others(45): Show CAGTGTTATATATTATATATAATATATAGTGTTATATATTATATATAATA TAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00558.hp1 others(77): Show HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp2 HG01070.hp2 HG01074.hp2 HG01106.hp1 HG01256.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01884.hp2 HG01928.hp2 HG01943.hp2 HG01975.hp1 HG01993.hp1 HG02027.hp1 HG02074.hp1 HG02083.hp2 HG02135.hp1 HG02148.hp1 HG02165.hp2 HG02300.hp1 HG02717.hp1 HG02886.hp2 HG02896.hp1 HG02976.hp2 HG03017.hp1 HG03139.hp1 HG03225.hp2 HG03831.hp1 NA18747.hp1 NA18747.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18959.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18986.hp2 NA18993.hp2 NA18994.hp2 NA18997.hp1 NA18999.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19006.hp1 NA19012.hp1 NA19043.hp1 NA19054.hp1 NA19057.hp2 NA19062.hp1 NA19074.hp1 NA19079.hp2 NA19081.hp1 NA19087.hp2	a0001 a0003 a0005 others(11): Show a0001 a0003 a0005 a0006 a0007 a0008 a0010 a0011 a0014 a0025 a0026 a0028 a0031 a0032	a0001c0001 a0001c0016 a0001c0023 others(17): Show a0001c0001 a0001c0016 a0001c0023 a0001c0024 a0001c0025 a0003c0002 a0005c0022 a0006c0061 a0007c0021 a0007c0060 a0008c0008 a0008c0040 a0010c0013 a0011c0011 a0014c0015 a0025c0041 a0026c0037 a0028c0039 a0031c0036 a0032c0045	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(27): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0041 a0001c0001t0044 a0001c0001t0050 a0001c0016t0002 a0001c0023t0003 a0001c0024t0021 a0001c0024t0022 a0001c0025t0003 a0003c0002t0006 a0003c0002t0007 a0003c0002t0023 a0005c0022t0001 a0006c0061t0003 a0007c0021t0002 a0007c0021t0004 a0007c0060t0002 a0008c0008t0003 a0008c0040t0003 a0010c0013t0003 a0011c0011t0020 a0014c0015t0001 a0025c0041t0002 a0026c0037t0028 a0028c0039t0003 a0031c0036t0006 a0032c0045t0006	a0001c0001t0002g0025 a0001c0001t0002g0029 a0001c0001t0002g0037 others(77): Show a0001c0001t0002g0025 a0001c0001t0002g0029 a0001c0001t0002g0037 a0001c0001t0002g0047 a0001c0001t0002g0068 a0001c0001t0002g0076 a0001c0001t0002g0079 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0123 a0001c0001t0002g0128 a0001c0001t0002g0134 a0001c0001t0002g0140 a0001c0001t0002g0181 a0001c0001t0002g0209 a0001c0001t0002g0232 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0263 a0001c0001t0002g0265 a0001c0001t0004g0072 a0001c0001t0004g0075 a0001c0001t0004g0139 a0001c0001t0004g0142 a0001c0001t0005g0088 a0001c0001t0008g0018 a0001c0001t0041g0281 a0001c0001t0044g0288 a0001c0001t0050g0087 a0001c0016t0002g0012 a0001c0016t0002g0103 a0001c0023t0003g0172 a0001c0023t0003g0174 a0001c0024t0021g0304 a0001c0024t0022g0245 a0001c0025t0003g0264 a0001c0025t0003g0278 a0003c0002t0006g0015 a0003c0002t0006g0016 a0003c0002t0006g0019 a0003c0002t0006g0052 a0003c0002t0006g0084 a0003c0002t0006g0108 a0003c0002t0006g0214 a0003c0002t0006g0294 a0003c0002t0006g0296 a0003c0002t0007g0048 a0003c0002t0007g0071 a0003c0002t0007g0132 a0003c0002t0007g0146 a0003c0002t0007g0163 a0003c0002t0007g0230 a0003c0002t0023g0024 a0005c0022t0001g0207 a0005c0022t0001g0275 a0006c0061t0003g0314 a0007c0021t0002g0002 a0007c0021t0002g0131 a0007c0021t0004g0169 a0007c0060t0002g0055 a0008c0008t0003g0017 a0008c0008t0003g0040 a0008c0008t0003g0080 a0008c0008t0003g0081 a0008c0008t0003g0082 a0008c0008t0003g0113 a0008c0008t0003g0138 a0008c0008t0003g0173 a0008c0008t0003g0190 a0008c0008t0003g0289 a0008c0008t0003g0290 a0008c0040t0003g0109 a0010c0013t0003g0301 a0011c0011t0020g0212 a0014c0015t0001g0160 a0025c0041t0002g0231 a0026c0037t0028g0144 a0028c0039t0003g0262 a0031c0036t0006g0292 a0032c0045t0006g0206	80	326	0.2454	-52	c.185 others(71): Show c.1859+1623_1859+1674delATATATTATATATAATATATAACACT ATATATTATATATAATATATAACACT	ADAMTS18	ENSG00000140873.16	transcript	ENST00000282849.10	protein_coding	12/22			chr16	TogoVar
ADAMTS6_chr5_65143738_65486920	65230530	TATATATA others(45): Show TATATATAATACATGATATATATGAAATATATATAATACATGATATATAT GAA	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	204	0.0049	-52	c.193 others(71): Show c.1934-4363_1934-4312delTTCATATATATCATGTATTATATATA TTTCATATATATCATGTATTATATAT	ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	15/24			chr5	TogoVar
ADAMTS6_chr5_65143738_65486920	65230703	AATATATA others(45): Show AATATATATAACACATATGTATGAAATATATATATAACACATATGTATGA AAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02027.hp1 NA18953.hp2 others(5): Show HG00423.hp1 HG02027.hp1 NA18953.hp2 NA18964.hp1 NA18971.hp1 NA18973.hp1 NA18983.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0001 a0001c0001t0003 a0001c0001t0012	a0001c0001t0001g0029 a0001c0001t0001g0082 a0001c0001t0001g0095 others(5): Show a0001c0001t0001g0029 a0001c0001t0001g0082 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0115 a0001c0001t0001g0148 a0001c0001t0003g0147 a0001c0001t0012g0098	8	204	0.0392	-52	c.193 others(71): Show c.1934-4536_1934-4485delATTTCATACATATGTGTTATATATAT ATTTCATACATATGTGTTATATATAT	ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	15/24			chr5	TogoVar
ADCY3_chr2_24814169_24925237	24858161	CTGGATTT others(45): Show CTGGATTTTTTTTAAGTTTTTTTGTAGAGATAAGGTCTTGCCATGTCTGG TGT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02970.hp2 HG02965.hp2 HG02970.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0130 a0002c0001t0001g0132 a0002c0001t0001g0130 a0002c0001t0001g0132	2	272	0.0074	-52	c.825 others(71): Show c.825+14357_825+14408delACACCAGACATGGCAAGACCTTATCT CTACAAAAAAACTTAAAAAAAATCCA	ADCY3	ENSG00000138031.15	transcript	ENST00000679454.1	protein_coding	3/21			chr2	TogoVar
ADGB_chr6_146593972_146820462	146691425	TATATATA others(45): Show TATATATATATATATATAAAAATATATATATATAAAAATATATATATATA TAA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02895.hp2 HG03579.hp1 others(1): Show HG02109.hp1 HG02895.hp2 HG03579.hp1 NA19240.hp2	a0007 a0011 a0016 a0007 a0011 a0016	a0007c0017 a0011c0056 a0016c0052 others(1): Show a0007c0017 a0011c0056 a0016c0052 a0016c0055	a0007c0017t0001 a0011c0056t0001 a0016c0052t0001 others(1): Show a0007c0017t0001 a0011c0056t0001 a0016c0052t0001 a0016c0055t0001	a0007c0017t0001g0230 a0011c0056t0001g0022 a0016c0052t0001g0011 others(1): Show a0007c0017t0001g0230 a0011c0056t0001g0022 a0016c0052t0001g0011 a0016c0055t0001g0008	4	276	0.0145	-52	c.148 others(69): Show c.1486+153_1486+204delAAAATATATATATATAAAAATATATATA TATATAAATATATATATATATATA	ADGB	ENSG00000118492.19	transcript	ENST00000397944.8	protein_coding	11/35		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRA1_chr10_133082924_133136675	133124178	GGCCACCC others(45): Show GGCCACCCTCTTGGGCTCTGCACCCTCCCCGGCTCTGCAACCTCCCCGGC CAA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18959.hp1 HG02257.hp2 NA18959.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0044 a0001c0002t0001 a0001c0003t0044	a0001c0002t0001g0084 a0001c0003t0044g0034 a0001c0002t0001g0084 a0001c0003t0044g0034	2	368	0.0054	-52	c.402 others(69): Show c.402-3016_402-2965delACCTCCCCGGCCAAGCCACCCTCTTGGG CTCTGCACCCTCCCCGGCTCTGCA	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADGRB3_chr6_68630282_69394506	68661355	GTGTGTGT others(45): Show GTGTGTGTGTATATATATGTGTATACATATATATATGTGTGTATACATAT ATA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01167.hp1 others(18): Show HG01069.hp1 HG01071.hp1 HG01167.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01517.hp1 HG01978.hp1 HG01981.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02622.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG03239.hp1 NA18957.hp2 NA18966.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0002c0005	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(3): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0002c0004t0002 a0002c0005t0002	a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 others(18): Show a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0116 a0001c0002t0001g0001 a0001c0002t0001g0095 a0001c0002t0002g0069 a0001c0002t0002g0110 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0117 a0001c0002t0002g0119 a0001c0002t0006g0115 a0002c0004t0002g0066 a0002c0004t0002g0118 a0002c0005t0002g0025 a0002c0005t0002g0026	21	120	0.1750	-52	c.757 others(71): Show c.757+21983_757+22034delGTATATATATGTGTATACATATATAT ATGTGTGTATACATATATATGTGTGT	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRB3_chr6_68630282_69394506	68661407	ATGTGTGT others(45): Show ATGTGTGTGTATATATATGTGTATACATATATATATGTGTGTATACATAT ATA	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0051 a0001c0002t0004g0051	1	120	0.0083	-52	c.757 others(71): Show c.757+21983_757+22034delGTATATATATGTGTATACATATATAT ATGTGTGTATACATATATATGTGTGT	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRB3_chr6_68630282_69394506	68661432	CATATATA others(45): Show CATATATATATGTGTGTATACATATATATGTGTGTATATATATGTGTATA CAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01496.hp2 HG01981.hp1 others(9): Show HG00639.hp1 HG01496.hp2 HG01981.hp1 HG02074.hp2 HG02109.hp2 HG02602.hp2 HG02735.hp2 HG03239.hp2 HG03490.hp2 HG03654.hp2 HG04204.hp1 HG04228.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0009 a0001c0001 a0001c0003 a0004c0009	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0004c0009t0001	a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0003t0001g0019 others(9): Show a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0003t0001g0019 a0001c0003t0001g0020 a0001c0003t0001g0033 a0001c0003t0001g0079 a0001c0003t0001g0082 a0001c0003t0001g0083 a0001c0003t0001g0089 a0001c0003t0001g0090 a0001c0003t0002g0053 a0004c0009t0001g0111	12	120	0.1000	-52	c.757 others(71): Show c.757+22009_757+22060delATGTGTGTATACATATATATGTGTGT ATATATATGTGTATACATATATATAT	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRD1_chr12_130948907_131146469	131011103	GCCCCACC others(45): Show GCCCCACCCTGCCCCACCTCACCCCTTCCCCACCCTGCCCCACCTCACCC CTT	G G	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA19088.hp2 NA18986.hp1 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0010 a0001c0002 a0001c0010	a0001c0002t0003 a0001c0010t0007 a0001c0002t0003 a0001c0010t0007	a0001c0002t0003g0034 a0001c0010t0007g0150 a0001c0002t0003g0034 a0001c0010t0007g0150	2	242	0.0083	-52	c.133 others(71): Show c.1332-3070_1332-3019delTCCCCACCCTGCCCCACCTCACCCCT TCCCCACCCTGCCCCACCTCACCCCT	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	12/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
ADGRD1_chr12_130948907_131146469	131107426	TGCTCTCC others(45): Show TGCTCTCCCAGAGACCCGTGTCTAAATCCCAGGGAAGGGCTCTGATGGGT CCC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0008 a0001c0043t0008	a0001c0043t0008g0227 a0001c0043t0008g0227	1	242	0.0041	-52	c.188 others(71): Show c.1888-1275_1888-1224delAAATCCCAGGGAAGGGCTCTGATGGG TCCCGCTCTCCCAGAGACCCGTGTCT	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
ADRA1D_chr20_4215630_4254287	4227652	TTCCTTCC others(45): Show TTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCTCTCCCTCCCTCCCT CCC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG01069.hp2 others(16): Show HG00323.hp2 HG00639.hp1 HG01069.hp2 HG01099.hp2 HG01106.hp2 HG01168.hp1 HG01169.hp2 HG01261.hp1 HG01496.hp1 HG02602.hp1 HG02735.hp2 HG02738.hp1 HG03017.hp2 HG03490.hp1 HG03492.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 NA20752.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0003 a0008c0007 a0001c0001 a0001c0003 a0008c0007	a0001c0001t0004 a0001c0003t0001 a0001c0003t0002 others(1): Show a0001c0001t0004 a0001c0003t0001 a0001c0003t0002 a0008c0007t0001	a0001c0001t0004g0005 a0001c0001t0004g0032 a0001c0001t0004g0348 others(12): Show a0001c0001t0004g0005 a0001c0001t0004g0032 a0001c0001t0004g0348 a0001c0001t0004g0353 a0001c0001t0004g0356 a0001c0003t0001g0006 a0001c0003t0001g0042 a0001c0003t0001g0043 a0001c0003t0001g0044 a0001c0003t0001g0045 a0001c0003t0001g0047 a0001c0003t0002g0041 a0001c0003t0002g0046 a0001c0003t0002g0069 a0008c0007t0001g0034	19	452	0.0420	-52	c.111 others(71): Show c.1112-5574_1112-5523delGGGAGGGAGGGAGGGAGAGAGGGAAG GAAGGAAGGAAGGAGGGAAGGAAGGA	ADRA1D	ENSG00000171873.8	transcript	ENST00000379453.6	protein_coding	1/1			chr20	TogoVar
AFDN_chr6_167821911_167977023	167971239	CTTTCAAA others(45): Show CTTTCAAAGAGAATGTTCTCTTACACATACGTATGTTAGGAAAATAGACA CAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0093 a0001c0004t0018g0093	1	326	0.0031	-52	c.13 others(63): Show c.1329_*1380delCATACGTATGTTAGGAAAATAGACACATTTTCAA AGAGAATGTTCTCTTACA	AFDN	ENSG00000130396.22	transcript	ENST00000683244.1	protein_coding	34/34	1329	INFO_REALIGN_3_PRIME	chr6	TogoVar
AFF1_chr4_86930011_87146039	87022552	ATATATAT others(45): Show ATATATATATATATATATATATATATATATATCTATCTATATCTATCTGT GTG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0069 a0001c0016t0069	a0001c0016t0069g0088 a0001c0016t0069g0088	1	294	0.0034	-52	c.39- others(69): Show c.39-23604_39-23553delATATATATATATATATATATATCTATCT ATATCTATCTGTGTGTATATATAT	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
AGBL1_chr15_86074871_86921156	86827437	ATATATGT others(45): Show ATATATGTGTGTGTATATATATATATATATATACATATATATATATATGT GTG	A A	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03710.hp1 NA18979.hp1 HG02738.hp1 HG03710.hp1 NA18979.hp1	a0001 a0001	a0001c0006 a0001c0008 a0001c0057 a0001c0006 a0001c0008 a0001c0057	a0001c0006t0002 a0001c0008t0001 a0001c0057t0001 a0001c0006t0002 a0001c0008t0001 a0001c0057t0001	a0001c0006t0002g0051 a0001c0008t0001g0006 a0001c0057t0001g0067 a0001c0006t0002g0051 a0001c0008t0001g0006 a0001c0057t0001g0067	3	132	0.0227	-52	c.315 others(73): Show c.3159-79644_3159-79593delGTGTGTGTATATATATATATATAT ATACATATATATATATATGTGTGTATAT	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL4_chr1_48527854_50028954	49372607	TTTTCTTT others(45): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02451.hp1 HG02622.hp1 others(7): Show HG00639.hp1 HG02451.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02896.hp1 HG02976.hp1 HG03041.hp2 NA18906.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0003 others(1): Show a0001c0001 a0001c0004 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0004t0003 a0002c0003t0007 a0003c0005t0001	a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0083 others(7): Show a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0083 a0001c0001t0004g0065 a0001c0001t0005g0066 a0001c0001t0014g0063 a0001c0004t0003g0062 a0001c0004t0003g0064 a0002c0003t0007g0061 a0003c0005t0001g0060	10	104	0.0962	-52	c.283 others(73): Show c.283-126795_283-126744delGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	3/13			chr1	TogoVar
AGBL4_chr1_48527854_50028954	49377996	TTGTCTCC others(45): Show TTGTCTCCCAACACAAACTTCATGCCTTGTCTCCCAACACAAACTTCATG CCA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01943.hp1 HG02451.hp1 others(10): Show HG00639.hp1 HG01943.hp1 HG02451.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02896.hp1 HG02976.hp1 HG03041.hp2 HG03209.hp1 NA18906.hp1 NA20129.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0003 others(1): Show a0001c0001 a0001c0004 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0014 a0001c0004t0003 a0002c0003t0001 a0002c0003t0007 a0003c0005t0001	a0001c0001t0001g0014 a0001c0001t0001g0067 a0001c0001t0001g0068 others(10): Show a0001c0001t0001g0014 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0083 a0001c0001t0004g0065 a0001c0001t0005g0066 a0001c0001t0014g0063 a0001c0004t0003g0016 a0001c0004t0003g0062 a0001c0004t0003g0064 a0002c0003t0001g0015 a0002c0003t0007g0061 a0003c0005t0001g0060	13	104	0.1250	-52	c.283 others(73): Show c.283-132184_283-132133delTGGCATGAAGTTTGTGTTGGGAGA CAAGGCATGAAGTTTGTGTTGGGAGACA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	3/13			chr1	TogoVar
AGMO_chr7_15195317_15567015	15322648	AAATATAT others(45): Show AAATATATATATAAATATATATAAATATATGTATATATAAATATATGAAT ATG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02109.hp2 HG02280.hp1 others(7): Show HG00140.hp1 HG02109.hp2 HG02280.hp1 HG03017.hp2 HG03471.hp2 HG03654.hp1 HG03710.hp2 NA18612.hp1 NA19043.hp1 NA19078.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0019 a0001c0001 a0001c0003 a0002c0019	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0002c0019t0001	a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0175 others(7): Show a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0175 a0001c0001t0003g0150 a0001c0001t0003g0170 a0001c0001t0003g0182 a0001c0001t0003g0216 a0001c0001t0003g0220 a0001c0003t0001g0068 a0002c0019t0001g0066	10	236	0.0424	-52	c.126 others(73): Show c.1263+42814_1263+42865delCATATTCATATATTTATATATACA TATATTTATATATATTTATATATATATT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15354402	GTGTACAC others(45): Show GTGTACACACGTGTGTGTATACACACACGTGTGTGTATACACACGTGTGT GTA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02055.hp2 others(9): Show HG01167.hp1 HG01169.hp2 HG02055.hp2 HG02630.hp1 HG02818.hp2 HG02895.hp2 HG02965.hp1 HG03225.hp1 HG03516.hp1 HG03540.hp1 HG06807.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0001c0007 a0002c0002 others(1): Show a0001c0005 a0001c0007 a0002c0002 a0002c0004	a0001c0005t0001 a0001c0007t0001 a0002c0002t0001 others(5): Show a0001c0005t0001 a0001c0007t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0004t0001 a0002c0004t0004 a0002c0004t0007	a0001c0005t0001g0006 a0001c0005t0001g0007 a0001c0007t0001g0017 others(9): Show a0001c0005t0001g0006 a0001c0005t0001g0007 a0001c0007t0001g0017 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0002g0112 a0002c0002t0002g0172 a0002c0002t0004g0024 a0002c0004t0001g0010 a0002c0004t0004g0011 a0002c0004t0007g0003	12	236	0.0509	-52	c.126 others(73): Show c.1263+11060_1263+11111delTACACACACGTGTGTATACACACA CGTGTGTGTATACACACACGTGTGTACA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGPAT2_chr9_136668143_136692457	136671235	GGGCAGGC others(45): Show GGGCAGGCAGTCCAGGGTGGACCTGCTGGAGGAGATGAGGCGTCGGGGGG GGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 NA18747.hp2 NA18939.hp1 others(7): Show HG03017.hp1 NA18747.hp2 NA18939.hp1 NA18952.hp1 NA18967.hp2 NA18998.hp1 NA19007.hp1 NA19064.hp2 NA19065.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 a0001c0001t0001 a0001c0001t0004 a0001c0001t0017	a0001c0001t0001g0216 a0001c0001t0004g0031 a0001c0001t0004g0032 others(5): Show a0001c0001t0001g0216 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0127 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0257 a0001c0001t0017g0064	10	374	0.0267	-52	c.24 others(63): Show c.2465_*2516delTCCCCCCCCGACGCCTCATCTCCTCCAGCAGGTC CACCCTGGACTGCCTGCC	AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding		1907		chr9	TogoVar
AGPAT2_chr9_136668143_136692457	136687516	CGCCCCGC others(45): Show CGCCCCGCCCCGACACTGTCCCCAACAACGCCCCGACACGGTCCCCTCAC CAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	374	0.0027	-52	c.-21 others(61): Show c.-211_-160delCTGGTGAGGGGACCGTGTCGGGGCGTTGTTGGGGAC AGTGTCGGGGCGGGGC	AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding		60		chr9	TogoVar
AGPS_chr2_177387773_177548834	177540031	GTATATAT others(45): Show GTATATATATATATATATATATATGTATGCATGTGTGTGTGTGTATATAT ATA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0038 a0001c0001t0045g0038	1	258	0.0039	-52	c.18 others(63): Show c.1848_*1899delATATATATATATGTATGCATGTGTGTGTGTGTAT ATATATATATATATATAT	AGPS	ENSG00000018510.18	transcript	ENST00000264167.11	protein_coding	20/20	1848	INFO_REALIGN_3_PRIME	chr2	TogoVar
AGTPBP1_chr9_85541539_85746954	85690682	GGTATGGT others(45): Show GGTATGGTCAGGAGTATTTTCAGTGGTGGGAAGAGGATCATTCTCTGATA GCA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01975.hp1 HG02280.hp2 others(10): Show HG00544.hp1 HG01975.hp1 HG02280.hp2 HG02486.hp1 HG02698.hp1 HG02717.hp2 HG03516.hp2 HG04204.hp1 HG06807.hp2 NA18939.hp2 NA18946.hp2 NA18971.hp2 NA18979.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0005c0006t0001 a0001c0001t0001 a0001c0001t0002 a0005c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0025 others(10): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0025 a0001c0001t0001g0041 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0002g0162 a0001c0001t0002g0167 a0001c0001t0002g0209 a0001c0001t0002g0223 a0005c0006t0001g0074	13	302	0.0431	-52	c.157 others(69): Show c.157+1955_157+2006delTGCTATCAGAGAATGATCCTCTTCCCAC CACTGAAAATACTCCTGACCATAC	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	3/25			chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85690738	TGGTCAGG others(45): Show TGGTCAGGAGTATTTTCAGTGGTGGGAAGAGGGTCATTCTCTGATAGTGA TAG	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0259	1	302	0.0033	-52	c.157 others(69): Show c.157+1899_157+1950delCTATCACTATCAGAGAATGACCCTCTTC CCACCACTGAAAATACTCCTGACC	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	3/25			chr9	TogoVar
AHCY_chr20_34275268_34308355	34275749	CTCACTCT others(45): Show CTCACTCTAACTGCCACCTCCCAGTTCAAGTGATTTTCCTGTCTCAGCCT CCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	300	0.0033	-52	c.52 others(63): Show c.5233_*5284delAGGAGGCTGAGACAGGAAAATCACTTGAACTGGG AGGTGGCAGTTAGAGTGA	AHCY	ENSG00000101444.13	transcript	ENST00000217426.7	protein_coding		4518		chr20	TogoVar
AHRR_chr5_316714_443285	318166	TCCCACCC others(45): Show TCCCACCCTGCATCTCCCCCCAACCCTGCACCTCCCCCCATCCTTTATTT CCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0076 a0002c0002t0006g0076	1	268	0.0037	-52	c.-36 others(63): Show c.-3663_-3612delCCCACCCTGCATCTCCCCCCAACCCTGCACCTCC CCCCATCCTTTATTTCCC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3547		chr5	TogoVar
AHRR_chr5_316714_443285	345074	GTGTGTGT others(45): Show GTGTGTGTGTGTGTGTGTGTGTGTCAGATGATGTCCCTGGCTGTGTGTGG GGA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03195.hp1 NA20129.hp1 HG02965.hp1 HG03195.hp1 NA20129.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0012c0018 a0001c0001 a0012c0018	a0001c0001t0001 a0001c0001t0017 a0012c0018t0017 a0001c0001t0001 a0001c0001t0017 a0012c0018t0017	a0001c0001t0001g0025 a0001c0001t0017g0264 a0012c0018t0017g0265 a0001c0001t0001g0025 a0001c0001t0017g0264 a0012c0018t0017g0265	3	268	0.0112	-52	c.62+ others(67): Show c.62+1134_62+1185delCAGATGATGTCCCTGGCTGTGTGTGGGGAT GTGTGTGTGTGTGTGTGTGTGT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AKAP6_chr14_32324298_32842684	32510386	ATATATGT others(45): Show ATATATGTGTATATATATGTATATATATGTATATATATACATATATATAT GTG	A A	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0128 a0001c0001t0048g0128	1	154	0.0065	-52	c.325 others(71): Show c.325-25162_325-25111delGTGTATATATATGTATATATATGTAT ATATATACATATATATATGTGTATAT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKR1C1_chr10_4958415_4988283	4984134	TTCCCAAC others(45): Show TTCCCAACAGTGGAAAGACCTGGGATTCAAGGGCTGCCATTCAGGTTTTT CTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02109.hp1 others(6): Show HG01884.hp1 HG02055.hp2 HG02109.hp1 HG02647.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 NA19030.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0022 a0001c0001t0075 a0001c0002t0028 others(3): Show a0001c0001t0022 a0001c0001t0075 a0001c0002t0028 a0001c0002t0064 a0001c0002t0069 a0001c0002t0166	a0001c0001t0022g0028 a0001c0001t0022g0044 a0001c0001t0075g0095 others(4): Show a0001c0001t0022g0028 a0001c0001t0022g0044 a0001c0001t0075g0095 a0001c0002t0028g0007 a0001c0002t0064g0073 a0001c0002t0069g0007 a0001c0002t0166g0077	9	426	0.0211	-52	c.63 others(63): Show c.6393_*6444delTCCCAACAGTGGAAAGACCTGGGATTCAAGGGCT GCCATTCAGGTTTTTCTG	AKR1C1	ENSG00000187134.14	transcript	ENST00000380872.9	protein_coding		852		chr10	TogoVar
AKR1C2_chr10_4982775_5008857	4984134	TTCCCAAC others(45): Show TTCCCAACAGTGGAAAGACCTGGGATTCAAGGGCTGCCATTCAGGTTTTT CTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02109.hp1 others(7): Show HG01884.hp2 HG02055.hp1 HG02109.hp1 HG02647.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03130.hp2 NA19030.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0008 a0001c0001t0047 a0001c0008t0008 a0001c0001t0008 a0001c0001t0047 a0001c0008t0008	a0001c0001t0008g0009 a0001c0001t0047g0105 a0001c0008t0008g0053 others(1): Show a0001c0001t0008g0009 a0001c0001t0047g0105 a0001c0008t0008g0053 a0001c0008t0008g0054	10	412	0.0243	-52	c.58 others(63): Show c.5810_*5861delCAGAAAAACCTGAATGGCAGCCCTTGAATCCCAG GTCTTTCCACTGTTGGGA	AKR1C2	ENSG00000151632.18	transcript	ENST00000380753.9	protein_coding		3640		chr10	TogoVar
ALDH1A1_chr9_72895671_72958053	72908506	CGAAAGAA others(45): Show CGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAG AAA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	306	0.0033	-52	c.135 others(71): Show c.1358+1044_1358+1095delTTTCTTCTTTCTTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTC	ALDH1A1	ENSG00000165092.13	transcript	ENST00000297785.8	protein_coding	11/12			chr9	TogoVar
ALDH3B2_chr11_67657155_67679623	67669746	CTGTGTCC others(45): Show CTGTGTCCACGTGTGTCTGTGTGTGTATGGGTGTCTGTGTGTGTATGGGT GTG	C C	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0018 a0018	a0018c0026 a0018c0026	a0018c0026t0014 a0018c0026t0014	a0018c0026t0014g0085 a0018c0026t0014g0085	1	390	0.0026	-52	c.-24 others(71): Show c.-244-2163_-244-2112delCACACCCATACACACACAGACACCCA TACACACACAGACACACGTGGACACA	ALDH3B2	ENSG00000132746.16	transcript	ENST00000673966.2	protein_coding	1/9			chr11	TogoVar
ALDH3B2_chr11_67657155_67679623	67670122	GTGTGTGT others(45): Show GTGTGTGTGTATGGGTGTCTGTGTGTGTATGGGTGTCTGTGTCCACGTGT GTC	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0018 a0012c0018t0018	a0012c0018t0018g0171 a0012c0018t0018g0171	1	390	0.0026	-52	c.-24 others(71): Show c.-244-2539_-244-2488delGACACACGTGGACACAGACACCCATA CACACACAGACACCCATACACACACA	ALDH3B2	ENSG00000132746.16	transcript	ENST00000673966.2	protein_coding	1/9			chr11	TogoVar
ALDH3B2_chr11_67657155_67679623	67670158	CTGTGTCC others(45): Show CTGTGTCCACGTGTGTCTGTGTGTGTATGGGTGTCTGTGTGTGTATGGGT GTG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00642.hp2 others(41): Show HG00280.hp2 HG00423.hp2 HG00642.hp2 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG01169.hp1 HG01257.hp2 HG01258.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG02004.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02717.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03225.hp1 HG03471.hp1 HG03540.hp1 HG03688.hp1 HG04228.hp2 NA18747.hp1 NA18944.hp1 NA18977.hp2 NA18985.hp1 NA18987.hp1 NA18992.hp2 NA19007.hp2 NA19011.hp2 NA19056.hp2 NA19074.hp2 NA19075.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0020 a0021	a0001c0001 a0001c0015 a0002c0002 others(3): Show a0001c0001 a0001c0015 a0002c0002 a0003c0003 a0020c0028 a0021c0027	a0001c0001t0001 a0001c0001t0004 a0001c0015t0004 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0015t0004 a0002c0002t0002 a0002c0002t0019 a0002c0002t0021 a0002c0002t0023 a0002c0002t0024 a0003c0003t0001 a0020c0028t0002 a0021c0027t0002	a0001c0001t0001g0150 a0001c0001t0004g0191 a0001c0001t0004g0192 others(29): Show a0001c0001t0001g0150 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0015t0004g0049 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0027 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0176 a0002c0002t0002g0179 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0019g0175 a0002c0002t0021g0177 a0002c0002t0023g0178 a0002c0002t0024g0211 a0003c0003t0001g0102 a0020c0028t0002g0180 a0021c0027t0002g0174	44	390	0.1128	-52	c.-24 others(71): Show c.-244-2575_-244-2524delCACACCCATACACACACAGACACCCA TACACACACAGACACACGTGGACACA	ALDH3B2	ENSG00000132746.16	transcript	ENST00000673966.2	protein_coding	1/9			chr11	TogoVar
ALDH9A1_chr1_165657216_165703562	165697704	AGACAATA others(45): Show AGACAATAATACATCAGTCCTGGTTTTAAAAGGGGGAACAGTTGGCTGGG CTT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0261 a0001c0001t0002g0261	1	332	0.0030	-52	c.181 others(67): Show c.181+622_181+673delAAGCCCAGCCAACTGTTCCCCCTTTTAAAA CCAGGACTGATGTATTATTGTC	ALDH9A1	ENSG00000143149.13	transcript	ENST00000354775.5	protein_coding	1/10			chr1	TogoVar
ALG12_chr22_49895229_49923438	49908307	ATCACGAG others(45): Show ATCACGAGGTAAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCT GTC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG00642.hp1 others(23): Show HG00438.hp2 HG00597.hp2 HG00642.hp1 HG01123.hp2 HG01433.hp1 HG01975.hp2 HG02056.hp1 HG02698.hp1 HG03239.hp1 HG03654.hp1 HG03704.hp1 HG03927.hp2 HG04204.hp1 HG04228.hp1 NA18939.hp2 NA18947.hp1 NA18952.hp2 NA18967.hp2 NA18974.hp2 NA18980.hp2 NA18989.hp2 NA18994.hp2 NA19007.hp2 NA19009.hp1 NA19012.hp1 NA19065.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0014 a0002c0003t0017 others(3): Show a0002c0003t0004 a0002c0003t0014 a0002c0003t0017 a0002c0003t0038 a0002c0003t0039 a0002c0003t0040	a0002c0003t0004g0007 a0002c0003t0004g0012 a0002c0003t0004g0054 others(12): Show a0002c0003t0004g0007 a0002c0003t0004g0012 a0002c0003t0004g0054 a0002c0003t0004g0056 a0002c0003t0004g0058 a0002c0003t0004g0059 a0002c0003t0004g0061 a0002c0003t0004g0062 a0002c0003t0014g0020 a0002c0003t0014g0053 a0002c0003t0014g0060 a0002c0003t0017g0015 a0002c0003t0038g0057 a0002c0003t0039g0055 a0002c0003t0040g0051	26	348	0.0747	-52	c.769 others(67): Show c.769-415_769-364delGACAGGGTTTCACCATGTTGGCCAGGATGG TCTCGATCTCTTTACCTCGTGA	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding	6/9			chr22	TogoVar
ALG1L2_chr3_130076831_130103390	130098737	CCCAGGGA others(45): Show CCCAGGGATGTGGCAGCTGCAGCGGGCTTGGCTTTGTGAGGAACCGAGTG TGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00639.hp2 others(45): Show HG00408.hp1 HG00544.hp2 HG00639.hp2 HG01981.hp1 HG02055.hp1 HG02074.hp2 HG02257.hp1 HG02258.hp2 HG02523.hp1 HG02818.hp1 HG02818.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03209.hp2 HG03453.hp2 HG03492.hp2 HG03669.hp2 HG03704.hp1 NA18939.hp2 NA18944.hp1 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18973.hp1 NA18974.hp1 NA18980.hp2 NA18981.hp1 NA18984.hp1 NA18989.hp1 NA18990.hp2 NA19000.hp2 NA19004.hp2 NA19009.hp2 NA19054.hp2 NA19059.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19066.hp2 NA19079.hp2 NA19088.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0008 others(1): Show a0001c0001 a0001c0006 a0001c0008 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0001c0006t0002 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0006t0002 a0001c0008t0002 a0002c0004t0002	a0001c0001t0002g0001 a0001c0001t0002g0014 a0001c0001t0002g0015 others(20): Show a0001c0001t0002g0001 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0113 a0001c0001t0002g0146 a0001c0001t0003g0022 a0001c0001t0003g0097 a0001c0006t0002g0018 a0001c0006t0002g0074 a0001c0008t0002g0076 a0002c0004t0002g0034	48	261	0.1839	-52	c.48 others(61): Show c.483_*534delCCAGGGATGTGGCAGCTGCAGCGGGCTTGGCTTTGT GAGGAACCGAGTGTGT	ALG1L2	ENSG00000251287.9	transcript	ENST00000425059.1	protein_coding		348		chr3	TogoVar
ALG6_chr1_63362627_63443553	63400231	ATATATAT others(45): Show ATATATATATATACGTATATATATGTATATATATATACGTATATATATAT ACG	A A	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0323 a0002c0002t0001g0323	1	388	0.0026	-52	c.168 others(69): Show c.168-1972_168-1921delCGTATATATATATACGTATATATATGTA TATATATATACGTATATATATATA	ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ALLC_chr2_3653200_3707671	3671916	GGAGGTCC others(45): Show GGAGGTCCTCTGGCTCTATTTAGATCCGAGGTCCTCTGGCTCTATTTAGA TCC	G G	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	274	0.0037	-52	c.33+ others(65): Show c.33+770_33+821delTTTAGATCCGAGGTCCTCTGGCTCTATTTAGA TCCGAGGTCCTCTGGCTCTA	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALLC_chr2_3653200_3707671	3671960	TTTAGATC others(45): Show TTTAGATCCGAGGTCCTCTGGCTCTATTTAGATCCGAGGTCCTCTGGCTC TAG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02109.hp1 HG02145.hp1 others(8): Show HG01109.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02451.hp2 HG02486.hp2 HG02630.hp1 HG03041.hp2 HG03209.hp1 HG03453.hp1 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0002c0002t0002 a0003c0003t0002 a0001c0001t0002 a0002c0002t0002 a0003c0003t0002	a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 others(8): Show a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0002c0002t0002g0014 a0002c0002t0002g0182 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0242 a0002c0002t0002g0250 a0003c0003t0002g0139	11	274	0.0402	-52	c.33+ others(65): Show c.33+796_33+847delTTTAGATCCGAGGTCCTCTGGCTCTAGTTAGA TCCGAGGTCCTCTGGCTCTA	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALLC_chr2_3653200_3707671	3672035	CTAGTTAG others(45): Show CTAGTTAGACCTGTGGTCCTCTGGCTCTGGTTAGATGGGAGGTCCTCTGG CTG	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0153 a0004c0004t0001g0153	1	274	0.0037	-52	c.33+ others(65): Show c.33+847_33+898delAGTTAGACCTGTGGTCCTCTGGCTCTGGTTAG ATGGGAGGTCCTCTGGCTGT	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALLC_chr2_3653200_3707671	3672539	AGGAGGTC others(45): Show AGGAGGTCCTCTGGTTCTGGTTAGATGGGAGGTCCCCTGGCTCTGGTTAG ATG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00423.hp2 others(66): Show HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00733.hp2 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01109.hp2 HG01346.hp1 HG01358.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp1 HG02055.hp1 HG02056.hp2 HG02080.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02630.hp1 HG02738.hp2 HG03041.hp2 HG03130.hp1 HG03209.hp1 HG03453.hp1 HG03579.hp1 HG03688.hp1 HG03704.hp1 HG04199.hp1 NA18939.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18952.hp2 NA18961.hp2 NA18963.hp2 NA18965.hp2 NA18969.hp1 NA18971.hp2 NA18979.hp1 NA18983.hp2 NA18989.hp2 NA18995.hp1 NA18999.hp1 NA19007.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19060.hp2 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19074.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19088.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0012 a0002c0002 others(2): Show a0001c0001 a0001c0012 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0002 a0001c0012t0002 a0002c0002t0002 others(2): Show a0001c0001t0002 a0001c0012t0002 a0002c0002t0002 a0003c0003t0002 a0004c0004t0002	a0001c0001t0002g0158 a0001c0001t0002g0162 a0001c0001t0002g0163 others(61): Show a0001c0001t0002g0158 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0012t0002g0244 a0002c0002t0002g0001 a0002c0002t0002g0011 a0002c0002t0002g0014 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0174 a0002c0002t0002g0182 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0208 a0002c0002t0002g0211 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0225 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0242 a0002c0002t0002g0245 a0002c0002t0002g0247 a0002c0002t0002g0250 a0003c0003t0002g0010 a0003c0003t0002g0018 a0003c0003t0002g0034 a0003c0003t0002g0035 a0003c0003t0002g0138 a0003c0003t0002g0139 a0003c0003t0002g0152 a0003c0003t0002g0183 a0003c0003t0002g0187 a0003c0003t0002g0188 a0003c0003t0002g0189 a0003c0003t0002g0190 a0003c0003t0002g0191 a0003c0003t0002g0193 a0003c0003t0002g0194 a0003c0003t0002g0195 a0003c0003t0002g0196 a0003c0003t0002g0202 a0003c0003t0002g0203 a0003c0003t0002g0204 a0003c0003t0002g0205 a0003c0003t0002g0221 a0003c0003t0002g0249 a0004c0004t0002g0184 a0004c0004t0002g0185 a0004c0004t0002g0192 a0004c0004t0002g0197 a0004c0004t0002g0198 a0004c0004t0002g0206	69	274	0.2518	-52	c.33+ others(67): Show c.33+1375_33+1426delGGGAGGTCCCCTGGCTCTGGTTAGATGGGA GGTCCTCTGGTTCTGGTTAGAT	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALLC_chr2_3653200_3707671	3672673	GGTCCTCT others(45): Show GGTCCTCTGGCTCTGGTTAGATCGGAAGTCCTCTGGCTCTGGTTAGATCG GAA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA18522.hp1 HG02723.hp1 NA18522.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0251 a0004c0004t0003g0252 a0004c0004t0003g0251 a0004c0004t0003g0252	2	274	0.0073	-52	c.34- others(67): Show c.34-1380_34-1329delCGGAAGTCCTCTGGCTCTGGTTAGATCGGA AGTCCTCTGGCTCTGGTTAGAT	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALOXE3_chr17_8090900_8123514	8107810	CAAGAAAG others(45): Show CAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGA	C C	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0144 a0001c0002t0001g0144	1	422	0.0024	-52	c.168 others(69): Show c.1684+606_1684+657delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTT	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
ALOXE3_chr17_8090900_8123514	8107942	AAAGAAAG others(45): Show AAAGAAAGAAAGAAAGAAAGGAAGGAGAGAGAGAGAGAGAGAAAGAAAGA AAG	A A	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	422	0.0024	-52	c.168 others(69): Show c.1684+474_1684+525delCTTTCTTTCTTTCTCTCTCTCTCTCTCT CCTTCCTTTCTTTCTTTCTTTCTT	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
AMFR_chr16_56356452_56430545	56425717	TGGGCCCG others(45): Show TGGGCCCGCAGACACAGAGGGCACCTGCTCCGGCCGCGGCGCAGGGGTCA CTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG03098.hp2 HG02622.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0030 a0001c0001t0011 a0001c0001t0030	a0001c0001t0011g0005 a0001c0001t0030g0003 a0001c0001t0011g0005 a0001c0001t0030g0003	2	356	0.0056	-52	c.-44 others(61): Show c.-442_-391delGAGTGACCCCTGCGCCGCGGCCGGAGCAGGTGCCCT CTGTGTCTGCGGGCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding		173		chr16	TogoVar
AMPH_chr7_38378704_38636373	38610330	AGAAAAAA others(45): Show AGAAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGGA AAG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0164 a0001c0001t0004g0164	1	288	0.0035	-52	c.69+ others(69): Show c.69+20901_69+20952delCTTTCCTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTTTC	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar

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