Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
A3GALT2_chr1_33301766_33326098	33308011	CACCTCAC others(10): Show CACCTCACCCCCACCGCA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(410): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012	a0001c0001 a0001c0006 a0001c0014 others(12): Show a0001c0001 a0001c0006 a0001c0014 a0001c0015 a0002c0002 a0003c0003 a0004c0008 a0005c0004 a0006c0005 a0007c0007 a0008c0009 a0009c0011 a0010c0010 a0011c0013 a0012c0012	a0001c0001t0001 a0001c0006t0001 a0001c0014t0001 others(12): Show a0001c0001t0001 a0001c0006t0001 a0001c0014t0001 a0001c0015t0001 a0002c0002t0001 a0003c0003t0001 a0004c0008t0001 a0005c0004t0001 a0006c0005t0001 a0007c0007t0001 a0008c0009t0001 a0009c0011t0001 a0010c0010t0001 a0011c0013t0001 a0012c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(200): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0006t0001g0168 a0001c0006t0001g0208 a0001c0014t0001g0059 a0001c0015t0001g0123 a0002c0002t0001g0044 a0002c0002t0001g0100 a0002c0002t0001g0102 a0003c0003t0001g0033 a0003c0003t0001g0091 a0004c0008t0001g0056 a0004c0008t0001g0057 a0005c0004t0001g0111 a0005c0004t0001g0118 a0006c0005t0001g0034 a0007c0007t0001g0036 a0008c0009t0001g0160 a0009c0011t0001g0169 a0010c0010t0001g0125 a0011c0013t0001g0132 a0012c0012t0001g0114	413	415	0.9952	-17	c.336 others(32): Show c.336-575_336-559delTGCGGTGGGGGTGAGGT	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	4/4			chr1	TogoVar
A3GALT2_chr1_33301766_33326098	33308750	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02145.hp2 HG03225.hp1 HG01255.hp1 HG02145.hp2 HG03225.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0033 a0003c0003t0001g0091 a0003c0003t0001g0033 a0003c0003t0001g0091	3	202	0.0149	-17	c.336 others(34): Show c.336-1314_336-1298delAAAAAAAAAAAAAAAAA	A3GALT2	ENSG00000184389.9	transcript	ENST00000442999.3	protein_coding	4/4			chr1	TogoVar
AACS_chr12_125060435_125148316	125103987	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03471.hp2 HG03486.hp2 HG03139.hp1 HG03471.hp2 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0015 a0002c0010 a0001c0001 a0001c0015 a0002c0010	a0001c0001t0001 a0001c0015t0001 a0002c0010t0001 a0001c0001t0001 a0001c0015t0001 a0002c0010t0001	a0001c0001t0001g0012 a0001c0015t0001g0063 a0002c0010t0001g0020 a0001c0001t0001g0012 a0001c0015t0001g0063 a0002c0010t0001g0020	3	19	0.1579	-17	c.767 others(32): Show c.767+922_767+938delAAAAAAAAAAAAAAAAA	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
AACS_chr12_125060435_125148316	125110188	TTTGTGTG others(10): Show TTTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	355	0.0028	-17	c.915 others(34): Show c.915+2922_915+2938delTGTGTGTGTGTGTGTGT	AACS	ENSG00000081760.17	transcript	ENST00000316519.11	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
AAGAB_chr15_67195667_67259661	67196162	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0044 a0002c0002t0002g0044	1	14	0.0714	-17	c.66 others(28): Show c.6642_*6658delTTTTTTTTTTTTTTTTT	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding		4504		chr15	TogoVar
AAGAB_chr15_67195667_67259661	67242429	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG01109.hp1 others(6): Show HG00140.hp1 HG00140.hp2 HG01109.hp1 HG01496.hp2 HG01934.hp1 HG02145.hp2 HG03486.hp2 HG04204.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0033 others(6): Show a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0033 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0270 a0001c0001t0001g0279 a0001c0001t0001g0297 a0001c0001t0018g0307	9	136	0.0662	-17	c.74- others(32): Show c.74-5626_74-5610delTTTTTTTTTTTTTTTTT	AAGAB	ENSG00000103591.13	transcript	ENST00000261880.10	protein_coding	1/9			chr15	TogoVar
AARS1_chr16_70247298_70294506	70265789	TGCCCATC others(10): Show TGCCCATCAGAAAATCCA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG01070.hp2 others(36): Show HG00099.hp2 HG00140.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01175.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG01928.hp1 HG02080.hp2 HG02155.hp2 HG02257.hp1 HG02300.hp1 HG03669.hp2 HG03831.hp2 HG04184.hp1 NA18612.hp1 NA18747.hp2 NA18947.hp1 NA18951.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18960.hp2 NA18965.hp2 NA18983.hp1 NA18994.hp1 NA18997.hp2 NA19003.hp2 NA19005.hp1 NA19010.hp2 NA19055.hp2 NA19058.hp2 NA19062.hp1 NA19068.hp1 NA19078.hp2 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0169 others(33): Show a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0174 a0001c0002t0001g0180 a0001c0002t0001g0196 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0239 a0001c0002t0001g0243 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0252 a0001c0002t0001g0260 a0001c0002t0001g0266 a0001c0002t0001g0272 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0301 a0001c0002t0001g0309 a0001c0002t0001g0310 a0001c0002t0001g0312 a0001c0002t0001g0325	39	360	0.1083	-17	c.122 others(34): Show c.1223-144_1223-128delTGGATTTTCTGATGGGC	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	9/20			chr16	TogoVar
AARS1_chr16_70247298_70294506	70269322	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01884.hp2 HG02486.hp1 others(7): Show HG00423.hp1 HG01884.hp2 HG02486.hp1 HG02559.hp1 HG03688.hp1 NA18955.hp2 NA18978.hp2 NA18992.hp1 NA19043.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0001t0001 a0001c0001t0008 a0001c0002t0001	a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0052 others(7): Show a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0104 a0001c0001t0001g0131 a0001c0001t0001g0331 a0001c0001t0008g0304 a0001c0002t0001g0302	10	47	0.2128	-17	c.962 others(32): Show c.962+279_962+295delTTTTTTTTTTTTTTTTT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	7/20			chr16	TogoVar
AARS1_chr16_70247298_70294506	70276005	AGTTCGAG others(10): Show AGTTCGAGACCAGCCTGG	A A	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	360	0.0028	-17	c.479 others(32): Show c.479+464_479+480delCCAGGCTGGTCTCGAAC	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	4/20			chr16	TogoVar
AARSD1_chr17_42945526_42969454	42965994	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02896.hp2 HG03130.hp2 HG02145.hp1 HG02896.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0106	3	42	0.0714	-17	c.-15 others(28): Show c.-1571_-1555delTTTTTTTTTTTTTTTTT	AARSD1	ENSG00000266967.7	transcript	ENST00000427569.7	protein_coding		1541		chr17	TogoVar
AASDHPPT_chr11_106072662_106103695	106081616	CACAACTA others(10): Show CACAACTACCTGGTAATA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG00735.hp1 others(125): Show HG00408.hp2 HG00597.hp1 HG00735.hp1 HG01071.hp1 HG01099.hp2 HG01109.hp2 HG01243.hp2 HG01433.hp2 HG01884.hp2 HG01891.hp2 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG03579.hp2 HG03927.hp1 NA18612.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18972.hp2 NA18973.hp1 NA18978.hp1 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18984.hp1 NA18986.hp1 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19055.hp1 NA19057.hp2 NA19060.hp2 NA19062.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19076.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0002t0003 a0001c0003t0002	a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0015 others(47): Show a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0015 a0001c0001t0002g0019 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0003g0003 a0001c0001t0003g0009 a0001c0001t0003g0011 a0001c0001t0003g0013 a0001c0001t0003g0020 a0001c0001t0003g0031 a0001c0001t0003g0049 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0110 a0001c0001t0010g0005 a0001c0001t0011g0003 a0001c0001t0011g0027 a0001c0001t0014g0003 a0001c0001t0014g0013 a0001c0002t0003g0003 a0001c0002t0003g0027 a0001c0002t0003g0048 a0001c0003t0002g0028	128	402	0.3184	-17	c.409 others(34): Show c.409+1926_409+1942delCAACTACCTGGTAATAA	AASDHPPT	ENSG00000149313.11	transcript	ENST00000278618.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
ABAT_chr16_8669617_8789570	8724731	GAAAAAAA others(10): Show GAAAAAAAAAAAAAACAA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02145.hp1 HG03139.hp2 others(2): Show HG01255.hp1 HG02145.hp1 HG03139.hp2 HG03579.hp2 NA20300.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0004 a0002c0012 others(1): Show a0001c0001 a0002c0004 a0002c0012 a0006c0014	a0001c0001t0001 a0001c0001t0004 a0002c0004t0031 others(2): Show a0001c0001t0001 a0001c0001t0004 a0002c0004t0031 a0002c0012t0002 a0006c0014t0001	a0001c0001t0001g0333 a0001c0001t0004g0320 a0002c0004t0031g0328 others(2): Show a0001c0001t0001g0333 a0001c0001t0004g0320 a0002c0004t0031g0328 a0002c0012t0002g0334 a0006c0014t0001g0035	5	258	0.0194	-17	c.-41 others(36): Show c.-41-10953_-41-10937delCAAAAAAAAAAAAAAAA	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABAT_chr16_8669617_8789570	8749386	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0031 a0002c0004t0031	a0002c0004t0031g0328 a0002c0004t0031g0328	1	43	0.0233	-17	c.199 others(34): Show c.199-1022_199-1006delTTTTTTTTTTTTTTTTT	ABAT	ENSG00000183044.12	transcript	ENST00000268251.13	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
ABCA10_chr17_69143007_69233824	69146279	TACGGAAT others(10): Show TACGGAATATATATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0014 a0014	a0014c0020 a0014c0020	a0014c0020t0006 a0014c0020t0006	a0014c0020t0006g0135 a0014c0020t0006g0135	1	346	0.0029	-17	c.25 others(28): Show c.2531_*2547delGTATATATATATTCCGT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding		1727		chr17	TogoVar
ABCA10_chr17_69143007_69233824	69210832	CACATATT others(10): Show CACATATTTATGCCACAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(24): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00642.hp2 HG00738.hp2 HG01069.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01515.hp1 HG01516.hp2 HG02055.hp1 HG02145.hp1 HG02145.hp2 HG02572.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02976.hp1 HG02976.hp2 HG03195.hp1 HG03486.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp2 NA18906.hp1 NA21309.hp1	a0002 a0003 a0005 others(3): Show a0002 a0003 a0005 a0017 a0020 a0026	a0002c0002 a0003c0003 a0003c0025 others(4): Show a0002c0002 a0003c0003 a0003c0025 a0005c0005 a0017c0030 a0020c0019 a0026c0023	a0002c0002t0001 a0003c0003t0001 a0003c0003t0016 others(5): Show a0002c0002t0001 a0003c0003t0001 a0003c0003t0016 a0003c0025t0001 a0005c0005t0004 a0017c0030t0001 a0020c0019t0001 a0026c0023t0001	a0002c0002t0001g0153 a0003c0003t0001g0059 a0003c0003t0001g0074 others(24): Show a0002c0002t0001g0153 a0003c0003t0001g0059 a0003c0003t0001g0074 a0003c0003t0001g0115 a0003c0003t0001g0116 a0003c0003t0001g0121 a0003c0003t0001g0130 a0003c0003t0001g0131 a0003c0003t0001g0132 a0003c0003t0001g0133 a0003c0003t0001g0136 a0003c0003t0001g0137 a0003c0003t0001g0140 a0003c0003t0001g0152 a0003c0003t0001g0199 a0003c0003t0001g0202 a0003c0003t0001g0206 a0003c0003t0001g0207 a0003c0003t0001g0213 a0003c0003t0001g0250 a0003c0003t0001g0301 a0003c0003t0016g0307 a0003c0025t0001g0045 a0005c0005t0004g0223 a0017c0030t0001g0260 a0020c0019t0001g0205 a0026c0023t0001g0212	27	232	0.1164	-17	c.100 others(36): Show c.1006+3855_1006+3871delATGTGGCATAAATATGT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA10_chr17_69143007_69233824	69211305	CATATATA others(10): Show CATATATATGATATATAT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0026 a0026	a0026c0023 a0026c0023	a0026c0023t0001 a0026c0023t0001	a0026c0023t0001g0212 a0026c0023t0001g0212	1	190	0.0053	-17	c.100 others(36): Show c.1006+3382_1006+3398delATATATATCATATATAT	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	9/38			chr17	TogoVar
ABCA13_chr7_48166458_48652497	48172392	GCCAGAAT others(10): Show GCCAGAATATTCTATCTC	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03471.hp1 HG03579.hp1 others(3): Show HG02809.hp2 HG03471.hp1 HG03579.hp1 NA19030.hp1 NA19043.hp2 NA20300.hp2	a0007 a0014 a0072 others(1): Show a0007 a0014 a0072 a0087	a0007c0102 a0014c0025 a0014c0076 others(2): Show a0007c0102 a0014c0025 a0014c0076 a0072c0074 a0087c0075	a0007c0102t0001 a0014c0025t0003 a0014c0076t0001 others(2): Show a0007c0102t0001 a0014c0025t0003 a0014c0076t0001 a0072c0074t0001 a0087c0075t0005	a0007c0102t0001g0020 a0014c0025t0003g0024 a0014c0025t0003g0025 others(3): Show a0007c0102t0001g0020 a0014c0025t0003g0024 a0014c0025t0003g0025 a0014c0076t0001g0021 a0072c0074t0001g0022 a0087c0075t0005g0023	6	176	0.0341	-17	c.69+ others(30): Show c.69+841_69+857delCCAGAATATTCTATCTC	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	1/61			chr7	TogoVar
ABCA13_chr7_48166458_48652497	48172797	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0059 a0059	a0059c0059 a0059c0059	a0059c0059t0003 a0059c0059t0003	a0059c0059t0003g0172 a0059c0059t0003g0172	1	6	0.1667	-17	c.69+ others(32): Show c.69+1267_69+1283delAAAAAAAAAAAAAAAAA	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	1/61		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCA4_chr1_93987834_94126148	94116990	CTTTCTTT others(10): Show CTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0033 a0033	a0033c0102 a0033c0102	a0033c0102t0001 a0033c0102t0001	a0033c0102t0001g0012 a0033c0102t0001g0012	1	304	0.0033	-17	c.67- others(32): Show c.67-3941_67-3925delAGAAAGAAAGAAAGAAA	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	1/49			chr1	TogoVar
ABCA6_chr17_69073702_69146895	69146279	TACGGAAT others(10): Show TACGGAATATATATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0168 a0003c0009t0001g0168	1	321	0.0031	-17	c.-45 others(28): Show c.-4597_-4581delGTATATATATATTCCGT	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding		4385		chr17	TogoVar
ABCA9_chr17_68969488_69065927	69053067	CTCCTTCA others(10): Show CTCCTTCAGTTAGGGCTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02602.hp1 HG02622.hp2 others(13): Show HG01884.hp1 HG02602.hp1 HG02622.hp2 HG02717.hp2 HG02818.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03491.hp1 HG03492.hp1 HG03834.hp1 HG03927.hp2 NA18522.hp2 NA18906.hp1 NA20905.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0004 a0003c0003t0013 a0003c0003t0001 a0003c0003t0004 a0003c0003t0013	a0003c0003t0001g0007 a0003c0003t0001g0030 a0003c0003t0001g0031 others(10): Show a0003c0003t0001g0007 a0003c0003t0001g0030 a0003c0003t0001g0031 a0003c0003t0004g0005 a0003c0003t0004g0006 a0003c0003t0004g0022 a0003c0003t0004g0023 a0003c0003t0004g0024 a0003c0003t0004g0026 a0003c0003t0004g0027 a0003c0003t0004g0028 a0003c0003t0004g0029 a0003c0003t0013g0025	16	310	0.0516	-17	c.-13 others(34): Show c.-13-1945_-13-1929delAAGCCCTAACTGAAGGA	ABCA9	ENSG00000154258.17	transcript	ENST00000340001.9	protein_coding	1/38			chr17	TogoVar
ABCB10_chr1_229511582_229563707	229529295	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02602.hp1 HG01433.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0218 a0001c0001t0001g0219	2	44	0.0455	-17	c.164 others(34): Show c.1645+887_1645+903delTTTTTTTTTTTTTTTTT	ABCB10	ENSG00000135776.5	transcript	ENST00000344517.5	protein_coding	8/12			chr1	TogoVar
ABCB5_chr7_20610667_20762008	20691168	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0003 a0010c0017t0003	a0010c0017t0003g0023 a0010c0017t0003g0023	1	28	0.0357	-17	c.201 others(36): Show c.2010+5349_2010+5365delTTTTTTTTTTTTTTTTT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	16/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCB5_chr7_20610667_20762008	20711845	TTTTCTTT others(10): Show TTTTCTTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp2 HG02257.hp2 HG02451.hp2	a0005 a0023 a0005 a0023	a0005c0015 a0023c0073 a0005c0015 a0023c0073	a0005c0015t0004 a0023c0073t0017 a0005c0015t0004 a0023c0073t0017	a0005c0015t0004g0215 a0023c0073t0017g0057 a0005c0015t0004g0215 a0023c0073t0017g0057	2	275	0.0073	-17	c.242 others(36): Show c.2421+7041_2421+7057delTCTTTCTTTCTTTCCTT	ABCB5	ENSG00000004846.17	transcript	ENST00000404938.7	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABCC10_chr6_43422541_43455427	43424617	CTCCCCCT others(10): Show CTCCCCCTCCCTCTCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 NA18949.hp1 HG01978.hp2 NA18949.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0012 a0002c0003t0001g0036 a0001c0001t0001g0012 a0002c0003t0001g0036	2	340	0.0059	-17	c.-31 others(28): Show c.-3151_-3135delTCCCCCTCCCTCTCCCT	ABCC10	ENSG00000124574.15	transcript	ENST00000372530.9	protein_coding		2923		chr6	TogoVar
ABCC4_chr13_95014835_95306451	95186225	TATTACAG others(10): Show TATTACAGATAAAATACA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00609.hp2 HG01074.hp1 others(23): Show HG00280.hp1 HG00609.hp2 HG01074.hp1 HG01255.hp1 HG01952.hp2 HG02071.hp1 HG02129.hp2 HG02148.hp1 HG02258.hp2 HG02615.hp1 HG02723.hp2 HG02818.hp1 HG02970.hp2 HG03017.hp2 HG03139.hp2 HG03471.hp1 HG04115.hp2 NA18966.hp1 NA18968.hp2 NA18974.hp1 NA18979.hp1 NA18985.hp2 NA18994.hp2 NA19011.hp2 NA19012.hp2 NA19084.hp1	a0001 a0003 a0006 others(3): Show a0001 a0003 a0006 a0013 a0014 a0016	a0001c0001 a0001c0003 a0001c0014 others(6): Show a0001c0001 a0001c0003 a0001c0014 a0001c0050 a0003c0008 a0006c0027 a0013c0035 a0014c0056 a0016c0048	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0020 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0014t0007 a0001c0050t0005 a0003c0008t0001 a0003c0008t0002 a0006c0027t0002 a0013c0035t0003 a0014c0056t0009 a0016c0048t0021	a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0145 others(23): Show a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0145 a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0001g0186 a0001c0001t0001g0212 a0001c0001t0001g0240 a0001c0001t0002g0086 a0001c0001t0002g0213 a0001c0001t0006g0032 a0001c0001t0008g0246 a0001c0001t0020g0173 a0001c0003t0001g0134 a0001c0003t0002g0230 a0001c0003t0003g0138 a0001c0014t0007g0175 a0001c0050t0005g0036 a0003c0008t0001g0053 a0003c0008t0001g0207 a0003c0008t0001g0211 a0003c0008t0002g0208 a0006c0027t0002g0198 a0013c0035t0003g0149 a0014c0056t0009g0089 a0016c0048t0021g0187	26	245	0.1061	-17	c.154 others(34): Show c.1545+459_1545+475delTGTATTTTATCTGTAAT	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	11/30			chr13	TogoVar
ABCC9_chr12_21792389_21946426	21816036	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02723.hp1 HG02976.hp1 others(5): Show HG02572.hp2 HG02723.hp1 HG02976.hp1 HG03209.hp2 HG03579.hp2 NA19043.hp1 NA19043.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0009 a0001c0003t0015 a0001c0001t0001 a0001c0001t0009 a0001c0003t0015	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0034 others(5): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0034 a0001c0001t0001g0080 a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0001t0009g0129 a0001c0003t0015g0173	8	10	0.8000	-17	c.389 others(34): Show c.3893-160_3893-144delAAAAAAAAAAAAAAAAA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	33/39			chr12	TogoVar
ABCD3_chr1_94413389_94523663	94456255	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02886.hp1 HG02280.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0194 a0001c0001t0003g0219 a0001c0001t0003g0194 a0001c0001t0003g0219	2	20	0.1000	-17	c.111 others(34): Show c.111-2332_111-2316delTTTTTTTTTTTTTTTTT	ABCD3	ENSG00000117528.14	transcript	ENST00000370214.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
ABCG1_chr21_42214140_42302244	42295333	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp2 HG01169.hp2 others(8): Show HG00099.hp1 HG00597.hp2 HG01169.hp2 HG02027.hp2 HG02083.hp1 NA18957.hp1 NA18962.hp1 NA18962.hp2 NA18999.hp2 NA19085.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0003t0007	a0001c0001t0001g0126 a0001c0001t0001g0208 a0001c0001t0001g0209 others(8): Show a0001c0001t0001g0126 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0235 a0001c0001t0001g0244 a0001c0001t0002g0123 a0001c0001t0002g0217 a0001c0001t0002g0229 a0001c0001t0002g0339 a0001c0001t0020g0017 a0001c0003t0007g0056	11	32	0.3438	-17	c.177 others(34): Show c.1772+701_1772+717delAAAAAAAAAAAAAAAAA	ABCG1	ENSG00000160179.19	transcript	ENST00000398449.8	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCG5_chr2_43807472_43843839	43839403	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01169.hp2 HG01255.hp2 others(16): Show HG00639.hp1 HG01169.hp2 HG01255.hp2 HG02015.hp1 HG02647.hp2 HG02683.hp1 HG02895.hp1 HG02897.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG06807.hp1 NA18942.hp1 NA18952.hp1 NA18959.hp1 NA18982.hp1 NA19030.hp1 NA19064.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 a0001c0001t0001 a0001c0001t0003 a0002c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0023 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0091 a0001c0001t0001g0139 a0001c0001t0001g0184 a0001c0001t0001g0219 a0001c0001t0003g0231 a0002c0002t0002g0005 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0189 a0002c0002t0002g0190	19	22	0.8636	-17	c.-74 others(26): Show c.-741_-725delAAAAAAAAAAAAAAAAA	ABCG5	ENSG00000138075.14	transcript	ENST00000405322.8	protein_coding		565		chr2	TogoVar
ABCG8_chr2_43833971_43887988	43839403	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00639.hp1 HG01169.hp1 others(17): Show HG00558.hp2 HG00639.hp1 HG01169.hp1 HG01255.hp1 HG02015.hp2 HG02647.hp2 HG02683.hp2 HG02895.hp1 HG02897.hp2 HG03130.hp1 HG03130.hp2 HG06807.hp2 NA18942.hp2 NA18952.hp2 NA18959.hp2 NA18982.hp2 NA18986.hp1 NA18986.hp2 NA19030.hp2 NA19240.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0003c0011 a0004c0006 others(1): Show a0001c0001 a0003c0011 a0004c0006 a0005c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0017 a0001c0001t0029 a0001c0001t0031 a0001c0001t0035 a0001c0001t0060 a0001c0001t0062 a0003c0011t0012 a0003c0011t0091 a0004c0006t0083 a0005c0007t0006	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0003g0051 others(16): Show a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0003g0051 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0007g0057 a0001c0001t0010g0060 a0001c0001t0017g0052 a0001c0001t0029g0046 a0001c0001t0031g0056 a0001c0001t0035g0053 a0001c0001t0035g0054 a0001c0001t0060g0049 a0001c0001t0062g0050 a0003c0011t0012g0001 a0003c0011t0012g0061 a0003c0011t0091g0001 a0004c0006t0083g0062 a0005c0007t0006g0055	20	21	0.9524	-17	c.63+ others(30): Show c.63+312_63+328delTTTTTTTTTTTTTTTTT	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABHD12B_chr14_50867053_50909970	50869719	TATATGCA others(10): Show TATATGCATTGGTGGATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0029 a0002c0002t0002g0029	1	374	0.0027	-17	c.-24 others(28): Show c.-2455_-2439delATATGCATTGGTGGATA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		2333		chr14	TogoVar
ABHD14A_chr3_51970064_51986196	51981894	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	48	0.0208	-17	c.87 others(26): Show c.877_*893delAAAAAAAAAAAAAAAAA	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding		699		chr3	TogoVar
ABHD17A_chr19_1871810_1890496	1874761	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0037 a0001c0001t0005g0037	1	414	0.0024	-17	c.24 others(28): Show c.2422_*2438delGTTTTTTTTTTTTTTTT	ABHD17A	ENSG00000129968.17	transcript	ENST00000292577.12	protein_coding		2048		chr19	TogoVar
ABHD17C_chr15_80690310_80760621	80758378	GACCTCAC others(10): Show GACCTCACTTACAATAGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	358	0.0028	-17	c.40 others(28): Show c.4009_*4025delACCTCACTTACAATAGT	ABHD17C	ENSG00000136379.12	transcript	ENST00000258884.5	protein_coding		2758		chr15	TogoVar
ABHD18_chr4_127960406_128044953	127966702	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02572.hp2 HG02922.hp2 HG01496.hp2 HG02572.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0063 a0001c0001t0064 a0001c0001t0061 a0001c0001t0063 a0001c0001t0064	a0001c0001t0061g0267 a0001c0001t0063g0266 a0001c0001t0064g0268 a0001c0001t0061g0267 a0001c0001t0063g0266 a0001c0001t0064g0268	3	52	0.0577	-17	c.-18 others(34): Show c.-18+1116_-18+1132delAAAAAAAAAAAAAAAAA	ABHD18	ENSG00000164074.17	transcript	ENST00000645843.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
ABHD1_chr2_27118815_27135812	27127555	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	398	0.0025	-17	c.115 others(32): Show c.115-875_115-859delAAAAAAGAAAAAAAAAA	ABHD1	ENSG00000143994.14	transcript	ENST00000316470.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABHD2_chr15_89083456_89207355	89115414	GTGTGTGT others(10): Show GTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0146 a0001c0001t0016g0146	1	232	0.0043	-17	c.-6- others(30): Show c.-6-906_-6-890delGTGTGTGTGTGTGTGTT	ABHD2	ENSG00000140526.18	transcript	ENST00000352732.10	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
ABI1_chr10_26741596_26865958	26798089	AAGAGAGG others(10): Show AAGAGAGGACAAAAATTC	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03540.hp1 HG02895.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0166 a0001c0001t0003g0271 a0001c0001t0003g0166 a0001c0001t0003g0271	2	356	0.0056	-17	c.286 others(36): Show c.286-20865_286-20849delGAATTTTTGTCCTCTCT	ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	2/10			chr10	TogoVar
ABI1_chr10_26741596_26865958	26818158	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0027 a0001c0001t0015g0027	1	31	0.0323	-17	c.285 others(34): Show c.285+4963_285+4979delTTTTTTTTTTTTTTTTT	ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	2/10			chr10	TogoVar
ABI1_chr10_26741596_26865958	26843476	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03490.hp2 NA18954.hp1 NA19083.hp1 HG03490.hp2 NA18954.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0005 a0001c0001t0009	a0001c0001t0005g0318 a0001c0001t0005g0341 a0001c0001t0009g0335 a0001c0001t0005g0318 a0001c0001t0005g0341 a0001c0001t0009g0335	3	343	0.0087	-17	c.117 others(36): Show c.117+17254_117+17270delATATATATTTTTTTTTT	ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	1/10			chr10	TogoVar
ABI2_chr2_203323394_203437169	203384284	GTTTTTGT others(10): Show GTTTTTGTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01496.hp1 HG03834.hp2 others(1): Show HG00735.hp1 HG01496.hp1 HG03834.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0274 a0001c0001t0002g0195 a0001c0001t0002g0197 others(1): Show a0001c0001t0001g0274 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0198	4	318	0.0126	-17	c.480 others(34): Show c.480+2084_480+2100delGTTTTTTTTTTTTTTTT	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI2_chr2_203323394_203437169	203399738	CTCCTGAC others(10): Show CTCCTGACCTCAGGTGAT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	318	0.0031	-17	c.103 others(36): Show c.1033+2772_1033+2788delTCCTGACCTCAGGTGAT	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	8/11			chr2	TogoVar
ABI3BP_chr3_100744156_100998421	100830150	TATATATA others(10): Show TATATATATATATATAAA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0013 a0005c0016t0013	a0005c0016t0013g0013 a0005c0016t0013g0013	1	236	0.0042	-17	c.245 others(34): Show c.2458+411_2458+427delTTTATATATATATATAT	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	32/67			chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100841194	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0019 a0019	a0019c0053 a0019c0053	a0019c0053t0002 a0019c0053t0002	a0019c0053t0002g0011 a0019c0053t0002g0011	1	55	0.0182	-17	c.176 others(34): Show c.1766-353_1766-337delAAAAAAAAAAAAAAAAA	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	21/67			chr3	TogoVar
ABI3_chr17_49205707_49228225	49223086	TACAGCCC others(10): Show TACAGCCCCCAACCTCCA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0033 a0001c0001t0004g0033	1	446	0.0022	-17	c.37 others(26): Show c.374_*390delAGCCCCCAACCTCCAAC	ABI3	ENSG00000108798.9	transcript	ENST00000225941.6	protein_coding	8/8	374	INFO_REALIGN_3_PRIME	chr17	TogoVar
ABL2_chr1_179094330_179234677	179153888	TTTTGTTC others(10): Show TTTTGTTCCTACTCCTGG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp2 HG00639.hp1 others(15): Show HG00140.hp1 HG00544.hp2 HG00639.hp1 HG00733.hp2 HG01070.hp2 HG01175.hp2 HG01433.hp1 HG01515.hp2 HG02015.hp1 HG02135.hp2 HG06807.hp1 NA18942.hp2 NA18950.hp1 NA18951.hp1 NA18975.hp2 NA19000.hp1 NA19004.hp1 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0018 a0001c0002t0006 a0001c0002t0018	a0001c0002t0006g0253 a0001c0002t0006g0254 a0001c0002t0006g0255 others(15): Show a0001c0002t0006g0253 a0001c0002t0006g0254 a0001c0002t0006g0255 a0001c0002t0006g0256 a0001c0002t0006g0257 a0001c0002t0006g0260 a0001c0002t0006g0261 a0001c0002t0006g0265 a0001c0002t0006g0266 a0001c0002t0006g0267 a0001c0002t0006g0268 a0001c0002t0006g0271 a0001c0002t0006g0272 a0001c0002t0006g0273 a0001c0002t0018g0262 a0001c0002t0018g0263 a0001c0002t0018g0269 a0001c0002t0018g0270	18	348	0.0517	-17	c.158 others(36): Show c.158-20531_158-20515delCCAGGAGTAGGAACAAA	ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding	1/11			chr1	TogoVar
ABRA_chr8_106754483_106775244	106758499	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	34	0.0294	-17	c.25 others(28): Show c.2521_*2537delAAAAAAAAAAAAAAAAA	ABRA	ENSG00000174429.4	transcript	ENST00000311955.4	protein_coding		983		chr8	TogoVar
ABRA_chr8_106754483_106775244	106771473	GTTGTTTT others(10): Show GTTGTTTTGTTTTGTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	438	0.0023	-17	c.-13 others(28): Show c.-1300_-1284delAAAACAAAACAAAACAA	ABRA	ENSG00000174429.4	transcript	ENST00000311955.4	protein_coding		1230		chr8	TogoVar
ABR_chr17_998519_1184981	1009226	ACTGTCCA others(10): Show ACTGTCCATTCCCCACTG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0053 a0001c0002t0053	a0001c0002t0053g0069 a0001c0002t0053g0069	1	336	0.0030	-17	c.234 others(34): Show c.2342+436_2342+452delCAGTGGGGAATGGACAG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	21/22			chr17	TogoVar

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