Joint Open Genome and Omics Platform (JoGo)

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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
ALDH5A1_chr6_24489969_24542207	24513646	TATTGCAG others(27): Show TATTGCAGCATCCCATGTACTCACCTACTATTGAC	T T	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	366	0.0027	-34	c.727 others(51): Show c.727-1487_727-1454delCATTGCAGCATCCCATGTACTCACCTAC TATTGA	ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
ALDH5A1_chr6_24489969_24542207	24526953	AATATATA others(27): Show AATATATATATATGTGTGTGTGTATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00544.hp2 others(82): Show HG00099.hp2 HG00408.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01517.hp2 HG01934.hp1 HG01934.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02040.hp2 HG02071.hp2 HG02080.hp1 HG02165.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02683.hp2 HG02735.hp2 HG02818.hp2 HG02965.hp2 HG03239.hp2 HG03491.hp1 HG03669.hp1 HG03704.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp2 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18942.hp1 NA18945.hp2 NA18947.hp1 NA18964.hp1 NA18966.hp2 NA18968.hp1 NA18974.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18990.hp2 NA18994.hp1 NA19002.hp2 NA19005.hp1 NA19011.hp1 NA19055.hp1 NA19056.hp2 NA19062.hp2 NA19063.hp1 NA19070.hp1 NA19072.hp1 NA19076.hp1 NA19083.hp2 NA19091.hp1 NA20752.hp2 NA20905.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0009	a0001c0001 a0001c0009 a0002c0002 others(3): Show a0001c0001 a0001c0009 a0002c0002 a0003c0003 a0007c0010 a0009c0008	a0001c0001t0001 a0001c0001t0008 a0001c0001t0024 others(8): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0024 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0009t0023 a0002c0002t0001 a0003c0003t0001 a0007c0010t0001 a0009c0008t0001	a0001c0001t0001g0016 a0001c0001t0001g0136 a0001c0001t0001g0137 others(81): Show a0001c0001t0001g0016 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0303 a0001c0001t0008g0010 a0001c0001t0008g0141 a0001c0001t0008g0153 a0001c0001t0024g0214 a0001c0001t0029g0213 a0001c0001t0031g0197 a0001c0001t0032g0202 a0001c0009t0023g0240 a0002c0002t0001g0089 a0003c0003t0001g0033 a0007c0010t0001g0204 a0009c0008t0001g0209	85	320	0.2656	-34	c.117 others(52): Show c.1174-1031_1174-998delGTGTGTGTGTATATATATATATATATA TATATAT	ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
ALG6_chr1_63362627_63443553	63400221	ACGTATAT others(27): Show ACGTATATATATATATATATATACGTATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0318 a0001c0001t0004g0318	1	238	0.0042	-34	c.168 others(51): Show c.168-2032_168-1999delCGTATATATATATATATATATACGTATA TATATG	ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	3/14			chr1	TogoVar
ALG6_chr1_63362627_63443553	63422398	TATCTATA others(27): Show TATCTATATAAATATAAATATATATATAAATATAA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG00733.hp1 others(77): Show HG00544.hp1 HG00558.hp1 HG00733.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01256.hp2 HG01358.hp2 HG01884.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp2 HG02071.hp2 HG02145.hp1 HG02257.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp2 HG02559.hp1 HG02647.hp2 HG02698.hp1 HG02738.hp2 HG02895.hp1 HG02897.hp2 HG02976.hp2 HG03098.hp1 HG03195.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03669.hp2 HG03704.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG06807.hp2 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18947.hp1 NA18951.hp1 NA18952.hp2 NA18957.hp2 NA18959.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18969.hp1 NA18973.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18983.hp2 NA18991.hp1 NA18995.hp2 NA18997.hp1 NA19002.hp1 NA19007.hp1 NA19043.hp1 NA19056.hp2 NA19057.hp2 NA19059.hp2 NA19063.hp1 NA19065.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19086.hp2 NA19090.hp2 NA20805.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0003c0005 a0004c0008 others(1): Show a0001c0001 a0003c0005 a0004c0008 a0005c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0003c0005t0003 a0004c0008t0003 a0005c0009t0020	a0001c0001t0002g0324 a0001c0001t0003g0001 a0001c0001t0003g0002 others(73): Show a0001c0001t0002g0324 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0010 a0001c0001t0003g0020 a0001c0001t0003g0103 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0139 a0001c0001t0003g0141 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0168 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0213 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0332 a0001c0001t0004g0062 a0001c0001t0004g0063 a0001c0001t0004g0102 a0001c0001t0004g0318 a0001c0001t0004g0319 a0001c0001t0004g0325 a0001c0001t0013g0156 a0003c0005t0003g0001 a0003c0005t0003g0108 a0003c0005t0003g0130 a0003c0005t0003g0142 a0004c0008t0003g0202 a0005c0009t0020g0315	80	384	0.2083	-34	c.105 others(53): Show c.1058+2961_1058+2994delCTATATAAATATAAATATATATATAA ATATAAAT	ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ALKBH5_chr17_18178828_18214954	18201760	TAGATAGA others(27): Show TAGATAGATAGATAGATAGATAGATAGGATAGATA	T T	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	416	0.0024	-34	c.852 others(51): Show c.852-5028_852-4995delGATAGATAAGATAGATAGATAGATAGAT AGATAG	ALKBH5	ENSG00000091542.9	transcript	ENST00000399138.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr17	TogoVar
ALOXE3_chr17_8090900_8123514	8107960	AGGAAGGA others(27): Show AGGAAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02622.hp2 HG03490.hp1 HG00597.hp1 HG02622.hp2 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0012t0003 a0001c0001t0001 a0001c0001t0002 a0001c0012t0003	a0001c0001t0001g0007 a0001c0001t0002g0006 a0001c0012t0003g0392 a0001c0001t0001g0007 a0001c0001t0002g0006 a0001c0012t0003g0392	3	410	0.0073	-34	c.168 others(51): Show c.1684+474_1684+507delCTTTCTTTCTTTCTCTCTCTCTCTCTCT CCTTCC	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
ALPP_chr2_232373751_232387889	232385064	GGAAGAAG others(27): Show GGAAGAAGAAGAAGGAAGAAGAAGAAGAAGAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00609.hp2 others(32): Show HG00280.hp2 HG00408.hp1 HG00609.hp2 HG00738.hp2 HG01433.hp1 HG02055.hp1 HG02165.hp2 HG02559.hp1 HG02615.hp1 HG02683.hp1 HG02976.hp1 HG03579.hp1 HG03654.hp1 HG03710.hp2 NA18952.hp2 NA18969.hp1 NA18972.hp2 NA18973.hp1 NA18979.hp1 NA18986.hp2 NA18988.hp2 NA18998.hp1 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19064.hp2 NA19065.hp2 NA19074.hp2 NA19081.hp1	a0003 a0012 a0022 a0003 a0012 a0022	a0003c0003 a0003c0008 a0012c0020 others(1): Show a0003c0003 a0003c0008 a0012c0020 a0022c0036	a0003c0003t0002 a0003c0008t0002 a0012c0020t0002 others(1): Show a0003c0003t0002 a0003c0008t0002 a0012c0020t0002 a0022c0036t0002	a0003c0003t0002g0003 a0003c0003t0002g0006 a0003c0003t0002g0024 others(3): Show a0003c0003t0002g0003 a0003c0003t0002g0006 a0003c0003t0002g0024 a0003c0008t0002g0003 a0012c0020t0002g0003 a0022c0036t0002g0003	35	389	0.0900	-34	c.32 others(45): Show c.3270_*3303delGAAGAAGAAGAAGGAAGAAGAAGAAGAAGAAGAA	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2176		chr2	TogoVar
AMPH_chr7_38378704_38636373	38610297	AAAAGAAA others(27): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03130.hp2 NA20129.hp1 HG02809.hp2 HG03130.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0006 a0001c0001 a0001c0003 a0003c0006	a0001c0001t0004 a0001c0003t0002 a0003c0006t0004 a0001c0001t0004 a0001c0003t0002 a0003c0006t0004	a0001c0001t0004g0006 a0001c0003t0002g0005 a0003c0006t0004g0007 a0001c0001t0004g0006 a0001c0003t0002g0005 a0003c0006t0004g0007	3	246	0.0122	-34	c.69+ others(51): Show c.69+20952_69+20985delCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
ANAPC16_chr10_72211012_72240860	72218161	AAAAAATA others(27): Show AAAAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0174	1	285	0.0035	-34	c.-28 others(51): Show c.-28+2025_-28+2058delAAAATATATATATATATATATATATATA TATATA	ANAPC16	ENSG00000166295.9	transcript	ENST00000299381.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
ANAPC16_chr10_72211012_72240860	72218163	AAAATATA others(27): Show AAAATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03486.hp1 NA20129.hp2 HG02976.hp1 HG03486.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0025 a0001c0001t0009g0204 a0001c0001t0009g0025 a0001c0001t0009g0204	3	294	0.0102	-34	c.-28 others(51): Show c.-28+2027_-28+2060delAATATATATATATATATATATATATATA TATATA	ANAPC16	ENSG00000166295.9	transcript	ENST00000299381.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
ANAPC4_chr4_25372263_25423498	25376134	GCTCACTG others(27): Show GCTCACTGCAAGCTCCGCCTCACTGCAAGCCCCGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(105): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00423.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02155.hp2 HG02300.hp2 HG02523.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02818.hp1 HG02896.hp1 HG02897.hp2 HG03098.hp2 HG03130.hp2 HG03490.hp1 HG03492.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG04115.hp1 HG04228.hp2 NA18747.hp1 NA18906.hp1 NA18940.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18965.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18972.hp1 NA18978.hp1 NA18980.hp1 NA18981.hp1 NA18985.hp2 NA18995.hp1 NA19002.hp1 NA19004.hp1 NA19006.hp2 NA19009.hp1 NA19043.hp2 NA19056.hp1 NA19058.hp1 NA19062.hp2 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19081.hp1 NA19083.hp2 NA19085.hp1 NA19090.hp1 NA20129.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0006	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0004t0001 a0002c0006t0001	a0001c0001t0001g0044 a0001c0001t0001g0121 a0001c0001t0001g0148 others(47): Show a0001c0001t0001g0044 a0001c0001t0001g0121 a0001c0001t0001g0148 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0002t0001g0001 a0001c0002t0001g0006 a0001c0002t0001g0009 a0001c0002t0001g0013 a0001c0002t0001g0018 a0001c0002t0001g0043 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0115 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0173 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0230 a0001c0002t0003g0136 a0001c0003t0001g0166 a0001c0003t0001g0167 a0001c0003t0001g0168 a0001c0003t0001g0227 a0001c0004t0001g0165 a0002c0006t0001g0001 a0002c0006t0001g0045 a0002c0006t0001g0133	108	440	0.2455	-34	c.-12 others(45): Show c.-1220_-1187delCTCACTGCAAGCTCCGCCTCACTGCAAGCCCCGC	ANAPC4	ENSG00000053900.11	transcript	ENST00000315368.8	protein_coding		1128		chr4	TogoVar
ANGPTL1_chr1_178844535_178876077	178874414	GTGGTTAT others(27): Show GTGGTTATATTGGACAGCACAGTATAGCGAGTGAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0212 a0001c0001t0002g0212	1	422	0.0024	-34	c.-38 others(45): Show c.-3844_-3811delGTCACTCGCTATACTGTGCTGTCCAATATAACCA	ANGPTL1	ENSG00000116194.13	transcript	ENST00000234816.7	protein_coding		3338		chr1	TogoVar
ANHX_chr12_133213312_133240877	133235748	CCCCCCTG others(27): Show CCCCCCTGCCCCCGCGCGTCCCTCATCCTCCCGGA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02717.hp1 NA19043.hp1 HG02055.hp1 HG02717.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0011 a0001c0001t0001 a0002c0002t0002 a0002c0002t0011	a0001c0001t0001g0064 a0002c0002t0002g0065 a0002c0002t0011g0063 a0001c0001t0001g0064 a0002c0002t0002g0065 a0002c0002t0011g0063	3	440	0.0068	-34	c.-23 others(47): Show c.-23+25_-23+58delTCCGGGAGGATGAGGGACGCGCGGGGGCAGGG GG	ANHX	ENSG00000227059.7	transcript	ENST00000545940.6	protein_coding	1/9			chr12	TogoVar
ANKAR_chr2_189669670_189751647	189742833	GACACACA others(27): Show GACACACACACACACACACATTAGAATTACCTGAC	G G	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	290	0.0034	-34	c.381 others(51): Show c.3811-422_3811-389delTTAGAATTACCTGACACACACACACACA CACACA	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189742905	GACACACA others(27): Show GACACACACACACACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03486.hp1 HG02965.hp1 HG03486.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0024 a0001c0001 a0013c0024	a0001c0001t0001 a0013c0024t0001 a0001c0001t0001 a0013c0024t0001	a0001c0001t0001g0093 a0013c0024t0001g0268 a0001c0001t0001g0093 a0013c0024t0001g0268	2	42	0.0476	-34	c.381 others(51): Show c.3811-327_3811-294delACACACACACACACACACACACACACAC ACACAC	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKHD1_chr5_140396833_140544849	140458963	TATATATA others(27): Show TATATATATATATATATGCATATATATATATATGC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01069.hp2 HG01106.hp2 others(3): Show HG00323.hp1 HG01069.hp2 HG01106.hp2 HG01261.hp2 HG03831.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0166 a0001c0001t0001g0172 others(3): Show a0001c0001t0001g0021 a0001c0001t0001g0166 a0001c0001t0001g0172 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0205	6	318	0.0189	-34	c.148 others(51): Show c.1480+118_1480+151delGCATATATATATATATGCATATATATAT ATATAT	ANKHD1	ENSG00000131503.21	transcript	ENST00000360839.7	protein_coding	8/33		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKIB1_chr7_92240974_92406383	92371950	GGTGTGTG others(27): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0131 a0001c0002t0001g0131	1	42	0.0238	-34	c.161 others(51): Show c.1617+372_1617+405delGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	ANKIB1	ENSG00000001629.10	transcript	ENST00000265742.8	protein_coding	11/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
ANKMY1_chr2_240474422_240562988	240498491	GGGGGGTG others(27): Show GGGGGGTGTGCGGGCAGCTGTGGGGGTGGAGCTGA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0187 a0001c0027t0001g0187	1	318	0.0031	-34	c.280 others(53): Show c.2806+1433_2806+1466delTCAGCTCCACCCCCACAGCTGCCCGC ACACCCCC	ANKMY1	ENSG00000144504.16	transcript	ENST00000401804.6	protein_coding	15/17			chr2	TogoVar
ANKRD34B_chr5_80551755_80575280	80553424	CGTCTCTA others(27): Show CGTCTCTACTTAAAAGAAAAATTTAGCCAAGCGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02809.hp2 HG02970.hp2 others(5): Show HG02257.hp2 HG02809.hp2 HG02970.hp2 HG03209.hp2 NA18522.hp1 NA18522.hp2 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0015 a0001c0001t0001 a0001c0001t0011 a0001c0001t0015	a0001c0001t0001g0010 a0001c0001t0001g0291 a0001c0001t0001g0297 others(4): Show a0001c0001t0001g0010 a0001c0001t0001g0291 a0001c0001t0001g0297 a0001c0001t0001g0328 a0001c0001t0001g0335 a0001c0001t0011g0037 a0001c0001t0015g0318	8	390	0.0205	-34	c.50 others(45): Show c.5017_*5050delCACGCTTGGCTAAATTTTTCTTTTAAGTAGAGAC	ANKRD34B	ENSG00000189127.8	transcript	ENST00000338682.8	protein_coding		3330		chr5	TogoVar
ANKRD36C_chr2_95844548_95996824	95963944	AATATATA others(27): Show AATATATATATATAAATATATATATATAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01109.hp2 HG01192.hp1 others(14): Show HG00597.hp2 HG01109.hp2 HG01192.hp1 HG01884.hp1 HG01978.hp1 HG02055.hp2 HG02056.hp1 HG02280.hp1 HG02717.hp2 HG03239.hp1 HG03579.hp1 HG04115.hp2 NA18906.hp2 NA18949.hp2 NA18982.hp1 NA19065.hp2 NA19068.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0001c0006 a0001c0008 others(5): Show a0001c0003 a0001c0006 a0001c0008 a0002c0004 a0002c0005 a0002c0007 a0002c0011 a0004c0051	a0001c0003t0001 a0001c0006t0001 a0001c0008t0001 others(5): Show a0001c0003t0001 a0001c0006t0001 a0001c0008t0001 a0002c0004t0001 a0002c0005t0001 a0002c0007t0001 a0002c0011t0001 a0004c0051t0001	a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0149 others(14): Show a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0149 a0001c0003t0001g0276 a0001c0006t0001g0142 a0001c0006t0001g0284 a0001c0008t0001g0279 a0002c0004t0001g0187 a0002c0004t0001g0261 a0002c0005t0001g0185 a0002c0005t0001g0219 a0002c0005t0001g0223 a0002c0005t0001g0246 a0002c0007t0001g0206 a0002c0007t0001g0208 a0002c0011t0001g0005 a0004c0051t0001g0154	17	185	0.0919	-34	c.800 others(51): Show c.800-1431_800-1398delATATATTTATATATATATATTTATATAT ATATAT	ANKRD36C	ENSG00000174501.15	transcript	ENST00000295246.7	protein_coding	6/87			chr2	TogoVar
ANKS1A_chr6_34884255_35096406	34973887	ACTTCCCC others(27): Show ACTTCCCCTTCCCTTCCCCTTCCCCTTCCCTTCCC	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01192.hp1 HG00733.hp2 HG01192.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0004 a0001c0012t0004	a0001c0012t0004g0220 a0001c0012t0004g0221 a0001c0012t0004g0220 a0001c0012t0004g0221	2	200	0.0100	-34	c.435 others(51): Show c.435+3765_435+3798delCCCTTCCCCTTCCCCTTCCCTTCCCCTT CCCCTT	ANKS1A	ENSG00000064999.16	transcript	ENST00000360359.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr6	TogoVar
ANO3_chr11_26327130_26668289	26564724	CACACACA others(27): Show CACACACACATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0100 a0001c0003t0007g0100	1	181	0.0055	-34	c.144 others(53): Show c.1447+4947_1447+4980delCACACACATATATATATATATATATA TATATATA	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO4_chr12_100789776_101133629	100806508	GTTTTTTT others(27): Show GTTTTTTTTTTGTTTCGTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	232	0.0043	-34	c.-14 others(55): Show c.-141+11492_-141+11525delGTTTCGTTTTTTTTTTTTTTTTTT TTTTTTTTTT	ANO4	ENSG00000151572.18	transcript	ENST00000392977.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ANO4_chr12_100789776_101133629	100819002	CATATATA others(27): Show CATATATATATGTGTATATATATATGTATGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02559.hp2 HG01258.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0203 a0001c0001t0001g0204	2	234	0.0085	-34	c.-14 others(55): Show c.-141+24020_-141+24053delGTGTATATATATATGTATGTGTGT ATATATATAT	ANO4	ENSG00000151572.18	transcript	ENST00000392977.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ANO4_chr12_100789776_101133629	101104613	GTGTATGT others(27): Show GTGTATGTATGTGTGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	208	0.0048	-34	c.214 others(53): Show c.2149+4895_2149+4928delGTATGTATGTGTGTATATATATATAT ATATATAT	ANO4	ENSG00000151572.18	transcript	ENST00000392977.8	protein_coding	22/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ANO4_chr12_100789776_101133629	101104615	GTATGTAT others(27): Show GTATGTATGTGTGTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0181 a0001c0006t0004g0181	1	200	0.0050	-34	c.214 others(53): Show c.2149+4899_2149+4932delGTATGTGTGTATATATATATATATAT ATATATAT	ANO4	ENSG00000151572.18	transcript	ENST00000392977.8	protein_coding	22/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ANTXR2_chr4_79896146_80078229	79919863	TTTTATAT others(27): Show TTTTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0042 a0001c0001t0047g0042	1	65	0.0154	-34	c.142 others(55): Show c.1429-12430_1429-12397delTATATATATATATATATATATATA TATATATAAA	ANTXR2	ENSG00000163297.18	transcript	ENST00000403729.7	protein_coding	16/16			chr4	TogoVar
AP3S2_chr15_89825599_89898994	89844195	CTCTTTCT others(27): Show CTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	302	0.0033	-34	c.346 others(51): Show c.346-6507_346-6474delAAGAAAGAAAGAAAGAAAGAGAAAGAAA GAAAGA	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89844237	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	293	0.0034	-34	c.346 others(51): Show c.346-6549_346-6516delGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGA	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89844241	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00609.hp2 others(34): Show HG00099.hp2 HG00323.hp2 HG00609.hp2 HG01099.hp2 HG01123.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01361.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01978.hp2 HG01981.hp1 HG02055.hp1 HG02155.hp2 HG02258.hp1 HG02293.hp2 HG02698.hp1 HG02698.hp2 HG03669.hp1 HG03704.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18966.hp2 NA18990.hp2 NA18991.hp2 NA19058.hp2 NA19064.hp1 NA19065.hp2 NA19080.hp1 NA19081.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 others(4): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 a0001c0001t0022 a0001c0001t0034 a0001c0001t0037 a0001c0001t0039	a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0030 others(34): Show a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0080 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0283 a0001c0001t0010g0033 a0001c0001t0010g0050 a0001c0001t0010g0060 a0001c0001t0011g0044 a0001c0001t0011g0175 a0001c0001t0022g0162 a0001c0001t0034g0181 a0001c0001t0037g0049 a0001c0001t0039g0073	37	307	0.1205	-34	c.346 others(51): Show c.346-6553_346-6520delGAGAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGA	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89858505	GAGAGAGA others(27): Show GAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA18961.hp2 NA19010.hp1 others(1): Show HG01109.hp2 NA18961.hp2 NA19010.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0019 a0001c0001t0002 a0001c0001t0006 a0001c0001t0019	a0001c0001t0002g0183 a0001c0001t0002g0197 a0001c0001t0006g0273 others(1): Show a0001c0001t0002g0183 a0001c0001t0002g0197 a0001c0001t0006g0273 a0001c0001t0019g0217	4	310	0.0129	-34	c.345 others(53): Show c.345+12936_345+12969delTTCTTTCTTTCTTTCTCTCTCTCTCT CTCTCTCT	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
APBA1_chr9_69422532_69677371	69523502	TATATATA others(27): Show TATATATATATATATATATATATATATATATAGAC	T T	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02965.hp2 NA18979.hp2 HG02698.hp2 HG02965.hp2 NA18979.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0012 a0002c0002t0003 a0001c0001t0001 a0001c0001t0012 a0002c0002t0003	a0001c0001t0001g0086 a0001c0001t0012g0025 a0002c0002t0003g0101 a0001c0001t0001g0086 a0001c0001t0012g0025 a0002c0002t0003g0101	3	208	0.0144	-34	c.-69 others(51): Show c.-69-6257_-69-6224delGTCTATATATATATATATATATATATAT ATATAT	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APOA4_chr11_116815700_116828304	116818404	ATATATAT others(27): Show ATATATATGAATTTATATATGAATATATATGAATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG02027.hp1 NA18944.hp2 others(11): Show HG00438.hp2 HG02027.hp1 NA18944.hp2 NA18947.hp2 NA18952.hp1 NA18960.hp2 NA18966.hp2 NA18967.hp1 NA18979.hp1 NA18998.hp1 NA19000.hp2 NA19012.hp1 NA19086.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	14	460	0.0304	-34	c.24 others(45): Show c.2429_*2462delAATTCATATATATTCATATATAAATTCATATATA	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding		2295		chr11	TogoVar
AQP6_chr12_49967947_49982139	49972146	GGGGAAAG others(27): Show GGGGAAAGCCTAGGGCATGGGTGACCATAGGGCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00642.hp1 HG00735.hp2 others(62): Show HG00597.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp2 HG01081.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01358.hp1 HG01361.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03710.hp2 HG03927.hp1 NA18522.hp1 NA18906.hp1 NA18941.hp1 NA18944.hp2 NA18954.hp1 NA18964.hp2 NA18985.hp1 NA18987.hp1 NA18992.hp2 NA18994.hp1 NA18999.hp2 NA19007.hp2 NA19043.hp2 NA19067.hp2 NA19074.hp1 NA19075.hp1 NA19078.hp2 NA19081.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0004t0012 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0022 a0002c0007t0006	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0002g0001 a0001c0001t0005g0002 a0001c0001t0006g0001 a0001c0001t0010g0001 a0001c0004t0012g0020 a0002c0002t0001g0003 a0002c0002t0002g0001 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0010 a0002c0002t0002g0019 a0002c0002t0002g0024 a0002c0002t0006g0003 a0002c0002t0022g0003 a0002c0007t0006g0003	65	445	0.1461	-34	c.-10 others(44): Show c.-1027_-994delGGGAAAGCCTAGGGCATGGGTGACCATAGGGCCA	AQP6	ENSG00000086159.14	transcript	ENST00000315520.10	protein_coding		800		chr12	TogoVar
AQP8_chr16_25211947_25233932	25216145	CTTTCTTT others(27): Show CTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02056.hp2 HG02080.hp1 others(9): Show HG02027.hp2 HG02056.hp2 HG02080.hp1 HG02129.hp1 NA18942.hp1 NA18947.hp1 NA18948.hp2 NA18971.hp1 NA19058.hp2 NA19068.hp1 NA19091.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0007 a0001c0001t0001g0019 a0002c0002t0002g0009 others(5): Show a0001c0001t0001g0007 a0001c0001t0001g0019 a0002c0002t0002g0009 a0002c0002t0002g0011 a0002c0002t0002g0020 a0002c0002t0002g0052 a0002c0002t0002g0124 a0002c0002t0002g0160	12	273	0.0440	-34	c.-90 others(43): Show c.-900_-867delTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTT	AQP8	ENSG00000103375.11	transcript	ENST00000219660.6	protein_coding		801		chr16	TogoVar
ARAP2_chr4_36061004_36249514	36156391	GAAAGAAA others(27): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(147): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01346.hp1 HG01433.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp2 HG03041.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03654.hp2 HG03688.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18961.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18988.hp1 NA18988.hp2 NA18991.hp2 NA18993.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19078.hp1 NA19084.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp1	a0001 a0003 a0006 others(5): Show a0001 a0003 a0006 a0007 a0008 a0009 a0013 a0015	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0016 a0001c0023 a0003c0007 a0006c0010 a0007c0021 a0008c0013 a0009c0024 a0013c0018 a0015c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0016 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0022 a0001c0004t0025 a0001c0016t0003 a0001c0023t0003 a0003c0007t0003 a0006c0010t0004 a0007c0021t0009 a0008c0013t0008 a0009c0024t0003 a0013c0018t0002 a0015c0027t0003	a0001c0001t0001g0069 a0001c0001t0001g0082 a0001c0001t0001g0086 others(147): Show a0001c0001t0001g0069 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0149 a0001c0001t0001g0179 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0002g0011 a0001c0001t0002g0049 a0001c0001t0002g0068 a0001c0001t0002g0110 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0172 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0259 a0001c0001t0003g0012 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0118 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0188 a0001c0001t0003g0192 a0001c0001t0003g0195 a0001c0001t0003g0200 a0001c0001t0003g0229 a0001c0001t0003g0238 a0001c0001t0003g0248 a0001c0001t0003g0252 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0004g0092 a0001c0001t0004g0103 a0001c0001t0005g0052 a0001c0001t0005g0053 a0001c0001t0005g0066 a0001c0001t0005g0245 a0001c0001t0005g0246 a0001c0001t0005g0273 a0001c0001t0010g0274 a0001c0001t0011g0004 a0001c0001t0013g0005 a0001c0001t0019g0113 a0001c0001t0020g0198 a0001c0001t0023g0093 a0001c0001t0024g0137 a0001c0002t0001g0142 a0001c0002t0001g0213 a0001c0003t0001g0180 a0001c0003t0001g0181 a0001c0003t0001g0182 a0001c0003t0001g0230 a0001c0003t0002g0070 a0001c0003t0002g0076 a0001c0003t0002g0107 a0001c0003t0003g0057 a0001c0003t0003g0058 a0001c0003t0003g0071 a0001c0003t0003g0074 a0001c0003t0003g0075 a0001c0003t0003g0079 a0001c0003t0003g0080 a0001c0003t0003g0083 a0001c0003t0003g0085 a0001c0003t0003g0100 a0001c0003t0003g0228 a0001c0003t0016g0073 a0001c0004t0001g0062 a0001c0004t0001g0090 a0001c0004t0001g0269 a0001c0004t0002g0265 a0001c0004t0002g0267 a0001c0004t0003g0261 a0001c0004t0003g0262 a0001c0004t0003g0263 a0001c0004t0003g0266 a0001c0004t0003g0268 a0001c0004t0003g0270 a0001c0004t0003g0271 a0001c0004t0022g0264 a0001c0004t0025g0247 a0001c0016t0003g0260 a0001c0023t0003g0084 a0003c0007t0003g0072 a0003c0007t0003g0077 a0003c0007t0003g0081 a0003c0007t0003g0108 a0003c0007t0003g0109 a0006c0010t0004g0091 a0007c0021t0009g0117 a0008c0013t0008g0067 a0008c0013t0008g0112 a0009c0024t0003g0059 a0013c0018t0002g0240 a0015c0027t0003g0048	150	268	0.5597	-34	c.275 others(53): Show c.2752+2305_2752+2338delTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	ARAP2	ENSG00000047365.13	transcript	ENST00000303965.9	protein_coding	15/32			chr4	TogoVar
ARC_chr8_142606049_142619479	142615895	CACACACT others(27): Show CACACACTCATACCCCCCACTCATAGCTCCCACAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 NA18939.hp2 NA18950.hp2 others(1): Show HG02300.hp2 NA18939.hp2 NA18950.hp2 NA18956.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0003 a0001c0002t0003g0003	4	418	0.0096	-34	c.-16 others(45): Show c.-1658_-1625delATGTGGGAGCTATGAGTGGGGGGTATGAGTGTGT	ARC	ENSG00000198576.4	transcript	ENST00000356613.4	protein_coding		1417		chr8	TogoVar
ARHGAP10_chr4_147727088_148077776	147741767	TACACACA others(27): Show TACACACACACACACACACACACACGCACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	101	0.0099	-34	c.154 others(51): Show c.154+9337_154+9370delGCACACACACACACACACACACACACAC ACACAC	ARHGAP10	ENSG00000071205.12	transcript	ENST00000336498.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP10_chr4_147727088_148077776	147783811	AACACACA others(27): Show AACACACATTAAATTGTGTATTATATTTATATAAC	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01167.hp2 others(16): Show HG01070.hp1 HG01071.hp2 HG01167.hp2 HG01169.hp2 HG01243.hp1 HG01993.hp2 HG02056.hp1 HG02165.hp1 HG03239.hp2 HG03492.hp2 HG03710.hp2 HG04184.hp1 NA18612.hp2 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA19012.hp1 NA19043.hp2 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(16): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0057 a0001c0001t0002g0022 a0001c0002t0001g0012 a0001c0002t0001g0015 a0001c0002t0001g0018 a0002c0003t0001g0009 a0002c0003t0001g0031	19	99	0.1919	-34	c.155 others(53): Show c.155-38910_155-38877delCATTAAATTGTGTATTATATTTATAT AACACACA	ARHGAP10	ENSG00000071205.12	transcript	ENST00000336498.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP10_chr4_147727088_148077776	147798755	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATA	C C	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02451.hp1 HG03130.hp1 others(1): Show HG01993.hp1 HG02451.hp1 HG03130.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0036 a0001c0001t0001g0103 a0001c0001t0001g0104 others(1): Show a0001c0001t0001g0036 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0002t0001g0018	4	96	0.0417	-34	c.155 others(53): Show c.155-23970_155-23937delCTCTCTCTCTCTCTCTCTCTCTCTCT ATATATAT	ARHGAP10	ENSG00000071205.12	transcript	ENST00000336498.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP10_chr4_147727088_148077776	147798757	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03239.hp1 HG01261.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0017 a0001c0001t0002g0030 a0001c0001t0001g0017 a0001c0001t0002g0030	2	101	0.0198	-34	c.155 others(53): Show c.155-23968_155-23935delCTCTCTCTCTCTCTCTCTCTCTCTAT ATATATAT	ARHGAP10	ENSG00000071205.12	transcript	ENST00000336498.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP10_chr4_147727088_148077776	147798759	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0028	1	100	0.0100	-34	c.155 others(53): Show c.155-23966_155-23933delCTCTCTCTCTCTCTCTCTCTCTATAT ATATATAT	ARHGAP10	ENSG00000071205.12	transcript	ENST00000336498.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP10_chr4_147727088_148077776	147912548	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0092 a0001c0011t0001g0092	1	3	0.3333	-34	c.116 others(51): Show c.1163-508_1163-475delTATATATATATATATATATATATATATA TATATA	ARHGAP10	ENSG00000071205.12	transcript	ENST00000336498.8	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP15_chr2_143124419_143773352	143392180	TTATACTT others(27): Show TTATACTTTTCCAAATACTTACTACTTTTATTCTC	T T	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	160	0.0063	-34	c.475 others(53): Show c.475-43419_475-43386delATACTTTTCCAAATACTTACTACTTT TATTCTCT	ARHGAP15	ENSG00000075884.14	transcript	ENST00000295095.11	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGAP15_chr2_143124419_143773352	143542703	AATATATA others(27): Show AATATATATGATATATATAATATCACATATATAAT	A A	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0118 a0001c0002t0001g0118	1	158	0.0063	-34	c.926 others(53): Show c.926-13638_926-13605delATATATATATGATATATATAATATCA CATATATA	ARHGAP15	ENSG00000075884.14	transcript	ENST00000295095.11	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGAP15_chr2_143124419_143773352	143542770	ATATATAT others(27): Show ATATATATATGATATATATAATATCACATATATAG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	106	0.0094	-34	c.926 others(53): Show c.926-13596_926-13563delATGATATATATAATATCACATATATA GTATATAT	ARHGAP15	ENSG00000075884.14	transcript	ENST00000295095.11	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ARHGAP21_chr10_24578614_24728887	24689841	TATATGTA others(27): Show TATATGTATATATGTATATGTATGTGTATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01261.hp2 HG01123.hp2 HG01261.hp2	a0002 a0015 a0002 a0015	a0002c0002 a0015c0020 a0002c0002 a0015c0020	a0002c0002t0001 a0015c0020t0001 a0002c0002t0001 a0015c0020t0001	a0002c0002t0001g0071 a0015c0020t0001g0113 a0002c0002t0001g0071 a0015c0020t0001g0113	2	350	0.0057	-34	c.64- others(51): Show c.64-19478_64-19445delGTATATATACACATACATATACATATAT ACATAT	ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	2/25			chr10	TogoVar
ARHGAP24_chr4_85470150_86007666	85894967	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAAACAAAACAAAAAGC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0074 a0001c0001t0005g0074	1	108	0.0093	-34	c.269 others(53): Show c.269-28660_269-28627delACAAAACAAAAAGCAAAAAAAAAAAA AAAAAAAA	ARHGAP24	ENSG00000138639.18	transcript	ENST00000395184.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP30_chr1_161041946_161074891	161064797	AAGAAAGA others(27): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	388	0.0026	-34	c.97+ others(49): Show c.97+4697_97+4730delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCT	ARHGAP30	ENSG00000186517.14	transcript	ENST00000368013.8	protein_coding	1/11			chr1	TogoVar
ARHGAP33_chr19_35770564_35793822	35791143	AGGAACAG others(27): Show AGGAACAGCAGGGCCTTTAGCACCTGCTGCAGCAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	418	0.0024	-34	c.27 others(45): Show c.2715_*2748delGGAACAGCAGGGCCTTTAGCACCTGCTGCAGCAG	ARHGAP33	ENSG00000004777.19	transcript	ENST00000007510.9	protein_coding		2322		chr19	TogoVar

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