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
GALNS_chr16_88808734_88861947	88834643	C C	CCGCGTGG others(28): Show CCGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCCG	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0178 a0001c0002t0008g0178	1	256	0.0039	35	c.898 others(50): Show c.898+569_898+570insCGGGGGGGCCCTGCAGCCTCTTCCCAGACC ACGCG	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	8/13			chr16	TogoVar
GALNS_chr16_88808734_88861947	88859959	C C	CGCATCCA others(28): Show CGCATCCAGTCCAGGTGGGCCCTACTTTCTGTGTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01175.hp1 HG02055.hp1 others(4): Show HG01167.hp2 HG01175.hp1 HG02055.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp1 NA19030.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0002c0003 others(1): Show a0001c0001 a0001c0004 a0002c0003 a0004c0005	a0001c0001t0001 a0001c0004t0009 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0004t0009 a0002c0003t0001 a0004c0005t0001	a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0004t0009g0165 others(4): Show a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0004t0009g0165 a0001c0004t0009g0166 a0002c0003t0001g0160 a0004c0005t0001g0137 a0004c0005t0001g0250	7	402	0.0174	35	c.-31 others(46): Show c.-3117_-3083dupAGACACAGAAAGTAGGGCCCACCTGGACTGGATG C	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding		3013		chr16	TogoVar
GALNS_chr16_88808734_88861947	88859980	C C	CTACTTTC others(28): Show CTACTTTCTGTGTCTGCATCCAGTCCAGGTGGGCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02145.hp2 others(15): Show HG01891.hp2 HG02109.hp1 HG02145.hp2 HG02280.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03516.hp1 NA21309.hp2	a0003 a0004 a0005 others(1): Show a0003 a0004 a0005 a0007	a0003c0006 a0003c0007 a0004c0005 others(2): Show a0003c0006 a0003c0007 a0004c0005 a0005c0012 a0007c0009	a0003c0006t0001 a0003c0007t0004 a0004c0005t0001 others(2): Show a0003c0006t0001 a0003c0007t0004 a0004c0005t0001 a0005c0012t0001 a0007c0009t0003	a0003c0006t0001g0018 a0003c0006t0001g0020 a0003c0006t0001g0025 others(15): Show a0003c0006t0001g0018 a0003c0006t0001g0020 a0003c0006t0001g0025 a0003c0006t0001g0067 a0003c0006t0001g0068 a0003c0006t0001g0117 a0003c0007t0004g0029 a0003c0007t0004g0118 a0004c0005t0001g0169 a0005c0012t0001g0021 a0005c0012t0001g0022 a0005c0012t0001g0023 a0005c0012t0001g0024 a0007c0009t0003g0111 a0007c0009t0003g0113 a0007c0009t0003g0114 a0007c0009t0003g0115 a0007c0009t0003g0116	18	387	0.0465	35	c.-31 others(46): Show c.-3104_-3103insAGGCCCACCTGGACTGGATGCAGACACAGAAAGT A	GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding		3034		chr16	TogoVar
GALNT17_chr7_71127144_71718599	71680342	C C	CTCTTCCT others(28): Show CTCTTCCTCCCTCCCTCTCTCCCTTCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	74	0.0135	35	c.150 others(54): Show c.1500+3061_1500+3062insTCCCTCCCTTTCTTCCTCCCTCCCTC TCTCCCTTC	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT2_chr1_230062238_230287122	230175601	G G	GTCCTCCT others(28): Show GTCCTCCTCCTCCTCCTCCTCCCCCTCCCTCTCCCC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00609.hp2 others(90): Show HG00423.hp1 HG00438.hp2 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG01106.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01255.hp2 HG01261.hp1 HG01515.hp2 HG01891.hp2 HG02040.hp1 HG02055.hp2 HG02145.hp2 HG02257.hp2 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18959.hp2 NA18962.hp2 NA18965.hp2 NA18967.hp1 NA18982.hp1 NA18983.hp2 NA18986.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19005.hp2 NA19009.hp1 NA19011.hp2 NA19043.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19077.hp2 NA19079.hp1 NA19084.hp2 NA19087.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0002c0004 a0002c0007 a0005c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(36): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0015 a0001c0001t0021 a0001c0001t0036 a0001c0001t0043 a0001c0001t0046 a0001c0001t0050 a0001c0001t0054 a0001c0001t0056 a0001c0001t0061 a0001c0001t0064 a0001c0001t0068 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0026 a0001c0002t0031 a0001c0002t0032 a0001c0003t0001 a0001c0003t0003 a0001c0003t0006 a0001c0003t0011 a0001c0003t0055 a0001c0003t0066 a0001c0006t0016 a0001c0008t0012 a0001c0009t0052 a0001c0010t0011 a0002c0004t0002 a0002c0004t0040 a0002c0007t0002 a0005c0015t0027	a0001c0001t0001g0151 a0001c0001t0001g0255 a0001c0001t0001g0257 others(90): Show a0001c0001t0001g0151 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0299 a0001c0001t0001g0315 a0001c0001t0003g0024 a0001c0001t0003g0115 a0001c0001t0003g0118 a0001c0001t0003g0205 a0001c0001t0003g0258 a0001c0001t0003g0290 a0001c0001t0004g0019 a0001c0001t0004g0120 a0001c0001t0004g0142 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0217 a0001c0001t0005g0213 a0001c0001t0007g0128 a0001c0001t0007g0183 a0001c0001t0008g0263 a0001c0001t0008g0305 a0001c0001t0008g0312 a0001c0001t0009g0208 a0001c0001t0013g0015 a0001c0001t0013g0016 a0001c0001t0013g0100 a0001c0001t0013g0267 a0001c0001t0013g0316 a0001c0001t0015g0013 a0001c0001t0015g0042 a0001c0001t0015g0289 a0001c0001t0021g0253 a0001c0001t0021g0282 a0001c0001t0036g0014 a0001c0001t0043g0044 a0001c0001t0046g0324 a0001c0001t0050g0168 a0001c0001t0054g0275 a0001c0001t0056g0027 a0001c0001t0061g0103 a0001c0001t0064g0086 a0001c0001t0068g0274 a0001c0002t0001g0009 a0001c0002t0001g0018 a0001c0002t0001g0030 a0001c0002t0001g0054 a0001c0002t0001g0122 a0001c0002t0001g0162 a0001c0002t0001g0170 a0001c0002t0001g0176 a0001c0002t0001g0230 a0001c0002t0001g0288 a0001c0002t0004g0069 a0001c0002t0005g0135 a0001c0002t0026g0195 a0001c0002t0031g0224 a0001c0002t0032g0222 a0001c0003t0001g0036 a0001c0003t0001g0097 a0001c0003t0001g0110 a0001c0003t0001g0197 a0001c0003t0001g0240 a0001c0003t0003g0311 a0001c0003t0006g0048 a0001c0003t0006g0052 a0001c0003t0006g0204 a0001c0003t0011g0200 a0001c0003t0011g0262 a0001c0003t0011g0297 a0001c0003t0011g0298 a0001c0003t0011g0314 a0001c0003t0055g0221 a0001c0003t0066g0071 a0001c0006t0016g0002 a0001c0006t0016g0003 a0001c0006t0016g0004 a0001c0008t0012g0310 a0001c0009t0052g0261 a0001c0010t0011g0306 a0002c0004t0002g0001 a0002c0004t0002g0075 a0002c0004t0002g0132 a0002c0004t0002g0154 a0002c0004t0002g0207 a0002c0004t0002g0233 a0002c0004t0002g0237 a0002c0004t0002g0251 a0002c0004t0040g0117 a0002c0007t0002g0074 a0002c0007t0002g0076 a0002c0007t0002g0228 a0005c0015t0027g0252	93	191	0.4869	35	c.127 others(52): Show c.127-2605_127-2604insTCCTCCTCCCCCTCCCTCTCCCCTCCTC CTCCTCC	GALNT2	ENSG00000143641.10	transcript	ENST00000366672.5	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
GALNT2_chr1_230062238_230287122	230275096	T T	TGTATACA others(28): Show TGTATACACACCACATATATATACATATATATACAC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0229 a0002c0004t0002g0229	1	322	0.0031	35	c.156 others(52): Show c.1560+533_1560+567dupGTATACACACCACATATATATACATATA TATACAC	GALNT2	ENSG00000143641.10	transcript	ENST00000366672.5	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
GALNT7_chr4_173163811_173328967	173288282	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	70	0.0143	35	c.588 others(52): Show c.588-3803_588-3802insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	GALNT7	ENSG00000109586.12	transcript	ENST00000265000.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172156559	A A	ATATACTA others(28): Show ATATACTATATATATATACTATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0020 a0001c0001t0006g0020	1	40	0.0250	35	c.139 others(54): Show c.139-73093_139-73092insCTATATATATATACTATATATATATA TATACTATA	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172606630	C C	CTATATAT others(28): Show CTATATATATACTATATATATAGTATATATATACTA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03139.hp1 HG03130.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0001 a0001c0001t0006 a0001c0002t0001	a0001c0001t0006g0020 a0001c0002t0001g0016 a0001c0001t0006g0020 a0001c0002t0001g0016	2	36	0.0556	35	c.554 others(56): Show c.554-202698_554-202664dupCTATATATATATACTATATATATA GTATATATATA	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GAP43_chr3_115618510_115726483	115672732	C C	CCCTCTCC others(28): Show CCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	64	0.0156	35	c.31- others(50): Show c.31-3277_31-3243dupCTCCTCTCCTCTCCTCTCCTCTCCTCTCCT CTCCT	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
GAP43_chr3_115618510_115726483	115698247	A A	ATTATATA others(28): Show ATTATATATATAATATATATAAAATATATATTATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00609.hp2 others(28): Show HG00438.hp2 HG00544.hp1 HG00609.hp2 HG00673.hp2 HG01496.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG02004.hp2 HG02083.hp2 HG02129.hp1 HG02148.hp1 HG02523.hp1 NA18747.hp2 NA18906.hp2 NA18954.hp1 NA18968.hp2 NA18971.hp1 NA18983.hp1 NA18986.hp2 NA18990.hp2 NA19010.hp1 NA19011.hp1 NA19066.hp1 NA19072.hp1 NA19077.hp1 NA19090.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015	a0001c0001t0001g0167 a0001c0001t0002g0271 a0001c0001t0002g0293 others(27): Show a0001c0001t0001g0167 a0001c0001t0002g0271 a0001c0001t0002g0293 a0001c0001t0003g0027 a0001c0001t0004g0003 a0001c0001t0004g0029 a0001c0001t0004g0057 a0001c0001t0004g0062 a0001c0001t0004g0132 a0001c0001t0004g0139 a0001c0001t0004g0143 a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0201 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0281 a0001c0001t0004g0286 a0001c0001t0004g0305 a0001c0001t0004g0329 a0001c0001t0015g0155	31	327	0.0948	35	c.628 others(54): Show c.628+21637_628+21638insTTATATATATAATATATATAAAATAT ATATTATAT	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2			chr3	TogoVar
GAP43_chr3_115618510_115726483	115698287	A A	AATATATA others(28): Show AATATATATATATTATATATAAAATATATATAATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(184): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02145.hp2 HG02258.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp2 HG03195.hp2 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18943.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18962.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18990.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19074.hp1 NA19080.hp2 NA19081.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0002t0001 a0001c0002t0017	a0001c0001t0001g0006 a0001c0001t0001g0026 a0001c0001t0001g0045 others(181): Show a0001c0001t0001g0006 a0001c0001t0001g0026 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0114 a0001c0001t0001g0125 a0001c0001t0001g0137 a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0210 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0232 a0001c0001t0001g0247 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0322 a0001c0001t0001g0334 a0001c0001t0001g0342 a0001c0001t0001g0346 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0022 a0001c0001t0002g0030 a0001c0001t0002g0036 a0001c0001t0002g0048 a0001c0001t0002g0060 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0115 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0159 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0179 a0001c0001t0002g0185 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0208 a0001c0001t0002g0211 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0231 a0001c0001t0002g0243 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0272 a0001c0001t0002g0275 a0001c0001t0002g0280 a0001c0001t0002g0285 a0001c0001t0002g0288 a0001c0001t0002g0292 a0001c0001t0002g0300 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0330 a0001c0001t0002g0333 a0001c0001t0002g0347 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0005 a0001c0001t0003g0013 a0001c0001t0003g0020 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0070 a0001c0001t0003g0075 a0001c0001t0003g0078 a0001c0001t0003g0080 a0001c0001t0003g0082 a0001c0001t0003g0117 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0162 a0001c0001t0003g0189 a0001c0001t0003g0196 a0001c0001t0003g0206 a0001c0001t0003g0214 a0001c0001t0003g0240 a0001c0001t0003g0242 a0001c0001t0003g0267 a0001c0001t0003g0273 a0001c0001t0003g0278 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0287 a0001c0001t0003g0295 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0004g0034 a0001c0001t0004g0113 a0001c0001t0004g0190 a0001c0001t0004g0279 a0001c0001t0005g0100 a0001c0001t0005g0101 a0001c0001t0006g0038 a0001c0001t0006g0118 a0001c0001t0006g0150 a0001c0001t0007g0033 a0001c0001t0007g0176 a0001c0001t0007g0274 a0001c0001t0008g0244 a0001c0001t0008g0245 a0001c0001t0009g0081 a0001c0001t0009g0188 a0001c0001t0011g0079 a0001c0001t0012g0301 a0001c0001t0014g0253 a0001c0001t0018g0331 a0001c0002t0001g0099 a0001c0002t0001g0102 a0001c0002t0001g0284 a0001c0002t0017g0310	187	197	0.9492	35	c.628 others(54): Show c.628+21687_628+21688insATTATATATAAAATATATATAATATA TATATATAT	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
GARRE1_chr19_34249554_34360566	34340438	T T	TTTTTCTT others(28): Show TTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02965.hp2 HG03209.hp1 HG01993.hp2 HG02965.hp2 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0008 a0001c0002t0003 a0001c0002t0008	a0001c0002t0003g0158 a0001c0002t0003g0166 a0001c0002t0008g0079 a0001c0002t0003g0158 a0001c0002t0003g0166 a0001c0002t0008g0079	3	12	0.2500	35	c.148 others(52): Show c.1487+448_1487+482dupTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCT	GARRE1	ENSG00000166398.14	transcript	ENST00000299505.8	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
GAS8_chr16_90017680_90049960	90042843	A A	AAACAGAC others(28): Show AAACAGACGTCATTCAACAGGGGAAGGGAGGGCGTG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0015 a0001c0016t0015	a0001c0016t0015g0312 a0001c0016t0015g0312	1	388	0.0026	35	c.128 others(52): Show c.1287+311_1288-316dupCAGACGTCATTCAACAGGGGAAGGGAGG GCGTGAA	GAS8	ENSG00000141013.17	transcript	ENST00000268699.9	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
GATA5_chr20_62458497_62480995	62471432	A A	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG01168.hp2 others(10): Show HG00140.hp1 HG00408.hp1 HG01168.hp2 HG02300.hp1 HG03654.hp1 HG04199.hp2 NA18942.hp1 NA18948.hp2 NA18978.hp2 NA18986.hp1 NA19079.hp2 NA19088.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0015 a0001c0002 a0002c0015	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(4): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0011 a0002c0015t0006	a0001c0002t0001g0007 a0001c0002t0001g0132 a0001c0002t0002g0114 others(7): Show a0001c0002t0001g0007 a0001c0002t0001g0132 a0001c0002t0002g0114 a0001c0002t0002g0133 a0001c0002t0002g0188 a0001c0002t0004g0110 a0001c0002t0005g0111 a0001c0002t0006g0112 a0001c0002t0011g0113 a0002c0015t0006g0221	13	134	0.0970	35	c.699 others(52): Show c.699+1970_699+1971insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding	3/6			chr20	TogoVar
GATA5_chr20_62458497_62480995	62477138	T T	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG01192.hp1 HG02071.hp1 others(3): Show HG00544.hp2 HG01192.hp1 HG02071.hp1 HG03669.hp2 HG04228.hp1 NA20129.hp2	a0002 a0002	a0002c0005 a0002c0006 a0002c0009 others(2): Show a0002c0005 a0002c0006 a0002c0009 a0002c0020 a0002c0031	a0002c0005t0001 a0002c0006t0001 a0002c0009t0003 others(2): Show a0002c0005t0001 a0002c0006t0001 a0002c0009t0003 a0002c0020t0001 a0002c0031t0007	a0002c0005t0001g0037 a0002c0005t0001g0228 a0002c0006t0001g0230 others(3): Show a0002c0005t0001g0037 a0002c0005t0001g0228 a0002c0006t0001g0230 a0002c0009t0003g0249 a0002c0020t0001g0231 a0002c0031t0007g0246	6	249	0.0241	35	c.-12 others(46): Show c.-1231_-1230insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA A	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1144		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477138	T T	TTTCTTTC others(28): Show TTTCTTTCTTTTTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0004	a0002c0006t0004g0218 a0002c0006t0004g0218	1	244	0.0041	35	c.-12 others(46): Show c.-1231_-1230insGAAAGAAAGAAAGAAAGAAAGAAAAAAAGAAAGA A	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1144		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477251	T T	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0118 a0001c0002t0001g0118	1	378	0.0026	35	c.-13 others(46): Show c.-1344_-1343insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA A	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1257		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477259	T T	TTTCCTTT others(28): Show TTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	380	0.0026	35	c.-13 others(46): Show c.-1352_-1351insGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGA A	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1265		chr20	TogoVar
GATA5_chr20_62458497_62480995	62477303	T T	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0266 a0001c0004t0007g0266	1	284	0.0035	35	c.-13 others(46): Show c.-1396_-1395insGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGA A	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		1309		chr20	TogoVar
GCFC2_chr2_75657705_75715915	75672177	A A	ATTTATAA others(28): Show ATTTATAAAATATATATTTATATATTTATAAATATG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0012 a0012	a0012c0021 a0012c0021	a0012c0021t0007 a0012c0021t0007	a0012c0021t0007g0160 a0012c0021t0007g0160	1	15	0.0667	35	c.189 others(52): Show c.1890-196_1890-162dupCATATTTATAAATATATAAATATATATT TTATAAA	GCFC2	ENSG00000005436.14	transcript	ENST00000321027.8	protein_coding	13/16			chr2	TogoVar
GCNT2_chr6_10516351_10634368	10534139	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	158	0.0063	35	c.925 others(52): Show c.925+4304_925+4305insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10516351_10634368	10563777	A A	AAATATAT others(28): Show AAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0300	1	187	0.0053	35	c.925 others(54): Show c.925+33942_925+33943insATATATATATATATATATATATATAT ATATATATA	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10516351_10634368	10582242	A A	AAAATATA others(28): Show AAAATATATATAATATATACTATATATTAAATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01361.hp1 HG02257.hp2 others(8): Show HG01346.hp2 HG01361.hp1 HG02257.hp2 HG02258.hp1 HG02486.hp1 HG02559.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03491.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0107 others(7): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0107 a0001c0001t0001g0162 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0197 a0001c0001t0001g0265 a0001c0001t0002g0045 a0001c0001t0004g0002	11	322	0.0342	35	c.926 others(54): Show c.926-39093_926-39059dupATACTATATATTAAATATATAAATAT ATATAATAT	GCNT2	ENSG00000111846.20	transcript	ENST00000495262.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10563777	A A	AAATATAT others(28): Show AAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	190	0.0053	35	c.919 others(52): Show c.919+6436_919+6437insATATATATATATATATATATATATATAT ATATATA	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT2_chr6_10550809_10634368	10569274	C C	CACACACA others(28): Show CACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	331	0.0030	35	c.919 others(54): Show c.919+11932_919+11933insACACACACACACACACACACACACAC ACACACACA	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2			chr6	TogoVar
GCNT2_chr6_10550809_10634368	10582242	A A	AAAATATA others(28): Show AAAATATATATAATATATACTATATATTAAATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01361.hp2 HG02257.hp2 others(8): Show HG01346.hp2 HG01361.hp2 HG02257.hp2 HG02258.hp1 HG02486.hp1 HG02559.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp2 HG03491.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0002t0001	a0001c0001t0001g0051 a0001c0001t0001g0104 a0001c0001t0001g0298 others(7): Show a0001c0001t0001g0051 a0001c0001t0001g0104 a0001c0001t0001g0298 a0001c0001t0002g0057 a0001c0001t0004g0275 a0001c0001t0004g0276 a0001c0001t0004g0278 a0001c0001t0006g0001 a0001c0002t0001g0279 a0001c0002t0001g0280	11	342	0.0322	35	c.919 others(54): Show c.919+24916_919+24950dupATACTATATATTAAATATATAAATAT ATATAATAT	GCNT2	ENSG00000111846.20	transcript	ENST00000316170.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GCNT4_chr5_75020346_75057558	75034898	G G	GCACCCCA others(28): Show GCACCCCAGCTAAGCGGACACGACCGCATTCAGGGA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02109.hp2 HG02615.hp2 others(1): Show HG00733.hp2 HG02109.hp2 HG02615.hp2 NA19054.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0014 a0002c0002t0002 a0002c0002t0014	a0002c0002t0002g0119 a0002c0002t0014g0107 a0002c0002t0014g0218 others(1): Show a0002c0002t0002g0119 a0002c0002t0014g0107 a0002c0002t0014g0218 a0002c0002t0014g0219	4	327	0.0122	35	c.-1- others(50): Show c.-1-4895_-1-4861dupTCCCTGAATGCGGTCGTGTCCGCTTAGCTG GGGTG	GCNT4	ENSG00000176928.7	transcript	ENST00000652361.2	protein_coding	3/3			chr5	TogoVar
GCSH_chr16_81076945_81101395	81080667	A A	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	272	0.0037	35	c.21 others(46): Show c.2198_*2199insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	GCSH	ENSG00000140905.11	transcript	ENST00000315467.9	protein_coding		1277		chr16	TogoVar
GDF6_chr8_96137333_96165806	96144291	A A	AGAGAGAG others(28): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0048 a0001c0002t0048	a0001c0002t0048g0248 a0001c0002t0048g0248	1	324	0.0031	35	c.27 others(44): Show c.271_*272insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	GDF6	ENSG00000156466.11	transcript	ENST00000287020.7	protein_coding	2/2	271		chr8	TogoVar
GET4_chr7_871554_901436	890415	C C	CGGGGTCT others(28): Show CGGGGTCTGGGAGTGGAGGGAGCGAGAGTGGGTGTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0054 a0001c0002t0006g0054	1	263	0.0038	35	c.467 others(50): Show c.467-510_467-509insGTCTGGGAGTGGAGGGAGCGAGAGTGGGTG TTGGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	893172	T T	TTGCAGGT others(28): Show TTGCAGGTGAGTGTTGGGCGCGGGCGCGGTGGTGTG	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA19086.hp1 NA18982.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0212 a0001c0001t0001g0201 a0001c0001t0001g0212	2	378	0.0053	35	c.747 others(50): Show c.747-548_747-514dupCGGGCGCGGTGGTGTGTGCAGGTGAGTGTT GGGCG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	893233	T T	TGGTGGTG others(28): Show TGGTGGTGTGTGCAGGTGAGTGTTGGGCGCGGGCGC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02896.hp2 HG03239.hp1 others(1): Show HG02258.hp1 HG02896.hp2 HG03239.hp1 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0009 a0001c0005 a0001c0006 a0001c0009	a0001c0005t0011 a0001c0006t0002 a0001c0009t0001 a0001c0005t0011 a0001c0006t0002 a0001c0009t0001	a0001c0005t0011g0254 a0001c0005t0011g0265 a0001c0006t0002g0253 others(1): Show a0001c0005t0011g0254 a0001c0005t0011g0265 a0001c0006t0002g0253 a0001c0009t0001g0243	4	373	0.0107	35	c.747 others(50): Show c.747-437_747-403dupCGGTGGTGTGTGCAGGTGAGTGTTGGGCGC GGGCG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	893268	C C	CGGTGGTG others(28): Show CGGTGGTGTGTGCAGGTGAGTGTTGGGCGTGGGCGT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	378	0.0026	35	c.747 others(50): Show c.747-444_747-443insTGGGCGTGGTGGTGTGTGCAGGTGAGTGTT GGGCG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	893347	T T	TTGCAGGT others(28): Show TTGCAGGTGAGTGTTGGGCGCGGGCGCGGTGGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00558.hp1 others(50): Show HG00323.hp1 HG00408.hp1 HG00558.hp1 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG01069.hp2 HG01074.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01928.hp2 HG01943.hp1 HG01978.hp2 HG01981.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02135.hp1 HG02273.hp2 HG02615.hp1 HG02738.hp1 HG02896.hp1 HG03491.hp1 HG03492.hp1 HG03579.hp2 HG03704.hp1 HG04184.hp2 NA18747.hp2 NA18946.hp2 NA18950.hp2 NA18953.hp1 NA18954.hp2 NA18959.hp1 NA18973.hp1 NA18979.hp1 NA18987.hp2 NA19002.hp1 NA19009.hp1 NA19011.hp2 NA19055.hp1 NA19058.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19074.hp1 NA19079.hp2 NA19081.hp2 NA19088.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0016 a0001c0017 others(1): Show a0001c0002 a0001c0016 a0001c0017 a0003c0018	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(10): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0019 a0001c0002t0020 a0001c0002t0021 a0001c0002t0030 a0001c0002t0035 a0001c0016t0001 a0001c0017t0002 a0003c0018t0002	a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0087 others(44): Show a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0087 a0001c0002t0001g0092 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0110 a0001c0002t0001g0116 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0269 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0079 a0001c0002t0002g0086 a0001c0002t0002g0088 a0001c0002t0002g0091 a0001c0002t0002g0093 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0104 a0001c0002t0002g0107 a0001c0002t0002g0109 a0001c0002t0002g0117 a0001c0002t0002g0214 a0001c0002t0003g0029 a0001c0002t0003g0081 a0001c0002t0003g0082 a0001c0002t0003g0097 a0001c0002t0003g0098 a0001c0002t0003g0111 a0001c0002t0003g0114 a0001c0002t0003g0115 a0001c0002t0005g0027 a0001c0002t0005g0028 a0001c0002t0006g0054 a0001c0002t0019g0094 a0001c0002t0020g0085 a0001c0002t0021g0113 a0001c0002t0030g0010 a0001c0002t0035g0103 a0001c0016t0001g0031 a0001c0017t0002g0053 a0003c0018t0002g0010	53	374	0.1417	35	c.747 others(50): Show c.747-376_747-375insCGCGGGCGCGGTGGTGTGTGCAGGTGAGTG TTGGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	897651	A A	AGGGGGCA others(28): Show AGGGGGCACCTGGGGAAGGGGGGGCACCTGGGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0140 a0001c0002t0001g0140	1	239	0.0042	35	c.22 others(46): Show c.2229_*2230insGGGGGCACCTGGGGAAGGGGGGGCACCTGGGGAA G	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding		1216		chr7	TogoVar
GET4_chr7_871554_901436	897667	A A	AGGGGGGC others(28): Show AGGGGGGCACCTGGGGAAGGGGGGCACCTGGGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0163 a0001c0001t0008g0163	1	337	0.0030	35	c.22 others(46): Show c.2245_*2246insGGGGGGCACCTGGGGAAGGGGGGCACCTGGGGAA G	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding		1232		chr7	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0030 a0001c0003t0001g0030	1	199	0.0050	35	c.41 others(46): Show c.4105_*4106insATATATATATATATATATTTTTTTTTTTTTTTTT T	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 NA18980.hp2 HG02717.hp2 NA18980.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0293 a0001c0003t0001g0303 a0001c0003t0001g0293 a0001c0003t0001g0303	2	200	0.0100	35	c.41 others(46): Show c.4105_*4106insATATATATATATATATATATTTTTTTTTTTTTTT T	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0254 a0001c0003t0001g0254	1	199	0.0050	35	c.41 others(46): Show c.4105_*4106insATATATATATATATATATATATTTTTTTTTTTTT T	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(28): Show AAAAAAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0018 a0001c0003t0001g0018	1	199	0.0050	35	c.41 others(46): Show c.4105_*4106insATATATATATATATATATATATATATTTTTTTTT T	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFRA1_chr10_116051925_116278206	116244362	T T	TTTAATAA others(28): Show TTTAATAATTAAAATTTAATTTTATTTCATTTAATG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp2 others(68): Show HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00621.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01074.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01516.hp1 HG01516.hp2 HG01981.hp2 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02083.hp1 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02257.hp1 HG02293.hp1 HG02451.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp2 HG02970.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03490.hp1 HG03492.hp2 HG03579.hp1 HG03710.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18960.hp2 NA18962.hp1 NA18968.hp2 NA18969.hp1 NA18975.hp1 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18995.hp2 NA19000.hp1 NA19065.hp1 NA19070.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19083.hp2 NA19084.hp1 NA19087.hp2 NA19240.hp1 NA20905.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0004 a0003c0006 a0004c0008 a0005c0009 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(60): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0020 a0001c0001t0038 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0047 a0001c0001t0049 a0001c0001t0057 a0001c0001t0064 a0001c0001t0066 a0001c0001t0069 a0001c0001t0087 a0001c0001t0090 a0001c0001t0104 a0001c0001t0110 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0012 a0001c0002t0014 a0001c0002t0017 a0001c0002t0021 a0001c0002t0033 a0001c0002t0055 a0001c0002t0056 a0001c0002t0058 a0001c0002t0065 a0001c0002t0067 a0001c0002t0073 a0001c0002t0075 a0001c0002t0079 a0001c0002t0081 a0001c0002t0083 a0001c0002t0091 a0001c0002t0129 a0001c0005t0046 a0001c0005t0052 a0001c0005t0068 a0002c0003t0008 a0002c0003t0011 a0002c0003t0012 a0002c0003t0034 a0002c0003t0039 a0002c0003t0062 a0002c0004t0050 a0002c0004t0084 a0003c0006t0023 a0004c0008t0009 a0005c0009t0086 a0007c0007t0002	a0001c0001t0001g0041 a0001c0001t0002g0029 a0001c0001t0003g0204 others(68): Show a0001c0001t0001g0041 a0001c0001t0002g0029 a0001c0001t0003g0204 a0001c0001t0007g0021 a0001c0001t0007g0025 a0001c0001t0008g0031 a0001c0001t0010g0179 a0001c0001t0010g0185 a0001c0001t0013g0194 a0001c0001t0015g0181 a0001c0001t0017g0211 a0001c0001t0020g0030 a0001c0001t0038g0151 a0001c0001t0042g0207 a0001c0001t0043g0205 a0001c0001t0044g0209 a0001c0001t0047g0195 a0001c0001t0049g0203 a0001c0001t0057g0189 a0001c0001t0064g0154 a0001c0001t0066g0192 a0001c0001t0069g0202 a0001c0001t0087g0017 a0001c0001t0090g0007 a0001c0001t0104g0042 a0001c0001t0110g0043 a0001c0002t0001g0039 a0001c0002t0002g0013 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0037 a0001c0002t0003g0186 a0001c0002t0003g0188 a0001c0002t0003g0212 a0001c0002t0007g0022 a0001c0002t0009g0023 a0001c0002t0010g0180 a0001c0002t0011g0199 a0001c0002t0012g0208 a0001c0002t0014g0196 a0001c0002t0017g0191 a0001c0002t0021g0036 a0001c0002t0033g0044 a0001c0002t0055g0198 a0001c0002t0056g0197 a0001c0002t0058g0213 a0001c0002t0065g0201 a0001c0002t0067g0200 a0001c0002t0073g0034 a0001c0002t0075g0038 a0001c0002t0079g0014 a0001c0002t0081g0012 a0001c0002t0083g0015 a0001c0002t0091g0033 a0001c0002t0129g0051 a0001c0005t0046g0176 a0001c0005t0052g0174 a0001c0005t0068g0175 a0002c0003t0008g0024 a0002c0003t0011g0178 a0002c0003t0012g0193 a0002c0003t0034g0001 a0002c0003t0034g0040 a0002c0003t0039g0206 a0002c0003t0062g0190 a0002c0004t0050g0210 a0002c0004t0084g0032 a0003c0006t0023g0048 a0004c0008t0009g0004 a0005c0009t0086g0005 a0007c0007t0002g0003	71	210	0.3381	35	c.418 others(54): Show c.418+25106_418+25140dupCATTAAATGAAATAAAATTAAATTTT AATTATTAA	GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	4/10			chr10	TogoVar
GFRA1_chr10_116051925_116278206	116244381	T T	TTTTATTT others(28): Show TTTTATTTCATTTAATGTTAATAATTAAAATTTAAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0133 a0002c0003t0001g0133	1	212	0.0047	35	c.418 others(54): Show c.418+25121_418+25122insGTTAAATTTTAATTATTAACATTAAA TGAAATAAA	GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	4/10			chr10	TogoVar
GFRA2_chr8_21685398_21793875	21694075	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0134 a0002c0002t0002g0134	1	151	0.0066	35	c.127 others(52): Show c.1272+388_1272+389insTATATATATATATATATATATATATATA TATATAT	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	8/8			chr8	TogoVar
GHR_chr5_42418439_42726878	42576099	T T	TAAAATAA others(28): Show TAAAATAAAATAAAATAAAAAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0180 a0001c0001t0004g0180	1	88	0.0114	35	c.70+ others(52): Show c.70+10158_70+10159insATAAAATAAAATAAAAAAAATAAAATAA AATAAAA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42576099	T T	TAAAATAA others(28): Show TAAAATAAAATAAAATAAAATAAAATAAAATAAATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0064 a0003c0003t0003g0064	1	88	0.0114	35	c.70+ others(52): Show c.70+10158_70+10159insATAAAATAAAATAAAATAAAATAAAATA AATAAAA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42576099	T T	TAAAATAA others(28): Show TAAAATAAAATAAAATAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0060 a0001c0001t0014g0060	1	88	0.0114	35	c.70+ others(52): Show c.70+10158_70+10159insATAAAATAAAATAAATAAAATAAAATAA AATAAAA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GJA10_chr6_89889469_89901120	89898084	T T	TCTTTCCT others(28): Show TCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	271	0.0037	35	c.19 others(46): Show c.1984_*1985insCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT C	GJA10	ENSG00000135355.4	transcript	ENST00000369352.1	protein_coding		1965		chr6	TogoVar
GK_chrX_30648423_30736462	30664065	T T	TTTTATAG others(28): Show TTTTATAGATATATATTTTATATATATCTATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp2 HG02809.hp2 others(4): Show HG01891.hp2 HG02109.hp2 HG02809.hp2 HG02818.hp2 HG02976.hp1 HG03540.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 others(1): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013	a0001c0001t0005g0105 a0001c0001t0005g0197 a0001c0001t0007g0103 others(4): Show a0001c0001t0005g0105 a0001c0001t0005g0197 a0001c0001t0007g0103 a0001c0001t0007g0104 a0001c0001t0008g0106 a0001c0001t0008g0165 a0001c0001t0013g0108	7	284	0.0246	35	c.79- others(50): Show c.79-1442_79-1408dupATAGATATATATTTTATATATATCTATATA TATTT	GK	ENSG00000198814.14	transcript	ENST00000427190.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
GK_chrX_30648423_30736462	30664101	T T	TTTTATAG others(28): Show TTTTATAGATATATATTTTATATATATCTATATATA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG02622.hp2 others(7): Show HG01515.hp1 HG01517.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02976.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0181 a0001c0001t0003g0014 a0001c0001t0003g0015 others(7): Show a0001c0001t0002g0181 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0137 a0001c0001t0003g0144 a0001c0001t0004g0182	10	281	0.0356	35	c.79- others(50): Show c.79-1387_79-1386insTATCTATATATATTTATAGATATATATTTT ATATA	GK	ENSG00000198814.14	transcript	ENST00000427190.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar

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