Joint Open Genome and Omics Platform (JoGo)

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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
GABBR2_chr9_98283109_98713935	98492349	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp1 HG00738.hp1 others(8): Show HG00099.hp1 HG00735.hp1 HG00738.hp1 HG01070.hp2 HG01346.hp1 HG01516.hp1 HG02572.hp1 HG02622.hp2 HG03041.hp1 HG03486.hp1 HG03492.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0028 a0002c0006 a0002c0008 a0002c0012 a0002c0023	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0047 a0001c0002t0021 a0001c0003t0028 a0001c0028t0010 a0002c0006t0007 a0002c0008t0007 a0002c0012t0002 a0002c0023t0004	a0001c0001t0001g0138 a0001c0001t0003g0065 a0001c0001t0010g0044 others(8): Show a0001c0001t0001g0138 a0001c0001t0003g0065 a0001c0001t0010g0044 a0001c0001t0047g0075 a0001c0002t0021g0114 a0001c0003t0028g0058 a0001c0028t0010g0014 a0002c0006t0007g0006 a0002c0008t0007g0059 a0002c0012t0002g0015 a0002c0023t0004g0129	11	164	0.0671	21	c.732 others(38): Show c.732+4043_732+4063dupTTTTTTTTTTTTTTTTTTTTT	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	4/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98713794	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG03139.hp2 NA18522.hp1 HG02922.hp2 HG03139.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0009 a0001c0001 a0001c0003 a0002c0009	a0001c0001t0015 a0001c0003t0015 a0002c0009t0006 a0001c0001t0015 a0001c0003t0015 a0002c0009t0006	a0001c0001t0015g0020 a0001c0003t0015g0041 a0002c0009t0006g0109 a0001c0001t0015g0020 a0001c0003t0015g0041 a0002c0009t0006g0109	3	164	0.0183	21	c.-50 others(32): Show c.-5058_-5057insTTTTTTTTTTTTTTTTTTTTT	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding		4860		chr9	TogoVar
GABPA_chr21_25729972_25777460	25730736	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	376	0.0027	21	c.-48 others(32): Show c.-4869_-4868insAAAAAAAAAAAAAAAAAAAAA	GABPA	ENSG00000154727.11	transcript	ENST00000400075.4	protein_coding		4235		chr21	TogoVar
GABPB1_chr15_50270389_50360198	50282560	G G	GAAAAAAA others(14): Show GAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03486.hp1 NA19030.hp2 HG02145.hp1 HG03486.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0267 a0001c0001t0004g0274 a0001c0001t0004g0303 a0001c0001t0004g0267 a0001c0001t0004g0274 a0001c0001t0004g0303	3	366	0.0082	21	c.999 others(38): Show c.999+3507_999+3508insTTTTTTTTTTTTTTTTTTTTT	GABPB1	ENSG00000104064.18	transcript	ENST00000380877.8	protein_coding	8/8			chr15	TogoVar
GABRA2_chr4_46238548_46395128	46390202	T T	TCCCCCCC others(14): Show TCCCCCCCCTCCCCCCCCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0187 a0001c0002t0187	a0001c0002t0187g0244 a0001c0002t0187g0244	1	258	0.0039	21	c.-47 others(30): Show c.-479_-478insGGAGGGGGGGGGAGGGGGGGG	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding		75		chr4	TogoVar
GABRB2_chr5_161283436_161551725	161416696	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01074.hp2 HG01167.hp1 others(13): Show HG00408.hp1 HG01074.hp2 HG01167.hp1 HG03017.hp2 NA18747.hp2 NA18946.hp1 NA18954.hp2 NA18962.hp2 NA18969.hp1 NA18983.hp1 NA19003.hp2 NA19005.hp1 NA19074.hp1 NA19074.hp2 NA19082.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0029 a0002c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0035 others(13): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0035 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0104 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0237 a0001c0001t0003g0074 a0001c0001t0005g0196 a0001c0001t0005g0213 a0001c0001t0007g0209 a0001c0001t0007g0211 a0001c0001t0029g0085 a0002c0004t0001g0086	16	266	0.0602	21	c.459 others(38): Show c.459-5660_459-5640dupTTTTTTTTTTTTTTTTTTTTT	GABRB2	ENSG00000145864.14	transcript	ENST00000393959.6	protein_coding	4/9			chr5	TogoVar
GABRB3_chr15_26538552_26778066	26554207	A A	ATATATAT others(14): Show ATATATATATATATATATTATT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0167 a0001c0001t0003g0167	1	204	0.0049	21	c.108 others(40): Show c.1081-6074_1081-6073insAATAATATATATATATATATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26586425	C C	CACACACA others(14): Show CACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0020 a0001c0002t0007g0020	1	204	0.0049	21	c.462 others(38): Show c.462-3012_462-3011insTGTGTGTGTGTGTGTGTGTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	4/8			chr15	TogoVar
GABRB3_chr15_26538552_26778066	26635010	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01515.hp1 HG01433.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0085 a0001c0001t0003g0144 a0001c0001t0001g0085 a0001c0001t0003g0144	2	204	0.0098	21	c.241 others(40): Show c.241-13477_241-13476insATATATATATATATATATATA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GABRG3_chr15_26966181_27546984	27062434	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01243.hp1 others(5): Show HG01070.hp1 HG01071.hp1 HG01243.hp1 HG01433.hp1 HG01517.hp1 HG01981.hp1 HG02698.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0002t0033	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0076 others(5): Show a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0076 a0001c0001t0001g0091 a0001c0001t0007g0014 a0001c0002t0001g0041 a0001c0002t0001g0049 a0001c0002t0033g0030	8	92	0.0870	21	c.270 others(40): Show c.270+35617_270+35637dupAAAAAAAAAAAAAAAAAAAAA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27336234	G G	GAGAGAGA others(14): Show GAGAGAGAGAGAGAGAGAGAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03453.hp1 HG03098.hp2 HG03453.hp1	a0001 a0001	a0001c0009 a0001c0011 a0001c0009 a0001c0011	a0001c0009t0002 a0001c0011t0018 a0001c0009t0002 a0001c0011t0018	a0001c0009t0002g0089 a0001c0011t0018g0004 a0001c0009t0002g0089 a0001c0011t0018g0004	2	92	0.0217	21	c.574 others(38): Show c.574+7346_574+7347insAGAGAGAGAGAGAGAGAGAAA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9			chr15	TogoVar
GABRG3_chr15_26966181_27546984	27518195	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0015 a0001c0004t0002g0015	1	92	0.0109	21	c.713 others(38): Show c.713-1776_713-1756dupAAAAAAAAAAAAAAAAAAAAA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRR3_chr3_97980102_98040315	98026602	G G	GTCATCAT others(14): Show GTCATCATCATCATCATTAGCA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp2 HG01109.hp1 others(99): Show HG00609.hp1 HG00621.hp2 HG01109.hp1 HG01192.hp2 HG01243.hp1 HG01346.hp1 HG01943.hp1 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02083.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp2 HG02602.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04184.hp2 HG04228.hp2 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18946.hp1 NA18947.hp2 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18968.hp1 NA18974.hp1 NA18979.hp1 NA18981.hp1 NA18990.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19058.hp2 NA19060.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19076.hp2 NA19079.hp1 NA19081.hp1 NA19084.hp2 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0001c0010 others(1): Show a0001c0001 a0001c0008 a0001c0010 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0008t0001 a0001c0010t0004 a0002c0002t0001 a0002c0002t0008 a0002c0002t0026	a0001c0001t0001g0014 a0001c0001t0001g0183 a0001c0001t0001g0189 others(92): Show a0001c0001t0001g0014 a0001c0001t0001g0183 a0001c0001t0001g0189 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0270 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0328 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0348 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0356 a0001c0001t0002g0162 a0001c0001t0003g0027 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0152 a0001c0001t0003g0165 a0001c0001t0003g0172 a0001c0001t0003g0181 a0001c0001t0004g0003 a0001c0001t0004g0017 a0001c0001t0004g0020 a0001c0001t0004g0188 a0001c0001t0004g0204 a0001c0001t0004g0218 a0001c0001t0004g0228 a0001c0001t0004g0231 a0001c0001t0004g0233 a0001c0001t0004g0234 a0001c0001t0004g0275 a0001c0001t0004g0279 a0001c0001t0004g0284 a0001c0001t0004g0286 a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0004g0295 a0001c0001t0004g0297 a0001c0001t0004g0299 a0001c0001t0004g0301 a0001c0001t0004g0302 a0001c0001t0004g0332 a0001c0001t0004g0335 a0001c0001t0004g0336 a0001c0001t0004g0347 a0001c0001t0004g0349 a0001c0001t0005g0015 a0001c0001t0005g0016 a0001c0001t0005g0214 a0001c0001t0005g0217 a0001c0001t0005g0265 a0001c0001t0005g0266 a0001c0001t0005g0300 a0001c0001t0005g0337 a0001c0001t0007g0028 a0001c0001t0007g0164 a0001c0001t0008g0355 a0001c0001t0009g0200 a0001c0001t0011g0171 a0001c0001t0011g0174 a0001c0001t0013g0077 a0001c0001t0016g0346 a0001c0001t0017g0184 a0001c0001t0019g0124 a0001c0001t0022g0173 a0001c0001t0024g0227 a0001c0001t0025g0209 a0001c0008t0001g0291 a0001c0010t0004g0358 a0002c0002t0001g0271 a0002c0002t0008g0226 a0002c0002t0026g0341	102	382	0.2670	21	c.126 others(36): Show c.126-924_126-923insTGCTAATGATGATGATGATGA	GABRR3	ENSG00000183185.10	transcript	ENST00000472788.6	protein_coding	2/9			chr3	TogoVar
GAD1_chr2_170811887_170866151	170828202	T T	TCCCTCTG others(14): Show TCCCTCTGCTGTCCTCGCCCTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00733.hp1 others(16): Show HG00140.hp2 HG00280.hp2 HG00733.hp1 HG01070.hp1 HG01081.hp2 HG01106.hp2 HG01192.hp1 HG01256.hp2 HG01981.hp2 HG03491.hp1 HG03834.hp2 HG04199.hp1 NA18946.hp2 NA18947.hp1 NA18954.hp2 NA19066.hp1 NA19068.hp2 NA19072.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0127 a0001c0001t0002g0039 a0001c0001t0002g0057 others(16): Show a0001c0001t0001g0127 a0001c0001t0002g0039 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0075 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0095 a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0002g0223 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0008g0379 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0002g0103	19	412	0.0461	21	c.146 others(38): Show c.146-1272_146-1271insCCTCTGCTGTCCTCGCCCTCC	GAD1	ENSG00000128683.14	transcript	ENST00000358196.8	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
GAD1_chr2_170811887_170866151	170840658	A A	AAGGGAGG others(14): Show AAGGGAGGTAGGGAAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02818.hp2 HG02965.hp1 others(1): Show HG01884.hp1 HG02818.hp2 HG02965.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0256 a0001c0001t0006g0257 a0001c0001t0006g0258 others(1): Show a0001c0001t0006g0256 a0001c0001t0006g0257 a0001c0001t0006g0258 a0001c0001t0006g0329	4	412	0.0097	21	c.639 others(38): Show c.639-3380_639-3379insTAGGGAAGGGAGGGAGGGAGG	GAD1	ENSG00000128683.14	transcript	ENST00000358196.8	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
GADL1_chr3_30721197_30899661	30805734	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18951.hp1 NA19002.hp2 HG00438.hp1 NA18951.hp1 NA19002.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0062 a0001c0001t0001g0086 a0002c0002t0001g0087 a0001c0001t0001g0062 a0001c0001t0001g0086 a0002c0002t0001g0087	3	282	0.0106	21	c.105 others(40): Show c.1051-4667_1051-4647dupAAAAAAAAAAAAAAAAAAAAA	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	11/14			chr3	TogoVar
GAK_chr4_844277_937316	902596	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0189 a0001c0002t0010g0189	1	390	0.0026	21	c.525 others(38): Show c.525+2040_525+2041insTTTTTTTTTTTTTTTTTTTTT	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	5/27			chr4	TogoVar
GAK_chr4_844277_937316	920539	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	390	0.0026	21	c.146 others(38): Show c.146-6892_146-6872dupAAAAAAAAAAAAAAAAAAAAA	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GALC_chr14_87928014_87998182	87936920	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	370	0.0027	21	c.191 others(40): Show c.1912-2043_1912-2042insATATATATATATATATATATA	GALC	ENSG00000054983.17	transcript	ENST00000261304.7	protein_coding	16/16			chr14	TogoVar
GALC_chr14_87928014_87998182	87936921	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0002 a0002c0025t0002	a0002c0025t0002g0164 a0002c0025t0002g0164	1	370	0.0027	21	c.191 others(40): Show c.1912-2044_1912-2043insTATATATATATATATATATAT	GALC	ENSG00000054983.17	transcript	ENST00000261304.7	protein_coding	16/16			chr14	TogoVar
GALC_chr14_87928014_87998182	87956564	T T	TATATATA others(14): Show TATATATATATACACACACACC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0267 a0001c0006t0001g0267	1	370	0.0027	21	c.116 others(40): Show c.1162-5837_1162-5817dupGGTGTGTGTGTATATATATAT	GALC	ENSG00000054983.17	transcript	ENST00000261304.7	protein_coding	10/16			chr14	TogoVar
GALK2_chr15_49165247_49336882	49228687	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19070.hp2 NA19006.hp2 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0190 a0001c0002t0004g0198 a0001c0002t0004g0190 a0001c0002t0004g0198	2	348	0.0058	21	c.267 others(38): Show c.267-7163_267-7162insATATATATATATATATTTTTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49228687	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0054 a0001c0002t0054	a0001c0002t0054g0184 a0001c0002t0054g0184	1	348	0.0029	21	c.267 others(38): Show c.267-7163_267-7162insATATATATATATATTTTTTTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49228687	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG04228.hp2 HG02273.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0171 a0001c0002t0004g0191 a0001c0002t0004g0171 a0001c0002t0004g0191	2	348	0.0058	21	c.267 others(38): Show c.267-7163_267-7162insATATATATATATTTTTTTTTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49228687	A A	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18957.hp2 HG03831.hp2 NA18957.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0176 a0001c0002t0004g0181 a0001c0002t0004g0176 a0001c0002t0004g0181	2	348	0.0058	21	c.267 others(38): Show c.267-7163_267-7162insATATATATATTTTTTTTTTTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALM_chr2_38661114_38739765	38703092	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA19240.hp1 HG02809.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0005 a0001c0001t0005 a0001c0003t0005	a0001c0001t0005g0205 a0001c0003t0005g0217 a0001c0001t0005g0205 a0001c0003t0005g0217	2	328	0.0061	21	c.634 others(40): Show c.634+13199_634+13200insATATATATATATATATATTTT	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALM_chr2_38661114_38739765	38703092	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	328	0.0031	21	c.634 others(40): Show c.634+13199_634+13200insATATATATATATATATTTTTT	GALM	ENSG00000143891.17	transcript	ENST00000272252.10	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT10_chr5_154185733_154425984	154293611	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0148 a0001c0001t0003g0148	1	236	0.0042	21	c.160 others(38): Show c.160-1204_160-1203insTTTTTTTTTTTTTTTTTTTTT	GALNT10	ENSG00000164574.16	transcript	ENST00000297107.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GALNT10_chr5_154185733_154425984	154378317	T T	TATCATCA others(14): Show TATCATCATCATCATCATCATC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	236	0.0042	21	c.754 others(38): Show c.754+1861_754+1881dupCATCATCATCATCATCATCAT	GALNT10	ENSG00000164574.16	transcript	ENST00000297107.11	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GALNT15_chr3_16169680_16235165	16233094	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG01069.hp2 others(16): Show HG00140.hp2 HG00639.hp1 HG01069.hp2 HG01167.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG02300.hp1 HG02683.hp2 HG02809.hp2 HG03130.hp1 HG03139.hp2 NA18945.hp1 NA18964.hp1 NA18977.hp1 NA19004.hp1 NA19004.hp2 NA19084.hp2 NA19088.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0012	a0001c0001 a0002c0003 a0002c0040 others(4): Show a0001c0001 a0002c0003 a0002c0040 a0003c0004 a0003c0008 a0003c0009 a0012c0028	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(8): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0047 a0002c0003t0004 a0002c0040t0019 a0003c0004t0006 a0003c0004t0045 a0003c0008t0010 a0003c0009t0006 a0012c0028t0019	a0001c0001t0002g0033 a0001c0001t0004g0012 a0001c0001t0004g0284 others(16): Show a0001c0001t0002g0033 a0001c0001t0004g0012 a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0004g0296 a0001c0001t0006g0082 a0001c0001t0006g0121 a0001c0001t0047g0345 a0002c0003t0004g0035 a0002c0003t0004g0036 a0002c0040t0019g0225 a0003c0004t0006g0160 a0003c0004t0006g0167 a0003c0004t0006g0337 a0003c0004t0006g0338 a0003c0004t0045g0008 a0003c0008t0010g0032 a0003c0009t0006g0048 a0012c0028t0019g0237	19	388	0.0490	21	c.55 others(32): Show c.5594_*5595insTTTTTTTTTTTTTTTTTTTTT	GALNT15	ENSG00000131386.20	transcript	ENST00000339732.10	protein_coding		2930		chr3	TogoVar
GALNT16_chr14_69255158_69359466	69264819	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03579.hp2 HG02809.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0012 a0001c0001t0010 a0001c0001t0012	a0001c0001t0010g0023 a0001c0001t0012g0022 a0001c0001t0010g0023 a0001c0001t0012g0022	2	306	0.0065	21	c.177 others(38): Show c.177+4363_177+4364insTTTTTTTTTTTTTTTTTTTTT	GALNT16	ENSG00000100626.17	transcript	ENST00000448469.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
GALNT16_chr14_69255158_69359466	69356554	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01074.hp1 HG01433.hp1 others(16): Show HG00738.hp1 HG01074.hp1 HG01433.hp1 HG01891.hp1 HG01891.hp2 HG02258.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02738.hp1 HG02895.hp2 HG02922.hp1 HG02970.hp2 HG03710.hp2 HG03942.hp2 HG04204.hp2 HG04228.hp2 NA18955.hp2 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0008 others(1): Show a0001c0001 a0001c0003 a0001c0008 a0002c0002	a0001c0001t0002 a0001c0001t0010 a0001c0003t0002 others(2): Show a0001c0001t0002 a0001c0001t0010 a0001c0003t0002 a0001c0008t0002 a0002c0002t0002	a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0028 others(16): Show a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0028 a0001c0001t0002g0073 a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0001t0002g0135 a0001c0001t0002g0229 a0001c0001t0002g0275 a0001c0001t0002g0277 a0001c0001t0002g0288 a0001c0001t0002g0290 a0001c0001t0010g0025 a0001c0001t0010g0026 a0001c0003t0002g0110 a0001c0008t0002g0191 a0002c0002t0002g0038 a0002c0002t0002g0148 a0002c0002t0002g0234	19	306	0.0621	21	c.43 others(32): Show c.4386_*4387insTTTTTTTTTTTTTTTTTTTTT	GALNT16	ENSG00000100626.17	transcript	ENST00000448469.8	protein_coding		2089		chr14	TogoVar
GALNT17_chr7_71127144_71718599	71377114	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0064 a0001c0001t0006g0064	1	76	0.0132	21	c.423 others(40): Show c.423-11120_423-11119insAAATATATATATATATATATA	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT1_chr18_35576740_35716834	35688466	T T	TAAATCTT others(14): Show TAAATCTTCCTTCATTTCTTAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	310	0.0032	21	c.861 others(36): Show c.861-706_861-686dupAAATCTTCCTTCATTTCTTAA	GALNT1	ENSG00000141429.14	transcript	ENST00000269195.6	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALNT2_chr1_230062238_230287122	230222031	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02896.hp2 HG03490.hp2 HG02486.hp1 HG02896.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0013 a0001c0003t0001 a0001c0003t0018 a0001c0001t0013 a0001c0003t0001 a0001c0003t0018	a0001c0001t0013g0309 a0001c0003t0001g0187 a0001c0003t0018g0288 a0001c0001t0013g0309 a0001c0003t0001g0187 a0001c0003t0018g0288	3	324	0.0093	21	c.375 others(40): Show c.375-13970_375-13969insTTTTTTTTTTTTTTTTTTTTT	GALNT2	ENSG00000143641.10	transcript	ENST00000366672.5	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
GALNT7_chr4_173163811_173328967	173216727	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	266	0.0038	21	c.127 others(40): Show c.127-31252_127-31251insATATATATATATATATATATT	GALNT7	ENSG00000109586.12	transcript	ENST00000265000.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL5_chr7_151951446_152024929	151990580	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0112 a0003c0003t0002g0112	1	384	0.0026	21	c.658 others(38): Show c.658+3311_658+3312insAAAAAAAAAAAAAAAAAAAAA	GALNTL5	ENSG00000106648.15	transcript	ENST00000392800.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNTL6_chr4_171808404_173046559	171824077	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	40	0.0250	21	c.138 others(38): Show c.138+9359_138+9360insATATATATATATATATATATA	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	2/12			chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172176337	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	40	0.0250	21	c.139 others(40): Show c.139-53300_139-53299insAAAAAAAAAAAAAAAAAAAAA	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALR1_chr18_77244848_77282900	77249627	G G	GCGCGCCC others(14): Show GCGCGCCCTGGAACGCCCTGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0085	a0001c0001t0085g0084 a0001c0001t0085g0084	1	366	0.0027	21	c.-92 others(30): Show c.-922_-921insCGCGCCCTGGAACGCCCTGGA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding		220		chr18	TogoVar
GALR1_chr18_77244848_77282900	77252887	C C	CCACCACC others(14): Show CCACCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0078 a0001c0001t0003g0078	1	366	0.0027	21	c.666 others(38): Show c.666+1681_666+1682insCCACCACCACCATCACCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77252950	T T	TCACCACC others(14): Show TCACCACCACCACCACCATCAC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0033 a0001c0001t0043g0033	1	366	0.0027	21	c.666 others(38): Show c.666+1744_666+1745insCCACCACCATCACCACCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77252992	C C	CCACCACC others(14): Show CCACCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0091 a0001c0001t0006g0091	1	366	0.0027	21	c.666 others(38): Show c.666+1798_666+1799insTCACCACCACCACCACCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77256523	A A	ACAGAGTG others(14): Show ACAGAGTGCAGAGTGCAGAGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00408.hp1 others(89): Show HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00558.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG01109.hp2 HG01175.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02015.hp1 HG02027.hp2 HG02083.hp1 HG02129.hp2 HG02135.hp2 HG02486.hp2 HG02683.hp2 HG02698.hp2 HG02738.hp2 HG02886.hp1 HG03490.hp2 HG03492.hp2 HG03669.hp2 HG03688.hp1 HG03927.hp1 HG03942.hp1 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp2 NA18968.hp1 NA18973.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19084.hp2 NA19085.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0003c0005 a0008c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(40): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0019 a0001c0001t0023 a0001c0001t0027 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0040 a0001c0001t0056 a0001c0001t0057 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0078 a0001c0001t0085 a0001c0001t0087 a0001c0001t0088 a0001c0001t0091 a0001c0001t0093 a0001c0001t0107 a0001c0001t0143 a0001c0001t0144 a0001c0001t0145 a0001c0001t0147 a0001c0001t0148 a0001c0001t0150 a0001c0001t0151 a0001c0002t0002 a0001c0002t0004 a0001c0002t0018 a0001c0002t0062 a0001c0002t0063 a0001c0002t0128 a0001c0002t0133 a0001c0004t0018 a0003c0005t0012 a0008c0014t0035	a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0079 others(86): Show a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0003g0078 a0001c0001t0003g0087 a0001c0001t0003g0112 a0001c0001t0005g0300 a0001c0001t0005g0317 a0001c0001t0006g0010 a0001c0001t0006g0082 a0001c0001t0006g0091 a0001c0001t0006g0096 a0001c0001t0006g0124 a0001c0001t0009g0090 a0001c0001t0011g0092 a0001c0001t0011g0120 a0001c0001t0011g0123 a0001c0001t0011g0252 a0001c0001t0011g0318 a0001c0001t0019g0229 a0001c0001t0019g0232 a0001c0001t0019g0234 a0001c0001t0019g0235 a0001c0001t0019g0236 a0001c0001t0023g0237 a0001c0001t0023g0243 a0001c0001t0023g0244 a0001c0001t0023g0245 a0001c0001t0027g0008 a0001c0001t0032g0230 a0001c0001t0032g0231 a0001c0001t0033g0075 a0001c0001t0033g0209 a0001c0001t0034g0106 a0001c0001t0034g0108 a0001c0001t0035g0102 a0001c0001t0040g0101 a0001c0001t0040g0118 a0001c0001t0056g0017 a0001c0001t0057g0309 a0001c0001t0057g0310 a0001c0001t0065g0072 a0001c0001t0066g0074 a0001c0001t0067g0105 a0001c0001t0078g0111 a0001c0001t0085g0084 a0001c0001t0087g0099 a0001c0001t0088g0077 a0001c0001t0091g0272 a0001c0001t0093g0113 a0001c0001t0107g0107 a0001c0001t0143g0242 a0001c0001t0144g0308 a0001c0001t0145g0233 a0001c0001t0147g0239 a0001c0001t0148g0238 a0001c0001t0150g0055 a0001c0001t0151g0104 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0004g0201 a0001c0002t0018g0213 a0001c0002t0062g0024 a0001c0002t0063g0026 a0001c0002t0128g0250 a0001c0002t0133g0187 a0001c0004t0018g0329 a0001c0004t0018g0330 a0001c0004t0018g0331 a0001c0004t0018g0332 a0003c0005t0012g0030 a0008c0014t0035g0103	92	366	0.2514	21	c.732 others(36): Show c.732+320_732+321insGCAGAGTGCAGAGTGCAGAGT	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77259060	G G	GTCATGGT others(14): Show GTCATGGTGGTGATGACGGTGA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02083.hp2 NA18970.hp1 others(4): Show HG00609.hp1 HG02083.hp2 NA18970.hp1 NA18971.hp2 NA18979.hp2 NA19057.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 others(4): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0001c0001t0089 a0001c0001t0102 a0001c0002t0060 a0001c0002t0128	a0001c0001t0003g0285 a0001c0001t0010g0286 a0001c0001t0011g0306 others(4): Show a0001c0001t0003g0285 a0001c0001t0010g0286 a0001c0001t0011g0306 a0001c0001t0089g0270 a0001c0001t0102g0041 a0001c0002t0060g0025 a0001c0002t0128g0250	7	366	0.0191	21	c.732 others(38): Show c.732+2838_732+2839insCATGGTGGTGATGACGGTGAT	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77281091	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02970.hp1 NA18970.hp2 HG02886.hp1 HG02970.hp1 NA18970.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0019 a0001c0002t0007 a0002c0003t0025 a0001c0001t0019 a0001c0002t0007 a0002c0003t0025	a0001c0001t0019g0235 a0001c0002t0007g0004 a0002c0003t0025g0126 a0001c0001t0019g0235 a0001c0002t0007g0004 a0002c0003t0025g0126	3	366	0.0082	21	c.12 others(34): Show c.12189_*12190insTATATATATATATATATATAT	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding		3192		chr18	TogoVar
GALR1_chr18_77244848_77282900	77281895	G G	GTTGATAA others(14): Show GTTGATAAAACAAGATAGATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00741.hp1 HG01167.hp1 others(26): Show HG00099.hp1 HG00741.hp1 HG01167.hp1 HG01168.hp2 HG01884.hp1 HG02145.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02615.hp2 HG02818.hp1 HG02818.hp2 HG02897.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03579.hp1 HG04199.hp2 NA18906.hp2 NA18944.hp2 NA18959.hp1 NA18964.hp2 NA19043.hp1 NA19088.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0006	a0001c0001t0042 a0001c0001t0113 a0001c0001t0114 others(13): Show a0001c0001t0042 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0149 a0001c0002t0024 a0001c0002t0051 a0001c0002t0055 a0001c0002t0061 a0001c0002t0123 a0001c0002t0136 a0002c0003t0014 a0002c0003t0021 a0002c0003t0037 a0002c0003t0075 a0002c0006t0117	a0001c0001t0042g0157 a0001c0001t0042g0221 a0001c0001t0113g0063 others(20): Show a0001c0001t0042g0157 a0001c0001t0042g0221 a0001c0001t0113g0063 a0001c0001t0114g0057 a0001c0001t0115g0100 a0001c0001t0149g0246 a0001c0002t0024g0007 a0001c0002t0024g0023 a0001c0002t0051g0160 a0001c0002t0051g0161 a0001c0002t0055g0215 a0001c0002t0055g0216 a0001c0002t0061g0021 a0001c0002t0123g0150 a0001c0002t0136g0163 a0002c0003t0014g0001 a0002c0003t0014g0263 a0002c0003t0021g0002 a0002c0003t0021g0011 a0002c0003t0037g0002 a0002c0003t0037g0155 a0002c0003t0075g0127 a0002c0006t0117g0314	29	366	0.0792	21	c.12 others(34): Show c.12993_*12994insTTGATAAAACAAGATAGATTT	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding		3996		chr18	TogoVar
GANAB_chr11_62619829_62651613	62646050	C C	CAGAGCTG others(14): Show CAGAGCTGGTGCTCACGTGAAG	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0075 a0004c0004t0001g0075	1	308	0.0033	21	c.38+ others(34): Show c.38+491_38+511dupCTTCACGTGAGCACCAGCTCT	GANAB	ENSG00000089597.18	transcript	ENST00000356638.8	protein_coding	1/23			chr11	TogoVar
GAPVD1_chr9_125256826_125372207	125293842	A A	AAAATATA others(14): Show AAAATATATTTTATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG04184.hp2 NA18980.hp1 others(2): Show HG02056.hp1 HG04184.hp2 NA18980.hp1 NA18988.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0013 a0001c0012t0001	a0001c0001t0001g0286 a0001c0001t0001g0310 a0001c0001t0005g0307 others(2): Show a0001c0001t0001g0286 a0001c0001t0001g0310 a0001c0001t0005g0307 a0001c0001t0013g0191 a0001c0012t0001g0282	5	340	0.0147	21	c.-14 others(40): Show c.-149-1614_-149-1594dupAATATATTTTATATATATATA	GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr9	TogoVar
GAPVD1_chr9_125256826_125372207	125300023	G G	GAAAAAAA others(14): Show GAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0340 a0001c0001t0005g0340	1	340	0.0029	21	c.185 others(36): Show c.185+933_185+934insAAAAAAAAAAAAAAAAAAAAA	GAPVD1	ENSG00000165219.23	transcript	ENST00000297933.11	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr9	TogoVar

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