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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
GABRB3_chr15_26538552_26778066	26554190	A A	ATAAAGTG others(27): Show ATAAAGTGTGTATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0063 a0001c0001t0008g0063	1	69	0.0145	34	c.108 others(53): Show c.1081-6057_1081-6056insATATATATATATATATATATATATAC ACACTTTA		GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	8/8						chr15	TogoVar
GABRG1_chr4_46030769_46129054	46117784	G G	GTATATAC others(27): Show GTATATACATATATACATATGTATACATGTGTATC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00438.hp1 others(53): Show HG00280.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00735.hp1 HG01099.hp2 HG01109.hp2 HG01167.hp2 HG01175.hp1 HG01255.hp1 HG01346.hp2 HG01496.hp2 HG01928.hp2 HG01952.hp1 HG01978.hp2 HG02015.hp1 HG02071.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02257.hp2 HG02300.hp1 HG02300.hp2 HG03139.hp2 HG03239.hp2 HG03669.hp2 HG03688.hp1 NA18939.hp1 NA18944.hp1 NA18950.hp1 NA18951.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18970.hp1 NA18971.hp2 NA18974.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18986.hp2 NA18988.hp2 NA18998.hp2 NA19002.hp2 NA19012.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp2 NA19063.hp2 NA19070.hp1 NA19084.hp1 NA19085.hp1 NA19087.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0003c0009	a0001c0001t0001 a0001c0001t0010 a0001c0001t0025 others(8): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0025 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0022 a0001c0004t0001 a0001c0004t0024 a0002c0003t0001 a0003c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0052 others(50): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0085 a0001c0001t0001g0123 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0198 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0267 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0010g0154 a0001c0001t0010g0158 a0001c0001t0025g0280 a0001c0002t0001g0059 a0001c0002t0003g0057 a0001c0002t0003g0211 a0001c0002t0005g0068 a0001c0002t0022g0084 a0001c0004t0001g0222 a0001c0004t0024g0221 a0002c0003t0001g0184 a0003c0009t0001g0291	56	171	0.3275	34	c.104 others(51): Show c.104+5992_104+6025dupGATACACATGTATACATATGTATATATG TATATA		GABRG1	ENSG00000163285.8	transcript	ENST00000295452.5	protein_coding	1/8						chr4	TogoVar
GABRG1_chr4_46030769_46129054	46117920	C C	CTATATAC others(27): Show CTATATACATATATACATATGTATACATGTGTATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG01071.hp2 others(29): Show HG00099.hp2 HG00140.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01261.hp2 HG01361.hp1 HG01952.hp2 HG01975.hp2 HG02273.hp2 HG02486.hp1 HG02602.hp1 HG02717.hp1 HG02738.hp2 HG02809.hp1 HG02976.hp1 HG03453.hp2 HG03486.hp1 HG03492.hp1 HG03710.hp1 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04228.hp1 NA18522.hp2 NA18939.hp2 NA19084.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0018	a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0119 others(27): Show a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0268 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0282 a0001c0002t0005g0066 a0001c0002t0005g0067 a0001c0002t0005g0079 a0001c0002t0005g0082 a0001c0002t0005g0130 a0001c0002t0018g0135	32	303	0.1056	34	c.104 others(51): Show c.104+5889_104+5890insTATACACATGTATACATATGTATATATG TATATA		GABRG1	ENSG00000163285.8	transcript	ENST00000295452.5	protein_coding	1/8						chr4	TogoVar
GABRG1_chr4_46030769_46129054	46117920	C C	CTATATAC others(27): Show CTATATACATATATACATATGTATACGTGTGTATA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG04184.hp2 HG03491.hp1 HG03492.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0269 a0001c0001t0001g0014 a0001c0001t0001g0269	3	274	0.0109	34	c.104 others(51): Show c.104+5889_104+5890insTATACACACGTATACATATGTATATATG TATATA		GABRG1	ENSG00000163285.8	transcript	ENST00000295452.5	protein_coding	1/8						chr4	TogoVar
GABRG1_chr4_46030769_46129054	46117937	T T	TATGTATA others(27): Show TATGTATACATGTGTATATATATACATATATACAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03540.hp2 HG02622.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0020 a0001c0002t0002 a0001c0002t0020	a0001c0002t0002g0275 a0001c0002t0020g0277 a0001c0002t0002g0275 a0001c0002t0020g0277	2	306	0.0065	34	c.104 others(51): Show c.104+5872_104+5873insGTGTATATATGTATATATATACACATGT ATACAT		GABRG1	ENSG00000163285.8	transcript	ENST00000295452.5	protein_coding	1/8						chr4	TogoVar
GABRG1_chr4_46030769_46129054	46117978	A A	ACATGTGT others(27): Show ACATGTGTATCTATATACATATATACATATGTATG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	306	0.0033	34	c.104 others(51): Show c.104+5831_104+5832insCATACATATGTATATATGTATATAGATA CACATG		GABRG1	ENSG00000163285.8	transcript	ENST00000295452.5	protein_coding	1/8						chr4	TogoVar
GABRG1_chr4_46030769_46129054	46118024	A A	ATATACAT others(27): Show ATATACATATATACATATGTATACATGTGTGTATG	intron_variant intron_variant	MODIFIER	HG01258.hp1 NA20129.hp1 HG01258.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0270 a0001c0002t0002g0069 a0001c0001t0001g0270 a0001c0002t0002g0069	2	302	0.0066	34	c.104 others(51): Show c.104+5752_104+5785dupCATACACACATGTATACATATGTATATA TGTATA		GABRG1	ENSG00000163285.8	transcript	ENST00000295452.5	protein_coding	1/8						chr4	TogoVar
GABRG1_chr4_46030769_46129054	46128321	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0028 a0001c0002t0012g0028	1	283	0.0035	34	c.-44 others(45): Show c.-4409_-4408insATATATATATATATATATATATATATATATATAT		GABRG1	ENSG00000163285.8	transcript	ENST00000295452.5	protein_coding					4268		chr4	TogoVar
GABRG3_chr15_26966181_27546984	27307578	C C	CAGGTTTA others(27): Show CAGGTTTATAGGTTTATATATTTATATATAAACAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	11	0.0909	34	c.271 others(53): Show c.271-19154_271-19121dupAGGTTTATATATTTATATATAAACAT AGGTTTAT		GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27307673	A A	ATAAACAT others(27): Show ATAAACATAGGTTTATAGGTTTATATATTTATATG	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18522.hp2 HG03139.hp1 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0010 a0001c0003t0001 a0001c0004t0010	a0001c0003t0001g0065 a0001c0004t0010g0075 a0001c0003t0001g0065 a0001c0004t0010g0075	2	91	0.0220	34	c.271 others(53): Show c.271-19121_271-19120insAGGTTTATATATTTATATGTAAACAT AGGTTTAT		GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27307728	A A	AATATATA others(27): Show AATATATAATCATAGGTTTATAGGTTTATATATTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA19030.hp1 HG02451.hp1 NA19030.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0011 a0001c0006t0013 a0001c0004t0011 a0001c0006t0013	a0001c0004t0011g0078 a0001c0006t0013g0017 a0001c0004t0011g0078 a0001c0006t0013g0017	2	87	0.0230	34	c.271 others(53): Show c.271-19060_271-19059insGGTTTATATATTTATATATAATCATA GGTTTATA		GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27308195	C C	CATATATG others(27): Show CATATATGTTTATATAGCCAAACTTATATAAACAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0023 a0001c0013t0023	a0001c0013t0023g0006 a0001c0013t0023g0006	1	80	0.0125	34	c.271 others(53): Show c.271-18612_271-18611insATATGTTTATATAGCCAAACTTATAT AAACATAT		GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27308195	C C	CATATATG others(27): Show CATATATGTTTATATAGCCAAACTTATATAAACGT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0036 a0001c0007t0036	a0001c0007t0036g0016 a0001c0007t0036g0016	1	80	0.0125	34	c.271 others(53): Show c.271-18612_271-18611insATATGTTTATATAGCCAAACTTATAT AAACGTAT		GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27313262	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATGTATATATA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0014 a0001c0001t0007g0014	1	32	0.0313	34	c.271 others(53): Show c.271-13522_271-13521insGTATATATATATATATATATATATAT ATATATAT		GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRP_chr5_170778725_170819047	170797505	A A	ATACCCCA others(27): Show ATACCCCATGGACACACAGACATGCAAGTTGCAGC	frameshift_variant frameshift_variant	HIGH	NA18954.hp2 NA18954.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0002 a0008c0011t0002	a0008c0011t0002g0111 a0008c0011t0002g0111	1	360	0.0028	34	c.500 others(41): Show c.500_533dupACCCCATGGACACACAGACATGCAAGTTGCAGCT	p.Glu others(5): Show p.Glu179fs	GABRP	ENSG00000094755.17	transcript	ENST00000265294.9	protein_coding	6/10	726/3304	534/1323	178/440		INFO_REALIGN_3_PRIME	chr5	TogoVar
GADL1_chr3_30721197_30899661	30751055	A A	ACAGGTGC others(27): Show ACAGGTGCAGCCAATTCGCATAAGCAAAAGAACAG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	1	280	0.0036	34	c.139 others(55): Show c.1393-22674_1393-22641dupCTGTTCTTTTGCTTATGCGAATTG GCTGCACCTG		GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	14/14						chr3	TogoVar
GADL1_chr3_30721197_30899661	30867439	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0259	1	218	0.0046	34	c.38- others(49): Show c.38-5675_38-5674insGTGTATATATATATATATATATATATATAT ATAT		GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	1/14						chr3	TogoVar
GADL1_chr3_30721197_30899661	30867439	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	218	0.0046	34	c.38- others(49): Show c.38-5675_38-5674insGTATATATATATATATATATATATATATAT ATAT		GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	1/14						chr3	TogoVar
GADL1_chr3_30721197_30899661	30895247	T T	TTGTGTGT others(27): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	160	0.0063	34	c.-63 others(43): Show c.-634_-633insCACACACACACACACACACACACACACACACACA		GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding					587		chr3	TogoVar
GAL3ST2_chr2_241771822_241809287	241807616	C C	CCTCAGCC others(27): Show CCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0077 a0002c0002t0002g0077	1	308	0.0032	34	c.34 others(45): Show c.3450_*3451insCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCT		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					3330		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807653	C C	CTCCCCCT others(27): Show CTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	287	0.0035	34	c.34 others(45): Show c.3487_*3488insTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCT		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					3367		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807888	T T	TCCCTCCC others(27): Show TCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG02896.hp2 HG00735.hp1 HG02896.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0005c0005t0001 a0001c0001t0001 a0005c0005t0001	a0001c0001t0001g0091 a0005c0005t0001g0007 a0001c0001t0001g0091 a0005c0005t0001g0007	2	300	0.0067	34	c.37 others(45): Show c.3722_*3723insCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCA		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					3602		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807931	T T	TCCCTCCC others(27): Show TCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	270	0.0037	34	c.37 others(45): Show c.3765_*3766insCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCA		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					3645		chr2	TogoVar
GAL3ST4_chr7_100154244_100173617	100172698	C C	CGTGTATA others(27): Show CGTGTATATATATGTATATATACACGTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	292	0.0034	34	c.-43 others(45): Show c.-4375_-4342dupATATATATACGTGTATATATACATATATATACAC		GAL3ST4	ENSG00000197093.11	transcript	ENST00000360039.9	protein_coding					4082		chr7	TogoVar
GALC_chr14_87928014_87998182	87928094	T T	TCCCCCCC others(27): Show TCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0197 a0002c0002t0006g0197	1	368	0.0027	34	c.66 others(45): Show c.6637_*6638insTAGGAGGGGGGGGGGGGGGGGGGGGGGGGGGGGG		GALC	ENSG00000054983.17	transcript	ENST00000261304.7	protein_coding					4919		chr14	TogoVar
GALC_chr14_87928014_87998182	87936896	C C	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01934.hp1 HG02257.hp1 others(1): Show HG01884.hp1 HG01934.hp1 HG02257.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0085 a0001c0001t0001g0124 a0001c0001t0001g0029 a0001c0001t0001g0085 a0001c0001t0001g0124	4	42	0.0952	34	c.191 others(53): Show c.1912-2019_1912-2018insTATATATATATATATATATATATATA TATATATA		GALC	ENSG00000054983.17	transcript	ENST00000261304.7	protein_coding	16/16						chr14	TogoVar
GALK2_chr15_49165247_49336882	49228682	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0080 a0001c0001t0015g0080	1	313	0.0032	34	c.267 others(51): Show c.267-7163_267-7162insATATATATATATATATATATATATATAC ATATAT		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(27): Show ATATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0208 a0001c0002t0026g0208	1	136	0.0074	34	c.267 others(51): Show c.267-7163_267-7162insATATATATATATATATATATATATTTTT TTTTTT		GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr15	TogoVar
GALNS_chr16_88808734_88861947	88834576	C C	CGTGGTCT others(27): Show CGTGGTCTGGGAAGAGGCTGTAGGGCCCCCCCCGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02258.hp2 others(2): Show HG01109.hp2 HG01884.hp1 HG02258.hp2 HG02451.hp2 NA21309.hp1	a0001 a0003 a0013 a0001 a0003 a0013	a0001c0002 a0003c0016 a0013c0020 a0001c0002 a0003c0016 a0013c0020	a0001c0002t0004 a0003c0016t0004 a0013c0020t0021 a0001c0002t0004 a0003c0016t0004 a0013c0020t0021	a0001c0002t0004g0012 a0001c0002t0004g0013 a0003c0016t0004g0027 others(2): Show a0001c0002t0004g0012 a0001c0002t0004g0013 a0003c0016t0004g0027 a0003c0016t0004g0028 a0013c0020t0021g0388	5	399	0.0125	34	c.898 others(49): Show c.898+603_898+636dupACGGGGGGGGCCCTACAGCCTCTTCCCAGA CCAC		GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	8/13						chr16	TogoVar
GALNS_chr16_88808734_88861947	88834643	C C	CCGCGTGG others(27): Show CCGCGTGGTCTGGGAAGAGGCTGCAGGGCCCCCCG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp1 HG00735.hp1 others(44): Show HG00609.hp2 HG00621.hp1 HG00735.hp1 HG01069.hp1 HG01074.hp1 HG01106.hp2 HG01243.hp2 HG01257.hp1 HG01358.hp1 HG01516.hp1 HG01891.hp1 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp2 HG02071.hp2 HG02129.hp2 HG02155.hp1 HG02523.hp2 HG02896.hp1 HG03017.hp1 HG03490.hp1 HG03540.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18942.hp2 NA18969.hp2 NA18970.hp1 NA18973.hp2 NA18979.hp1 NA19003.hp1 NA19004.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19065.hp1 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19085.hp2 NA19087.hp1 NA19089.hp1 NA19091.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0010 others(1): Show a0001 a0002 a0010 a0014	a0001c0002 a0001c0004 a0001c0024 others(3): Show a0001c0002 a0001c0004 a0001c0024 a0002c0026 a0010c0028 a0014c0027	a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 others(5): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0009 a0001c0024t0002 a0002c0026t0001 a0010c0028t0002 a0014c0027t0002	a0001c0002t0001g0106 a0001c0002t0001g0199 a0001c0002t0002g0011 others(44): Show a0001c0002t0001g0106 a0001c0002t0001g0199 a0001c0002t0002g0011 a0001c0002t0002g0017 a0001c0002t0002g0036 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0050 a0001c0002t0002g0053 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0084 a0001c0002t0002g0086 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0119 a0001c0002t0002g0121 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0133 a0001c0002t0002g0136 a0001c0002t0002g0139 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0150 a0001c0002t0002g0158 a0001c0002t0002g0209 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0248 a0001c0002t0002g0291 a0001c0002t0002g0294 a0001c0002t0002g0352 a0001c0002t0002g0366 a0001c0002t0002g0374 a0001c0004t0001g0043 a0001c0004t0001g0044 a0001c0004t0009g0166 a0001c0024t0002g0364 a0002c0026t0001g0039 a0010c0028t0002g0096 a0014c0027t0002g0120	47	302	0.1556	34	c.898 others(49): Show c.898+569_898+570insCGGGGGGCCCTGCAGCCTCTTCCCAGACCA CGCG		GALNS	ENSG00000141012.13	transcript	ENST00000268695.10	protein_coding	8/13						chr16	TogoVar
GALNT10_chr5_154185733_154425984	154293594	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0232 a0001c0002t0001g0232	1	227	0.0044	34	c.160 others(51): Show c.160-1202_160-1201insATATATATATATATATATATATATATAT ATATAT		GALNT10	ENSG00000164574.16	transcript	ENST00000297107.11	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
GALNT13_chr2_153866922_154458979	154014635	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	36	0.0278	34	c.142 others(53): Show c.142+70011_142+70012insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT		GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154269906	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01943.hp1 HG02273.hp2 others(2): Show HG01346.hp1 HG01943.hp1 HG02273.hp2 HG03225.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0075	a0001c0001t0001g0010 a0001c0001t0003g0019 a0001c0001t0003g0022 others(2): Show a0001c0001t0001g0010 a0001c0001t0003g0019 a0001c0001t0003g0022 a0001c0001t0012g0182 a0001c0001t0075g0087	5	20	0.2500	34	c.975 others(53): Show c.975+10787_975+10788insATATATATATATATATATATATATAT ATATATAT		GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154269906	G G	GTGTATAT others(27): Show GTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01074.hp1 HG01346.hp2 others(1): Show HG00099.hp1 HG01074.hp1 HG01346.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0019 a0001c0001t0005 a0001c0001t0008 a0001c0001t0019	a0001c0001t0005g0116 a0001c0001t0008g0042 a0001c0001t0008g0056 others(1): Show a0001c0001t0005g0116 a0001c0001t0008g0042 a0001c0001t0008g0056 a0001c0001t0019g0078	4	19	0.2105	34	c.975 others(53): Show c.975+10769_975+10770insGTATATATATATATATATATATATAT ATATATAT		GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT15_chr3_16169680_16235165	16233094	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	105	0.0095	34	c.55 others(45): Show c.5594_*5595insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		GALNT15	ENSG00000131386.20	transcript	ENST00000339732.10	protein_coding					2930		chr3	TogoVar
GALNT17_chr7_71127144_71718599	71201239	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0075 a0001c0001t0013g0075	1	53	0.0189	34	c.238 others(53): Show c.238+68200_238+68201insATATATATATATATATATATATATAT ATATATAT		GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71245848	G G	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0055 a0001c0001t0007g0055	1	67	0.0149	34	c.239 others(53): Show c.239-89686_239-89685insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT		GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71265118	A A	ATATATAT others(27): Show ATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0013 a0001c0004t0003g0013	1	25	0.0400	34	c.239 others(53): Show c.239-70431_239-70430insATATATATATATATATATATATTTTT TTTTTTTT		GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71319124	T T	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	76	0.0132	34	c.239 others(53): Show c.239-16425_239-16424insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCT		GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71693305	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0057 a0001c0001t0006g0057	1	26	0.0385	34	c.150 others(55): Show c.1500+16000_1500+16001insTATATATATATATATATATATATA TATATATATA		GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71701784	T T	TGTATATA others(27): Show TGTATATATATATATATATACACATATATATATAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0073 a0001c0001t0013g0073	1	75	0.0133	34	c.150 others(53): Show c.1501-8977_1501-8976insGTATATATATATATATATACACATAT ATATATAC		GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10						chr7	TogoVar
GALNT5_chr2_157252705_157323491	157256569	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0022 a0002c0003t0022	a0002c0003t0022g0189 a0002c0003t0022g0189	1	173	0.0058	34	c.-15 others(45): Show c.-1514_-1513insAAAAAAAAAAAAAAAAATATATATATATATATAT		GALNT5	ENSG00000136542.9	transcript	ENST00000259056.5	protein_coding					1135		chr2	TogoVar
GALNT5_chr2_157252705_157323491	157290112	T T	TATATATA others(27): Show TATATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03209.hp2 HG03579.hp2 HG02723.hp1 HG03209.hp2 HG03579.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0005 a0004c0006t0013 a0004c0006t0014 a0004c0006t0005 a0004c0006t0013 a0004c0006t0014	a0004c0006t0005g0179 a0004c0006t0013g0180 a0004c0006t0014g0184 a0004c0006t0005g0179 a0004c0006t0013g0180 a0004c0006t0014g0184	3	17	0.1765	34	c.174 others(53): Show c.1741+3979_1741+3980insTATATATATATATATATATATATATA CACACACA		GALNT5	ENSG00000136542.9	transcript	ENST00000259056.5	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT7_chr4_173163811_173328967	173216706	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0238 a0001c0002t0001g0238	1	227	0.0044	34	c.127 others(53): Show c.127-31252_127-31251insATATATATATATATATATATATATAT ATATATAT		GALNT7	ENSG00000109586.12	transcript	ENST00000265000.9	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNT9_chr12_132191372_132334589	132295879	G G	GAACAGGG others(27): Show GAACAGGGACGGCCTCCGGAACAGGGAGAGCCTCC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0146 a0001c0014t0003g0146	1	182	0.0055	34	c.239 others(51): Show c.239-9450_239-9449insGGAGGCTCTCCCTGTTCCGGAGGCCGTC CCTGTT		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132295983	A A	AAACAGGG others(27): Show AAACAGGGACGGCCTCCGGACAGGGACGGCCTCCG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	164	0.0061	34	c.239 others(51): Show c.239-9554_239-9553insCGGAGGCCGTCCCTGTCCGGAGGCCGTC CCTGTT		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10						chr12	TogoVar
GALNTL6_chr4_171808404_173046559	172528952	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA20752.hp1 NA18522.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0034 a0001c0001t0004g0013 a0001c0001t0001g0034 a0001c0001t0004g0013	2	9	0.2222	34	c.553 others(55): Show c.553+180275_553+180276insATATATATATATATATATATATAT ATATATATAT		GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172528963	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0016	1	37	0.0270	34	c.553 others(55): Show c.553+180275_553+180276insATATATATATATATATATATATAT ATATATATGT		GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172745446	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	19	0.0526	34	c.554 others(53): Show c.554-63914_554-63913insTATATATATATATATATATATATATA TACACACA		GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
GALR1_chr18_77244848_77282900	77279129	A A	AAAACATG others(27): Show AAAACATGGTGAAACCCTGTCTCTACTAAAAATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0069 a0001c0001t0043g0069	1	364	0.0027	34	c.10 others(47): Show c.10227_*10228insAAACATGGTGAAACCCTGTCTCTACTAAAAAT AG		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding					1230		chr18	TogoVar

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