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
ZNF511_chr10_133303914_133318161	133317814	CCCCCCCC others(125): Show CCCCCCCCCAGACACAGAGATGGAAAGACCACACCTCCCCCCCAGACACA GAGATGGAAAGACCACACCCCCCCCCCAGACACAGAGATGGAAAGACCAC ACCCCCCCCAGACACAGAGATGGAAAGACCACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG01167.hp1 HG02683.hp2 others(2): Show HG00408.hp2 HG01167.hp1 HG02683.hp2 HG03471.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0001 a0001c0001t0001g0019	5	282	0.0177	-132	c.49 others(11): Show c.4949_*5080del		ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding					4654		chr10	TogoVar
ZNF511_chr10_133303914_133318161	133317850	CCCCCCCA others(125): Show CCCCCCCAGACACAGAGATGGAAAGACCACACCCCCCCCCCAGACACAGA GATGGAAAGACCACACCCCCCCCAGACACAGAGATGGAAAGACCACACCC CCCCCCAGACACAGAGATGGAAAGACCACACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	282	0.0036	-132	c.49 others(11): Show c.4985_*5116del		ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding					4690		chr10	TogoVar
ZNF511_chr10_133303914_133318161	133317881	CCCCCCCC others(125): Show CCCCCCCCCCAGACACAGAGATGGAAAGACCACACCCCCCCCAGACACAG AGATGGAAAGACCACACCCCCCCCCAGACACAGAGATGGAAAGACCACAC CTCCCCCCCAGACACAGAGATGGAAAGACCACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG03098.hp2 HG01981.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0001t0001g0001 a0001c0002t0001g0002	2	282	0.0071	-132	c.50 others(11): Show c.5016_*5147del		ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding					4721		chr10	TogoVar
ZNF511_chr10_133303914_133318161	133317949	CCCCCCCA others(125): Show CCCCCCCAGACACAGAGATGGAAAGACCACACCTCCCCCCCAGACACAGA GATGGAAAGACCACACCCCCCCCCCCAGACACAGAGATGGAAAGACCACA CCCCCCCCCAGACACAGAGATGGAAAGACCACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	282	0.0036	-132	c.50 others(11): Show c.5084_*5215del		ZNF511	ENSG00000198546.15	transcript	ENST00000361518.10	protein_coding					4789		chr10	TogoVar
ZNF609_chr15_64455578_64691068	64577328	AATATATA others(125): Show AATATATACATATATATGTATATATATACACATATATGTATATATATACA CATATAAATATATACACATATATGTATATATATACACATATAAATATATA CACATATATGTATATATATACACATATAAATAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp1 HG01192.hp2 others(20): Show HG00642.hp2 HG00733.hp1 HG01192.hp2 HG01257.hp2 HG01515.hp2 HG01884.hp2 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG02155.hp2 HG02257.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 NA18522.hp1 NA18906.hp2 NA19056.hp2 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 a0001c0001 a0001c0003 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0020 a0001c0001t0022 a0001c0003t0001 a0001c0003t0021 a0001c0008t0001	a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0001g0041 others(20): Show a0001c0001t0001g0026 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0062 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0002g0027 a0001c0001t0005g0022 a0001c0001t0005g0158 a0001c0001t0020g0045 a0001c0001t0022g0150 a0001c0003t0001g0029 a0001c0003t0001g0146 a0001c0003t0001g0167 a0001c0003t0021g0061 a0001c0008t0001g0021 a0001c0008t0001g0159	23	176	0.1307	-132	c.748 others(19): Show c.748-45495_748-45364del		ZNF609	ENSG00000180357.10	transcript	ENST00000326648.5	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr15	TogoVar
ZNF750_chr17_82824434_82845022	82843367	GTCCAGCT others(125): Show GTCCAGCTTACTTATCATTCCCTTCCCCTCCCCGTCCAGCTTATATACCC TTCCTTTCCCCTCCCCATCCAGCTTACATACCCTTCCCTTCCCCTCCCCG TCCAGCTTACTTACCCTTCCCTTCCCCTCACCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02965.hp2 HG02258.hp2 HG02965.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0033 a0001c0010t0001g0033	2	426	0.0047	-132	c.-37 others(11): Show c.-3755_-3624del		ZNF750	ENSG00000141579.7	transcript	ENST00000269394.4	protein_coding					3346		chr17	TogoVar
ZNF787_chr19_56082366_56126295	56103938	GCCGCCGA others(125): Show GCCGCCGACCCGTGCCACGCACCGGGAGGGTCCCTACGCACGACACCGCC GACCCGTGCCACGCACCGGGAGGGTCCCTACGCACGACACCGCCGACCCG TGCCACGCACCGGGAGGGTCCCTACGCACGACA	G G	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20905.hp2 NA20752.hp1 NA20905.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0012 a0002c0003t0032 a0002c0003t0012 a0002c0003t0032	a0002c0003t0012g0099 a0002c0003t0032g0098 a0002c0003t0012g0099 a0002c0003t0032g0098	2	410	0.0049	-132	c.-10 others(15): Show c.-10-843_-10-712del		ZNF787	ENSG00000142409.6	transcript	ENST00000610935.2	protein_coding	1/2						chr19	TogoVar
ZNF787_chr19_56082366_56126295	56104067	GACACCGC others(125): Show GACACCGCCGACCCGTGCCACGCACCGGGAGGGTCCCTACGCACGACACC GCCGACCCGTGCCACGCACCGGGAGGGTCCCTACGCACGCCGCCGACCCG TGCCACGCACCGGGAGGGTCCCTACGCACGACA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG02572.hp1 others(3): Show HG01884.hp2 HG02109.hp2 HG02572.hp1 HG02896.hp2 HG02922.hp1 HG03130.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0004c0005 a0002c0003 a0004c0005	a0002c0003t0016 a0002c0003t0063 a0004c0005t0033 others(1): Show a0002c0003t0016 a0002c0003t0063 a0004c0005t0033 a0004c0005t0068	a0002c0003t0016g0084 a0002c0003t0016g0289 a0002c0003t0016g0290 others(3): Show a0002c0003t0016g0084 a0002c0003t0016g0289 a0002c0003t0016g0290 a0002c0003t0063g0286 a0004c0005t0033g0287 a0004c0005t0068g0288	6	410	0.0146	-132	c.-10 others(15): Show c.-10-972_-10-841del		ZNF787	ENSG00000142409.6	transcript	ENST00000610935.2	protein_coding	1/2						chr19	TogoVar
ABCB10_chr1_229511582_229563707	229523471	GTGGTGCT others(124): Show GTGGTGCTGCTAAATGCTGCTCTAAACAGGAAACCAGTGCACACAAGGAG GGCAGTGAGGAAAACCCTCTCCTGAGCCTCTGATTGGTGAGGCTGTCTGA GTGCCCTGAGGTAGGTCCTTAGAGCAGCCTGC	G G	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0270 a0003c0004t0001g0270	1	284	0.0035	-131	c.190 others(19): Show c.1907-1967_1907-1837del		ABCB10	ENSG00000135776.5	transcript	ENST00000344517.5	protein_coding	10/12						chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288992	CTCCGTCC others(124): Show CTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGT CCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0006 a0007c0018t0006	a0007c0018t0006g0078 a0007c0018t0006g0078	1	295	0.0034	-131	c.44 others(11): Show c.4441_*4571del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3398		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289408	CTCCGTCC others(124): Show CTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTG TCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0006 a0007c0018t0006	a0007c0018t0006g0078 a0007c0018t0006g0078	1	295	0.0034	-131	c.40 others(11): Show c.4025_*4155del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					2982		chr1	TogoVar
ANKLE2_chr12_132720503_132766832	132758936	TGGATCAC others(124): Show TGGATCACGCAGTGTGGCACCCCGGGGCACCCACGTGGCAGAGAGGATCG CTGCGGAGTGGCACCCCGGGGCACCCACGTGGCAGAGTGGATCGCTGCGG AGTGGCACCCCGGGGCACCCACGTGGCAGAGA	T T	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	350	0.0029	-131	c.181 others(17): Show c.181+2551_181+2681del		ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12						chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132758990	GGAGTGGC others(124): Show GGAGTGGCACCCCGGGGCACCCACGTGGCAGAGTGGATCGCTGCGGAGTG GCACCCCGGGGCACCCACGTGGCAGAGAGGATCGCTGCGGAGTGGCACCC CGGGGCACCCACGTGGCAGAGTGGATCACGCA	G G	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	350	0.0029	-131	c.181 others(17): Show c.181+2497_181+2627del		ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12						chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132759023	TGGATCGC others(124): Show TGGATCGCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCAGAGAGGATC GCTGCGGAGTGGCACCCCGGGGCACCCACGTGGCAGAGTGGATCACGCAG AGTGGCACCCCGGGGCACCCACGTGGCAGAGA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01255.hp2 HG01943.hp2 others(2): Show HG00423.hp1 HG01255.hp2 HG01943.hp2 HG01993.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0216 a0001c0001t0001g0217 others(2): Show a0001c0001t0001g0032 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0229	5	350	0.0143	-131	c.181 others(17): Show c.181+2464_181+2594del		ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12						chr12	TogoVar
ARHGAP21_chr10_24578614_24728887	24656944	GGGGGTCA others(124): Show GGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGAAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGT	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01981.hp1 NA18995.hp2 others(3): Show HG01123.hp1 HG01981.hp1 NA18995.hp2 NA19004.hp1 NA19009.hp1 NA19011.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0003 a0008c0009 a0001c0001 a0003c0003 a0008c0009	a0001c0001t0005 a0003c0003t0001 a0008c0009t0005 a0001c0001t0005 a0003c0003t0001 a0008c0009t0005	a0001c0001t0005g0005 a0001c0001t0005g0006 a0003c0003t0001g0202 others(3): Show a0001c0001t0005g0005 a0001c0001t0005g0006 a0003c0003t0001g0202 a0008c0009t0005g0002 a0008c0009t0005g0003 a0008c0009t0005g0004	6	352	0.0171	-131	c.268 others(18): Show c.268+9910_268+10040del		ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	4/25						chr10	TogoVar
ARHGAP21_chr10_24578614_24728887	24657265	GCCGGCCA others(124): Show GCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCC TCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC	G G	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0211 a0003c0003t0001g0211	1	352	0.0028	-131	c.268 others(17): Show c.268+9589_268+9719del		ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	4/25						chr10	TogoVar
ARHGAP8_chr22_44747575_44867784	44800595	CGCCCCTC others(124): Show CGCCCCTCCCCGCAGCTGTCCATGTGTGGGGGGCGCCCCTCCCCGCAGCT GTCCATGTGTGGGGGGCGCCCCTCCCCGCAGCTGTCCATGTGTGGGGGGC GCCCCTCCCCGCAGCTGTCCGTGTGAGGGGGT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02970.hp1 HG03139.hp2 others(2): Show HG02896.hp2 HG02970.hp1 HG03139.hp2 HG03209.hp1 NA18522.hp1	a0002 a0008 a0022 others(1): Show a0002 a0008 a0022 a0025	a0002c0011 a0008c0027 a0008c0074 others(2): Show a0002c0011 a0008c0027 a0008c0074 a0022c0061 a0025c0073	a0002c0011t0005 a0008c0027t0001 a0008c0074t0001 others(2): Show a0002c0011t0005 a0008c0027t0001 a0008c0074t0001 a0022c0061t0002 a0025c0073t0001	a0002c0011t0005g0061 a0008c0027t0001g0346 a0008c0074t0001g0049 others(2): Show a0002c0011t0005g0061 a0008c0027t0001g0346 a0008c0074t0001g0049 a0022c0061t0002g0015 a0025c0073t0001g0104	5	390	0.0128	-131	c.80- others(15): Show c.80-1478_80-1348del		ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
ATP11A_chr13_112685038_112892168	112804113	TCCTCCTT others(124): Show TCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCTCCT TCACCTCCCTCCCTGCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTCCCT CCTTCACCTCCCTCCCCCCATCCCCTCTCTGC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG00621.hp1 others(4): Show HG00597.hp2 HG00609.hp1 HG00621.hp1 HG02572.hp1 NA18974.hp2 NA19063.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0001c0011	a0001c0001t0001 a0001c0002t0001 a0001c0002t0013 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0013 a0001c0006t0001 a0001c0011t0046 a0001c0011t0065	a0001c0001t0001g0029 a0001c0002t0001g0102 a0001c0002t0013g0117 others(4): Show a0001c0001t0001g0029 a0001c0002t0001g0102 a0001c0002t0013g0117 a0001c0006t0001g0145 a0001c0006t0001g0182 a0001c0011t0046g0011 a0001c0011t0065g0130	7	254	0.0276	-131	c.163 others(15): Show c.163-835_163-705del		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
BICD1_chr12_32101847_32388633	32254119	CTGCCATA others(124): Show CTGCCATATTCACTGCCGTATCCCACCTGCCATAATCACTGCCCATATCC CACCTGCCGTATTCACTGCCGAATCCCACCTGCCATAATCACTGCCATAT TCCACATGTCATATTCACTGCCATATCCCACT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01358.hp2 HG02015.hp1 others(24): Show HG00323.hp2 HG01358.hp2 HG02015.hp1 HG02040.hp2 HG02080.hp2 HG02602.hp2 HG02683.hp2 HG03688.hp2 HG04184.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp2 NA18968.hp1 NA18969.hp1 NA18975.hp2 NA18981.hp1 NA18983.hp1 NA18988.hp2 NA18989.hp2 NA18994.hp1 NA18998.hp2 NA18999.hp2 NA19011.hp2 NA19064.hp2 NA19083.hp1 NA19090.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 others(9): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0021 a0001c0002t0025 a0001c0002t0026 a0001c0002t0027	a0001c0001t0003g0246 a0001c0001t0007g0146 a0001c0001t0011g0269 others(24): Show a0001c0001t0003g0246 a0001c0001t0007g0146 a0001c0001t0011g0269 a0001c0002t0001g0178 a0001c0002t0002g0063 a0001c0002t0002g0073 a0001c0002t0002g0075 a0001c0002t0002g0195 a0001c0002t0002g0207 a0001c0002t0002g0212 a0001c0002t0002g0215 a0001c0002t0002g0241 a0001c0002t0002g0253 a0001c0002t0002g0282 a0001c0002t0003g0238 a0001c0002t0005g0110 a0001c0002t0005g0111 a0001c0002t0005g0141 a0001c0002t0005g0248 a0001c0002t0008g0115 a0001c0002t0008g0145 a0001c0002t0021g0169 a0001c0002t0021g0249 a0001c0002t0025g0065 a0001c0002t0025g0078 a0001c0002t0026g0013 a0001c0002t0027g0120	27	290	0.0931	-131	c.426 others(19): Show c.426+37708_426+37838del		BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr12	TogoVar
BRD4_chr19_15230519_15337539	15309075	ACCTGTAA others(124): Show ACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGAGCAGATCACAAGGTC AGATCAAGACCATCCTGGCTAACACGGCGAAACCCCATCTCTACTAAAAA TACAAAAAATTAGCCAGGCGTGGTGGTGGGCG	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0029 a0001c0004t0029	a0001c0004t0029g0003 a0001c0004t0029g0003	1	208	0.0048	-131	c.-35 others(19): Show c.-35+23084_-35+23214del		BRD4	ENSG00000141867.19	transcript	ENST00000679869.1	protein_coding	1/19						chr19	TogoVar
C13orf42_chr13_51077119_51116274	51078005	TCCGGGAG others(124): Show TCCGGGAGGGAGGTGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCATCCG GGAGGGAGGTGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCACCTCTGCCCGGCCGCCCCTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 NA18522.hp2 NA20300.hp2 HG02145.hp1 NA18522.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0130 a0001c0001t0001g0046 a0001c0001t0001g0130	3	452	0.0066	-131	c.60 others(11): Show c.6015_*6145del		C13orf42	ENSG00000226792.8	transcript	ENST00000563710.7	protein_coding					4113		chr13	TogoVar
C1QTNF12_chr1_1237453_1251722	1248917	GGGCCTCC others(124): Show GGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGC TGGAGCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACG GGCAGCCCTGGGAGGCTGGAGCGAGGGAGGCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0101 a0002c0002t0001g0101	1	328	0.0031	-131	c.-23 others(11): Show c.-2358_-2228del		C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding					2196		chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1249080	ACGGGCAG others(124): Show ACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCG CCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGC TGGGCCTCCCACTCCGCCCTACAGGCCGGGAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	328	0.0031	-131	c.-25 others(11): Show c.-2521_-2391del		C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding					2359		chr1	TogoVar
C1QTNF5_chr11_119333942_119345883	119340275	ATGGTGGC others(124): Show ATGGTGGCCCGGCGTGCCTGGAAGGCCGGGGTGCCCCGGGCAGAGGCTGG GGATCTTGTTGTCGTCCAGTGGGGGCGAGCCGGCCGCCAGGCCCAGGAGC AGCAGGACGAGGAGTGGCCTCATAGCGCTGGC	A A	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	NA18967.hp2 NA18967.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0007 a0004c0004t0007	a0004c0004t0007g0013 a0004c0004t0007g0013	1	388	0.0026	-131	c.-9_ others(6): Show c.-9_122del	p.Met others(3): Show p.Met1fs	C1QTNF5	ENSG00000223953.6	transcript	ENST00000528368.3	protein_coding	2/3	354/1353	1/732	1/243			chr11	TogoVar
C7orf50_chr7_992006_1143247	1038687	CCCTGTCC others(124): Show CCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGC CCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02965.hp1 HG01167.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0005 a0001c0001t0008	a0001c0001t0005g0247 a0001c0001t0008g0157 a0001c0001t0005g0247 a0001c0001t0008g0157	2	326	0.0061	-131	c.130 others(19): Show c.130-28675_130-28545del		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4						chr7	TogoVar
CDH12_chr5_21745673_22858344	21833130	TTATAAAT others(124): Show TTATAAATATATATTATATAACATATAATATATATTATATTATAAATATA TATTATATAACATATAATATATATATTATAATATATATTATATGTTATAT AACATATAATATATATTATATATTATATAACA	T T	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0006 a0005c0009t0001g0006	1	60	0.0167	-131	c.814 others(17): Show c.814+8900_814+9030del		CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	8/14						chr5	TogoVar
CDH12_chr5_21745673_22858344	21833136	ATATATAT others(124): Show ATATATATTATATAACATATAATATATATTATATTATAAATATATATTAT ATAACATATAATATATATATTATAATATATATTATATGTTATATAACATA TAATATATATTATATATTATATAACATATAAT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03471.hp2 HG02886.hp2 HG03471.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0005 a0002c0003t0001 a0002c0003t0005	a0002c0003t0001g0053 a0002c0003t0005g0017 a0002c0003t0001g0053 a0002c0003t0005g0017	2	60	0.0333	-131	c.814 others(17): Show c.814+8894_814+9024del		CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	8/14						chr5	TogoVar
CDK12_chr17_39456486_39539544	39499079	CTTTCTTT others(124): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02083.hp2 NA18961.hp1 others(1): Show HG00423.hp1 HG02083.hp2 NA18961.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007	a0001c0001t0003g0057 a0001c0001t0003g0063 a0001c0001t0005g0032 others(1): Show a0001c0001t0003g0057 a0001c0001t0003g0063 a0001c0001t0005g0032 a0001c0001t0007g0046	4	260	0.0154	-131	c.242 others(19): Show c.2420-2167_2420-2037del		CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
CELSR3_chr3_48631463_48667886	48647407	AGGGAGAT others(124): Show AGGGAGATGTGGGAGGGAGGGTGGAGGGGAGATGTGGGAGGGTGGAGGGT GGAGGGGAGATGTGGGAGGGTGGAGGGTGGAGGGGAGATGTGGGAGGGAG GGTGGAGGGGAGATGTGGGAGGGAGGGTGGAG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02970.hp1 HG02647.hp1 HG02970.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0037 a0001c0001 a0003c0037	a0001c0001t0001 a0003c0037t0001 a0001c0001t0001 a0003c0037t0001	a0001c0001t0001g0048 a0003c0037t0001g0097 a0001c0001t0001g0048 a0003c0037t0001g0097	2	206	0.0097	-131	c.712 others(17): Show c.7129+303_7129+433del		CELSR3	ENSG00000008300.17	transcript	ENST00000164024.5	protein_coding	20/34						chr3	TogoVar
CEL_chr9_133056981_133076861	133071505	CCCCCGTG others(124): Show CCCCCGTGCCGCCCACGGGTGACGCCGGGCCCCCCCCCGTGCCGCCCACG GGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCC CCCCGTGACCCCCACGGGTGACTCCGAGACCG	C C	frameshift_variant frameshift_variant	HIGH	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0073 a0001c0073	a0001c0073t0001 a0001c0073t0001	a0001c0073t0001g0001 a0001c0073t0001g0001	1	416	0.0024	-131	c.200 others(9): Show c.2008_2138del	p.Val others(5): Show p.Val670fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2030/2381	2008/2262	670/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CLCC1_chr1_108924505_108968484	108930496	TCCTGTAA others(124): Show TCCTGTAATCCCAGCACATTGGGAGGCTGAGGCAGGAGGATCGCTTGAGG CTAGGAGTTCAAGACCAACCTGGGCAACATAGACCCCCGTGTCTATGAAA AATAAATCAGCAGCCAGGCGCAGTGGCTCACA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0032 a0002c0003t0032	a0002c0003t0032g0167 a0002c0003t0032g0167	1	394	0.0025	-131	c.19 others(11): Show c.1920_*2050del		CLCC1	ENSG00000121940.17	transcript	ENST00000369969.7	protein_coding	13/13				4043		chr1	TogoVar
CLN8_chr8_1758789_1791570	1763513	GCCGCGCC others(124): Show GCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCC CGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCC CCGCGCCGCGCCCCGCCCCCCGCCGCGCCCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00423.hp2 HG00558.hp2 others(23): Show HG00140.hp1 HG00423.hp2 HG00558.hp2 HG01891.hp1 HG02015.hp1 HG02040.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02165.hp2 HG02965.hp2 HG03098.hp1 HG03579.hp2 HG03704.hp2 NA18947.hp2 NA18952.hp2 NA18960.hp1 NA18962.hp2 NA18975.hp1 NA19010.hp2 NA19057.hp1 NA19085.hp1 NA19090.hp1 NA19090.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0028 a0001c0001t0039 a0001c0001t0059 a0001c0001t0076 a0001c0001t0078	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(20): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0091 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0003g0041 a0001c0001t0004g0004 a0001c0001t0004g0128 a0001c0001t0007g0098 a0001c0001t0010g0077 a0001c0001t0015g0004 a0001c0001t0016g0111 a0001c0001t0028g0002 a0001c0001t0039g0101 a0001c0001t0059g0003 a0001c0001t0076g0040 a0001c0001t0078g0110	26	413	0.0630	-131	c.-49 others(9): Show c.-495_-365del		CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding					275		chr8	TogoVar
CNTRL_chr9_121069955_121182610	121092611	ATATATAT others(124): Show ATATATATTATATATATCTATATATATAATATATATCTATATATAATATA TATCTATATATATAATATATATCTATATATATAATATATATCTATATATA TAATATATATCTATATATATATAATATATATC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00738.hp2 others(10): Show HG00099.hp2 HG00323.hp2 HG00738.hp2 HG01175.hp2 HG01884.hp2 HG01981.hp2 HG02027.hp1 HG02293.hp1 HG03017.hp2 HG03540.hp2 NA18955.hp2 NA19062.hp2 NA20905.hp1	a0003 a0012 a0017 a0003 a0012 a0017	a0003c0004 a0003c0019 a0012c0017 others(1): Show a0003c0004 a0003c0019 a0012c0017 a0017c0016	a0003c0004t0002 a0003c0019t0002 a0012c0017t0002 others(1): Show a0003c0004t0002 a0003c0019t0002 a0012c0017t0002 a0017c0016t0002	a0003c0004t0002g0009 a0003c0004t0002g0124 a0003c0004t0002g0125 others(9): Show a0003c0004t0002g0009 a0003c0004t0002g0124 a0003c0004t0002g0125 a0003c0004t0002g0128 a0003c0004t0002g0129 a0003c0004t0002g0130 a0003c0004t0002g0132 a0003c0004t0002g0133 a0003c0004t0002g0134 a0003c0019t0002g0127 a0012c0017t0002g0126 a0017c0016t0002g0021	13	330	0.0394	-131	c.348 others(17): Show c.348+2214_349-2139del		CNTRL	ENSG00000119397.19	transcript	ENST00000373855.7	protein_coding	4/43					INFO_REALIGN_3_PRIME	chr9	TogoVar
CNTRL_chr9_121069955_121182610	121092619	TATATATA others(124): Show TATATATATCTATATATATAATATATATCTATATATAATATATATCTATA TATATAATATATATCTATATATATAATATATATCTATATATATAATATAT ATCTATATATATATAATATATATCTATATATA	T T	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA19004.hp1 NA18986.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	2	330	0.0061	-131	c.348 others(17): Show c.348+2233_349-2120del		CNTRL	ENSG00000119397.19	transcript	ENST00000373855.7	protein_coding	4/43					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL18A1_chr21_45400165_45518720	45501937	AGAAGGAC others(124): Show AGAAGGACCCTCAGGGGCCTCCGCAGCCGGTCACCTCCCTCTGCAGAAGG ACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCA GGGGCCTCCGCAGCCGGTCACCTCCCTCTGCC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00597.hp2 others(29): Show HG00280.hp1 HG00438.hp1 HG00597.hp2 HG00735.hp2 HG01106.hp2 HG01123.hp1 HG01243.hp1 HG01943.hp1 HG01993.hp2 HG02055.hp2 HG02129.hp2 HG02155.hp2 HG02258.hp1 HG02602.hp2 HG02723.hp2 HG02818.hp1 HG02970.hp2 HG03209.hp1 HG03239.hp2 HG03579.hp2 HG03942.hp2 HG04204.hp2 NA18612.hp2 NA18952.hp1 NA18954.hp1 NA18961.hp2 NA18977.hp2 NA18990.hp2 NA19064.hp2 NA19070.hp1 NA19074.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0003 a0001c0004 a0001c0005 others(13): Show a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0017 a0001c0025 a0001c0026 a0001c0027 a0001c0028 a0001c0032 a0001c0033 a0001c0037 a0001c0054 a0001c0082 a0006c0060 a0008c0016	a0001c0003t0001 a0001c0003t0008 a0001c0004t0001 others(14): Show a0001c0003t0001 a0001c0003t0008 a0001c0004t0001 a0001c0005t0002 a0001c0007t0002 a0001c0017t0003 a0001c0025t0002 a0001c0026t0003 a0001c0027t0001 a0001c0028t0003 a0001c0032t0001 a0001c0033t0002 a0001c0037t0001 a0001c0054t0002 a0001c0082t0008 a0006c0060t0001 a0008c0016t0001	a0001c0003t0001g0005 a0001c0003t0001g0043 a0001c0003t0001g0048 others(29): Show a0001c0003t0001g0005 a0001c0003t0001g0043 a0001c0003t0001g0048 a0001c0003t0001g0086 a0001c0003t0001g0101 a0001c0003t0001g0145 a0001c0003t0001g0153 a0001c0003t0001g0182 a0001c0003t0001g0249 a0001c0003t0001g0261 a0001c0003t0008g0166 a0001c0004t0001g0071 a0001c0005t0002g0217 a0001c0007t0002g0078 a0001c0007t0002g0161 a0001c0007t0002g0220 a0001c0017t0003g0205 a0001c0025t0002g0159 a0001c0025t0002g0164 a0001c0026t0003g0219 a0001c0027t0001g0019 a0001c0027t0001g0020 a0001c0028t0003g0230 a0001c0032t0001g0147 a0001c0032t0001g0162 a0001c0033t0002g0100 a0001c0033t0002g0169 a0001c0037t0001g0062 a0001c0054t0002g0201 a0001c0082t0008g0053 a0006c0060t0001g0063 a0008c0016t0001g0209	32	292	0.1096	-131	c.268 others(19): Show c.2684-2064_2684-1934del		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL4A2_chr13_110302284_110518209	110355724	CACTAGCT others(124): Show CACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGT GTGGGGGTGGAGGGCTGTACAGCTCACCTGTGTGAGTGGGGAGGGCTGCA CTAGCTCACCTGTGTGTGGGGGGGAGGGCTGT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02976.hp1 HG03098.hp2 others(2): Show HG02559.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03516.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0077 a0002c0013 others(1): Show a0001c0001 a0001c0077 a0002c0013 a0003c0007	a0001c0001t0010 a0001c0077t0005 a0002c0013t0005 others(1): Show a0001c0001t0010 a0001c0077t0005 a0002c0013t0005 a0003c0007t0002	a0001c0001t0010g0033 a0001c0001t0010g0035 a0001c0077t0005g0236 others(2): Show a0001c0001t0010g0033 a0001c0001t0010g0035 a0001c0077t0005g0236 a0002c0013t0005g0036 a0003c0007t0002g0263	5	372	0.0134	-131	c.100 others(17): Show c.100-1730_100-1600del		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
CUL4A_chr13_113204613_113272108	113215669	TCTGTGTG others(124): Show TCTGTGTGACTATGGAGGTCGCGTCCCATGTGGCTGTGGAGGTCGCTGTG TGGCTATGGAGGTCGCGTCCCGTGTGGCTGTAGAGGTCGCTGTGTGACTA TGGAGGTCTCGTCTGTGTGGCTGTGGAGGTCG	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01884.hp1 HG02280.hp2 others(7): Show HG01496.hp1 HG01884.hp1 HG02280.hp2 HG02451.hp1 HG02886.hp1 HG02965.hp2 HG03195.hp2 HG03471.hp2 HG03516.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0012	a0001c0001t0007 a0001c0003t0007 a0001c0005t0006 others(2): Show a0001c0001t0007 a0001c0003t0007 a0001c0005t0006 a0001c0005t0017 a0001c0012t0004	a0001c0001t0007g0368 a0001c0001t0007g0369 a0001c0003t0007g0370 others(7): Show a0001c0001t0007g0368 a0001c0001t0007g0369 a0001c0003t0007g0370 a0001c0003t0007g0371 a0001c0003t0007g0372 a0001c0003t0007g0373 a0001c0005t0006g0375 a0001c0005t0006g0376 a0001c0005t0017g0104 a0001c0012t0004g0015	10	396	0.0253	-131	c.265 others(17): Show c.265-3224_265-3094del		CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr13	TogoVar
DHRS12_chr13_51762993_51809163	51775601	TCTCCTAC others(124): Show TCTCCTACAGTATTCTCCTACAGTATTCTCCTACATGTATTCTACAGTAT TCTCCTACATGTATTCTCCTACATGTATTCTCCTACAGTATTCTCCTACA GTATTCTCCTACATGTATTCTACAGTATTCTC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0066 a0001c0001t0004g0066	1	420	0.0024	-131	c.363 others(17): Show c.363+1328_363+1458del		DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8						chr13	TogoVar
DIRAS1_chr19_2709567_2726372	2713396	CTACACCG others(124): Show CTACACCGATCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACAC CCACCACCTCCTCCACCCTTAATGCCATCTCTCACTTCCTACACCCATCA CCTCCTCCACCCTTCATCCCATCCATCACTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG03942.hp1 HG02922.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0005 a0001c0001t0005g0022 a0001c0001t0004g0005 a0001c0001t0005g0022	2	412	0.0049	-131	c.36 others(11): Show c.3683_*3813del		DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding					1170		chr19	TogoVar
DMRT1_chr9_836697_974090	871519	TTTTGGTA others(124): Show TTTTGGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAG ACGCGAGCCACCGCGCCGGCTAACTTTTTGTA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03486.hp2 HG02647.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0007 a0001c0001t0009	a0001c0001t0007g0237 a0001c0001t0009g0278 a0001c0001t0007g0237 a0001c0001t0009g0278	2	306	0.0065	-131	c.539 others(19): Show c.539-22389_539-22259del		DMRT1	ENSG00000137090.12	transcript	ENST00000382276.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr9	TogoVar
DOK7_chr4_3458306_3499482	3490780	GGCTCATT others(124): Show GGCTCATTCATTCCTTCCTCTGCCCCCCCGCTCATTCATTCCTGCCTTCC CCCCATTCATTCCTTCCTTCCCCCCCACTCATTTCATTCCTTCATTACCC TCCTGCTCATTAATTTCTTCCTTCTCTCCTCT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp1 HG02809.hp2 HG02258.hp1 HG02451.hp1 HG02809.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0011 a0004c0007t0011	a0004c0007t0011g0100 a0004c0007t0011g0189 a0004c0007t0011g0319 a0004c0007t0011g0100 a0004c0007t0011g0189 a0004c0007t0011g0319	3	404	0.0074	-131	c.772 others(17): Show c.772+1003_772+1133del		DOK7	ENSG00000175920.18	transcript	ENST00000340083.6	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr4	TogoVar
ENOSF1_chr18_665318_717630	666895	GGTGATGG others(124): Show GGTGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGG TGATGGTGATGGAGATGGAGATGGTGATGGAGATGGAGATGGTGATGGTG ATGGAGATGGTGATGGTGATGGAGATGGAGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0020 a0001c0001t0032g0020	1	418	0.0024	-131	c.72 others(11): Show c.7279_*7409del		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3422		chr18	TogoVar
EPHA2_chr1_16119337_16161069	16142814	CGGGATGG others(124): Show CGGGATGGATAGGTGGATGGCTGGGTGGAGGGGTGGATAGATGGATGGAT GGGGCGGAGGATGGACAGATGAATGGACAAGTGGATGGGTGGGTTGGTGG GTGGACGGATGGATGAGTAGATGGATGGATGA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0231 a0001c0015t0001g0231	1	312	0.0032	-131	c.824 others(17): Show c.824-4515_824-4385del		EPHA2	ENSG00000142627.13	transcript	ENST00000358432.8	protein_coding	3/16						chr1	TogoVar
FER1L5_chr2_96637764_96709883	96659290	TTTCCTTC others(124): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0190 a0001c0002t0001g0190	1	226	0.0044	-131	c.748 others(16): Show c.748-1048_748-918del		FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52					INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT9_chr12_132191372_132334589	132288765	GTGGTTCT others(124): Show GTGGTTCTGGACGGCTGCCCGATGCCCAGCGTTGGAACCGGCAGGAGGGT GGCTGAGCGTGGTTTCGGACGGCTGCCCGATGCCCGGCGTTGGACCCGGC AGGAGGGTGGCTGAGCGTGGTTTCGGACGGCT	G G	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0026 a0001c0005t0001g0026	1	183	0.0055	-131	c.239 others(17): Show c.239-2466_239-2336del		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	1/10						chr12	TogoVar
GAS6_chr13_113815549_113869076	113841401	ATGCCTCA others(124): Show ATGCCTCACAGCGTTTCCTCCGTATGCCTCACAGTTTGCTCCGTACACCC GCGTTTCCTCCGTATGCCCCAGTTTCCTCCATATGCCTCAATTTCCTCCA TACGCCCCACAGTTTCCTCCGTATGCCCCAGT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03041.hp1 HG03540.hp2 others(1): Show HG02809.hp2 HG03041.hp1 HG03540.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 others(1): Show a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0138	4	143	0.0280	-131	c.344 others(17): Show c.344-1682_344-1552del		GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	4/14						chr13	TogoVar
GOLGA3_chr12_132763914_132833869	132787752	GGGACCCC others(124): Show GGGACCCCTCCCCGGAGACCACGGGACCCCTCCCCGGAGACCACGGGACC CCTCCCCGGAGACCCCGGGACCCCTCCCCGGAGACCCCGGGACCCCTCCC CGGAGACCCCGGGACCCCTTCCCGAGACCCCA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02615.hp1 HG03209.hp2 others(2): Show HG02486.hp2 HG02615.hp1 HG03209.hp2 HG03486.hp1 HG03579.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0018 a0005c0006t0043 a0005c0006t0044 others(1): Show a0005c0006t0018 a0005c0006t0043 a0005c0006t0044 a0005c0006t0081	a0005c0006t0018g0023 a0005c0006t0018g0102 a0005c0006t0043g0004 others(2): Show a0005c0006t0018g0023 a0005c0006t0018g0102 a0005c0006t0043g0004 a0005c0006t0044g0005 a0005c0006t0081g0308	5	308	0.0162	-131	c.281 others(18): Show c.2812-1096_2812-966del		GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	13/23						chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132817335	TAAGGTGA others(124): Show TAAGGTGAACCCGCCCTCCACACCTCCACACTCTAAGGTGAACCCGCCCT CCACACCTCCACACTCTAACGTGAACCCGCCCTCCACTCCTCCACGCTCT AAGGTGAACCCGCCCTCCACACCTCCACGCTC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0013 a0003c0008t0013	a0003c0008t0013g0264 a0003c0008t0013g0264	1	308	0.0033	-131	c.134 others(15): Show c.134-654_134-524del		GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	2/23						chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132817633	AAGGTGAA others(124): Show AAGGTGAACCCCCCCCCCACACCTCCACACTCTAAGGTGAACTCACCCTC CACTCCTCCACGCTCTAAGGTGAACCCGCCCTCCACACCTCCACGCTCTA AGGTGAACCCACCCTCCACACCTCCACGCTCT	A A	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0019 a0019	a0019c0040 a0019c0040	a0019c0040t0002 a0019c0040t0002	a0019c0040t0002g0234 a0019c0040t0002g0234	1	308	0.0033	-131	c.134 others(15): Show c.134-952_134-822del		GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	2/23						chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132817922	CACACTCT others(124): Show CACACTCTAAGGTGAACTCACCCTCCACTCCTCCACGCTCTAAGGTGAAC CCCCCCCCACACCTCCACACTCTAAGGTGAACTCACCCTCCACTCCTCCA CGCTCTAAGGTGAACCCACCCTCCACACCTGT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02559.hp1 HG02976.hp2 others(2): Show HG02145.hp2 HG02559.hp1 HG02976.hp2 HG03195.hp1 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0292 a0001c0003t0009g0293 a0001c0003t0009g0294 others(2): Show a0001c0003t0009g0292 a0001c0003t0009g0293 a0001c0003t0009g0294 a0001c0003t0009g0296 a0001c0003t0009g0300	5	308	0.0162	-131	c.134 others(17): Show c.134-1241_134-1111del		GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	2/23						chr12	TogoVar

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