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
ZNF862_chr7_149833375_149872479	149858875	A A	ATGGGCCA others(224): Show ATGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGG GCAGAGGGGCACACGCATGGGCCAGCTGTGGGGGCAGAGGGGCACACGCG TGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGG CAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGT GGGCCAGCTGTGGGGGCAGAGGGGCACACGCG	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA19010.hp1 NA19070.hp2 NA18995.hp2 NA19010.hp1 NA19070.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0052 a0002c0003t0003g0315 a0002c0003t0003g0052 a0002c0003t0003g0315	3	412	0.0073	231	c.111 others(248): Show c.1118-515_1118-514insGTGGGCCAGCTGTGGGGGCAGAGGGGCA CACGCATGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTG TGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCAC ACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGT GGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACA CGC	ZNF862	ENSG00000106479.11	transcript	ENST00000223210.5	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF862_chr7_149833375_149872479	149858875	A A	ATGGGCCA others(224): Show ATGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGG GCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCG TGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGG CAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGT GGGCCAGCTGTGGGGGCAGAGGGGCACACGCG	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA18947.hp1 HG02109.hp2 NA18947.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0014 a0001c0001 a0006c0014	a0001c0001t0004 a0006c0014t0013 a0001c0001t0004 a0006c0014t0013	a0001c0001t0004g0170 a0006c0014t0013g0055 a0001c0001t0004g0170 a0006c0014t0013g0055	2	412	0.0049	231	c.111 others(248): Show c.1118-515_1118-514insGTGGGCCAGCTGTGGGGGCAGAGGGGCA CACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTG TGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCAC ACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGT GGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACA CGC	ZNF862	ENSG00000106479.11	transcript	ENST00000223210.5	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF862_chr7_149833375_149872479	149858875	A A	ATGGGCCA others(224): Show ATGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGG GCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCG TGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGG CAGAGGGGCACGTGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGT GGGCCAGCTGTGGGGGCAGAGGGGCACACGCG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA19062.hp1 NA18968.hp2 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0086 a0001c0002t0003g0124 a0001c0002t0003g0086 a0001c0002t0003g0124	2	412	0.0049	231	c.111 others(248): Show c.1118-515_1118-514insGTGGGCCAGCTGTGGGGGCAGAGGGGCA CACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTG TGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCAC GTGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGT GGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACA CGC	ZNF862	ENSG00000106479.11	transcript	ENST00000223210.5	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF862_chr7_149833375_149872479	149859070	C C	CGCGTGGG others(224): Show CGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTG GGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACAC GCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGG GGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACG CGTGGGCCAGCTGTGGGGGCAGAGGGGCACGT	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18965.hp2 NA19002.hp2 HG02074.hp2 NA18965.hp2 NA19002.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0002 a0003c0006t0001 a0001c0001t0002 a0003c0006t0001	a0001c0001t0002g0105 a0003c0006t0001g0109 a0003c0006t0001g0123 a0001c0001t0002g0105 a0003c0006t0001g0109 a0003c0006t0001g0123	3	412	0.0073	231	c.111 others(248): Show c.1118-334_1118-333insGGCAGAGGGGCACACGCGTGGGCCAGCT GTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCA CACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTG TGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCAC ACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACGTGCGTGGGCCAGCTGT GGG	ZNF862	ENSG00000106479.11	transcript	ENST00000223210.5	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF862_chr7_149833375_149872479	149859070	C C	CGCGTGGG others(224): Show CGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTG GGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACAC GCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGG GGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACGTG CGTGGGCCAGCTGTGGGGGCAGAGGGGCACGT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0115 a0003c0006t0001g0115	1	412	0.0024	231	c.111 others(248): Show c.1118-334_1118-333insGGCAGAGGGGCACACGCGTGGGCCAGCT GTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCA CACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTG TGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCAC GTGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACGTGCGTGGGCCAGCTGT GGG	ZNF862	ENSG00000106479.11	transcript	ENST00000223210.5	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
ABR_chr17_998519_1184981	1117349	C C	CTCCCCAG others(225): Show CTCCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCCAGCGTTATCCCTGA GCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCTTT ATCCCTGAGCCTGAGTTCTCCCCAGCTTTATCCCTGAGCCTGAGTTCTCC CCAGCTTTATCCCTGAGCCTGAGTTCTCCCCAGCTTTATCCCTGAGCCTG AGTTCTCCCCAGCTTTATCCCTGAGCCTGAGTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0282 a0001c0001t0005g0282	1	337	0.0030	232	c.246 others(249): Show c.246+7833_246+7834insAACTCAGGCTCAGGGATAAAGCTGGGGA GAACTCAGGCTCAGGGATAAAGCTGGGGAGAACTCAGGCTCAGGGATAAA GCTGGGGAGAACTCAGGCTCAGGGATAAAGCTGGGGAGAACTCAGGCTCA GGGATAAAGCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGAGGAACT CAGGCTCAGGGATAACGCTGGGGAGGAACTCAGGCTCAGGGATAACGCTG GGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1118997	T T	TTCCTCCC others(225): Show TTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTATCCCTG AGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCCAGCG TTATCCCTGAGCCTGAGTTCTCCCCAGCGTTAACCCTGAGCCTGAGTTCC TCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCCAGCGTTATCCCTGAGCC TGAGTTCTCCCCAGCGTTATCCCTGAGCCTGAG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	337	0.0030	232	c.246 others(249): Show c.246+6185_246+6186insCTCAGGCTCAGGGATAACGCTGGGGAGA ACTCAGGCTCAGGGATAACGCTGGGGAGGACTCAGGCTCAGGGATAACGC TGGGAGGAACTCAGGCTCAGGGTTAACGCTGGGGAGAACTCAGGCTCAGG GATAACGCTGGGGAGGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTC AGGCTCAGGGATAACGCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGG AGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153445	G G	GTCCAGGC others(225): Show GTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAG GGCTAGGGATCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACC TACGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCA GGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTG GGGGTCCAGGCACACCTGCGGGAGGGCTAGGGA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0253 a0001c0001t0081g0253	1	337	0.0030	232	c.61+ others(249): Show c.61+26221_61+26222insTCCCTAGCCCTCCCGCAGGTGTGCCTGG ACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGT GTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTC CCGTAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGATCCC TAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCC TGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153794	G G	GTCCAGGC others(225): Show GTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAG GGCTGGGGACCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACC TGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGACCCA GGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTG GGGGTCCAGGCACACCTGCGGGAGGGCTGGGGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp1 HG03017.hp1 HG00642.hp1 HG00733.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0079 a0001c0001t0001 a0001c0001t0003 a0001c0001t0079	a0001c0001t0001g0058 a0001c0001t0003g0079 a0001c0001t0079g0267 a0001c0001t0001g0058 a0001c0001t0003g0079 a0001c0001t0079g0267	3	337	0.0089	232	c.61+ others(249): Show c.61+25872_61+25873insTCCCCAGCCCTCCCGCAGGTGTGCCTGG ACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGT GTGCCTGGGTCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTC CCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGGTCCC CAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCC TGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153808	A A	ACGGGAGG others(225): Show ACGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGACCCAG GCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGG GGGTCCAGGCACACCTGCGGGAGGGCTGGGGACCCAGGCACACCTGCGGG AGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACA CCTGCGGGAGGGCTGGGGATCCAGGCACACCTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	337	0.0030	232	c.61+ others(249): Show c.61+25858_61+25859insCAGGTGTGCCTGGATCCCCAGCCCTCCC GCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCA GCCCTCCCGCAGGTGTGCCTGGGTCCCCAGCCCTCCCGCAGGTGTGCCTG GACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGG TGTGCCTGGGTCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCT CCCG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACER3_chr11_76855918_77031797	77005992	T T	TATACATA others(225): Show TATACATATATATATATTATATATATATACGTATATATATATAATATATA TATACGTATATATATAATATATATATACGTATATATATATTATATATATA TACGTATATATATATTATATATATATACGTATATATATATTATATATATA TACGTATATATATATAATATATATATACGTATATATATATTATATATATA TACGTATATATATATTATATATATATACGTATA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0323 a0002c0004t0006g0323	1	346	0.0029	232	c.497 others(249): Show c.497+7171_497+7172insATACATATATATATATTATATATATATA CGTATATATATATAATATATATATACGTATATATATAATATATATATACG TATATATATATTATATATATATACGTATATATATATTATATATATATACG TATATATATATTATATATATATACGTATATATATATAATATATATATACG TATATATATATTATATATATATACGTATATATATATTATATATATATACG TATA	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	7/10			chr11	TogoVar
ADAMTS17_chr15_99966437_100346975	100162442	A A	ATTATGTG others(225): Show ATTATGTGTATATATATGCACATATACACATGCGTGTATATATATGCACA TATACACATGCGTGTATATATATGCACATATACACATGCGTGTATATATA TGCACATATACACATGCGTGTATATATATGCACATATACACATGCGTGTA TATATATGCACATATACACATTATATGTGTATATATATGCACATATACAC ATTATATGTGTATATATATGCACATATACACAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03540.hp2 HG02717.hp2 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0010 a0002c0011 a0001c0010 a0002c0011	a0001c0010t0020 a0002c0011t0042 a0001c0010t0020 a0002c0011t0042	a0001c0010t0020g0004 a0002c0011t0042g0111 a0001c0010t0020g0004 a0002c0011t0042g0111	2	228	0.0088	232	c.118 others(251): Show c.1182-7123_1182-7122insATGTGTATATGTGCATATATATACAC ATATAATGTGTATATGTGCATATATATACACATATAATGTGTATATGTGC ATATATATACACGCATGTGTATATGTGCATATATATACACGCATGTGTAT ATGTGCATATATATACACGCATGTGTATATGTGCATATATATACACGCAT GTGTATATGTGCATATATATACACGCATGTGTATATGTGCATATATATAC ACATAA	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	8/21			chr15	TogoVar
ADAMTS2_chr5_179105853_179350461	179277906	C C	CCCCCCCC others(225): Show CCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAACGGCTGACGCC CCCGCGAGACCAAAGGCTGACCCCCTCCGAGACCAAAGGCTGACACCCCC CGAGACCAAAGGCTGACCGCCCCCGAGACCAAAGGCTGACCGCCCCCGAG ACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGACC AAAGGCTGACCCCCCCGCGAGACCAAAGGCTGA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0015 a0015	a0015c0087 a0015c0087	a0015c0087t0001 a0015c0087t0001	a0015c0087t0001g0200 a0015c0087t0001g0200	1	276	0.0036	232	c.535 others(249): Show c.535-4843_535-4842insTCAGCCTTTGGTCTCGCGGGGGGGTCAG CCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCT TTGGTCTCGGGGGCGGTCAGCCTTTGGTCTCGGGGGCGGTCAGCCTTTGG TCTCGGGGGGTGTCAGCCTTTGGTCTCGGAGGGGGTCAGCCTTTGGTCTC GCGGGGGCGTCAGCCGTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGG GGGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADGRE2_chr19_14727392_14783560	14774674	T T	TTTTCTTT others(225): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0035 a0001c0001t0022g0035	1	218	0.0046	232	c.32- others(245): Show c.32-369_32-368insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	2/20			chr19	TogoVar
ADHFE1_chr8_66427504_66473907	66469645	T T	TTCTTTTC others(225): Show TTCTTTTCTTTTTTTTTTTTTAATGTTTTTTTTTTTTATTATACTCTAAG TTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATG TGCCATGCTGGTGCGCTGCACCCGCTAACGTGTCATCTAGCATTAGGTAT ATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCA GAGTGTGATATTCCCCTTCCTGTGTCCATGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00597.hp2 others(46): Show HG00408.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00733.hp1 HG00741.hp2 HG01074.hp2 HG01109.hp1 HG01192.hp2 HG01256.hp1 HG01261.hp1 HG01361.hp2 HG01928.hp1 HG01952.hp1 HG01981.hp2 HG01993.hp1 HG02630.hp1 HG02735.hp2 HG02886.hp1 HG03017.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03710.hp1 HG04228.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18946.hp2 NA18951.hp1 NA18952.hp1 NA18962.hp2 NA18967.hp2 NA18975.hp1 NA18981.hp2 NA18988.hp2 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18995.hp2 NA18999.hp1 NA19009.hp1 NA19054.hp2 NA19058.hp2 NA19079.hp2 NA19086.hp2 NA19088.hp1 NA19240.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0004 a0001c0001t0001 a0001c0005t0004	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(36): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0077 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0184 a0001c0001t0001g0190 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0005t0004g0125	49	402	0.1219	232	c.12 others(243): Show c.1293_*1294insTCTTTTCTTTTTTTTTTTTTAATGTTTTTTTTTT TTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTT ACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCGCTAACGTGTCA TCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACC CCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGA	ADHFE1	ENSG00000147576.17	transcript	ENST00000396623.8	protein_coding		739		chr8	TogoVar
AFF2_chrX_148495617_149005663	148581337	T T	TACGTGTA others(225): Show TACGTGTACACACATATACACGTATACGTGTACACACATATACACGTATA CGTGTACACACATACACGTATACGTGTACACACATATACACGTATACGTG TACACACATATACACGTATACGTGTACACACATATACACGTATACGTGTA CACACATATACACGTATACGTGTACACACATATACACGTATACGTGTACA CACATATACACGTATACGTGTACACACATATAC	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0052 a0001c0001t0081g0052	1	169	0.0059	232	c.48- others(249): Show c.48-70658_48-70657insGTACACACATATACACGTATACGTGTAC ACACATATACACGTATACGTGTACACACATACACGTATACGTGTACACAC ATATACACGTATACGTGTACACACATATACACGTATACGTGTACACACAT ATACACGTATACGTGTACACACATATACACGTATACGTGTACACACATAT ACACGTATACGTGTACACACATATACACGTATACGTGTACACACATATAC ACGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AHRR_chr5_316714_443285	397033	C C	CCCTGACC others(225): Show CCCTGACCATCCATGTTAGCCCCTGACCATCCACGTAGCCCCTGACCATC CACGTAGCCCCTGACCATCCACGTAGCCCCTGACCATCCATGTTAGCCCC TGACCATCCATGTTAGCCCCTGACCATCCACGTAGCTCCTGACCATCCAT GTTAGCCCCTGACCATCCACATAGCCCCTGACCATCCACGTAGCCCCTGA CCATCCACGTAGCCCCTGACCATCCACGTAGCT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	268	0.0037	232	c.352 others(251): Show c.352-16303_352-16072dupATCCATGTTAGCCCCTGACCATCCAC GTAGCCCCTGACCATCCACGTAGCCCCTGACCATCCACGTAGCCCCTGAC CATCCATGTTAGCCCCTGACCATCCATGTTAGCCCCTGACCATCCACGTA GCTCCTGACCATCCATGTTAGCCCCTGACCATCCACATAGCCCCTGACCA TCCACGTAGCCCCTGACCATCCACGTAGCCCCTGACCATCCACGTAGCTC CTGACC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AK5_chr1_77277019_77564966	77367854	A A	AATATATG others(225): Show AATATATGTTATATATATTATATATTATATGTTATATATATTATATATAA TATGTTATATATATTATATATAATATATATGTTATATATAATATATGTTA TATATATTATATATAACATATGTTATATATAATATATATAACATATGTTA TATATAATATATATAACATATGTTATATATAATATATATAACATATGTTA TATATAATATATATAACATATGTTATATATAAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03041.hp2 HG03486.hp2 HG02922.hp1 HG03041.hp2 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0012 a0001c0001t0001 a0002c0002t0002 a0002c0002t0012	a0001c0001t0001g0004 a0002c0002t0002g0002 a0002c0002t0012g0003 a0001c0001t0001g0004 a0002c0002t0002g0002 a0002c0002t0012g0003	3	284	0.0106	232	c.891 others(251): Show c.891+27292_891+27293insGTTATATATATTATATATTATATGTT ATATATATTATATATAATATGTTATATATATTATATATAATATATATGTT ATATATAATATATGTTATATATATTATATATAACATATGTTATATATAAT ATATATAACATATGTTATATATAATATATATAACATATGTTATATATAAT ATATATAACATATGTTATATATAATATATATAACATATGTTATATATAAT ATATAT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AMFR_chr16_56356452_56430545	56406111	A A	AGAGGGGG others(225): Show AGAGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGGAGAGGG GGGAGAGGGGGAAGGGGGGGGGGGAGGGGGGGAGAGGGGGGAGAGGGGGA AGGGGGAGGGGAGGGGGAGAGGGGGGAGGGGAGAGGGGGGAGGGGAGAGG GGAGAGAGAAGGGAGGGGGGGAGGGGAGAGGAGAGAGAGGAGGGGGAGGG GGGGAGAGGGGGGAGGGGGGGGAGAGGGGGGAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0021 a0001c0001t0006g0021	1	356	0.0028	232	c.667 others(247): Show c.667-868_667-867insCTCCCCCCTCTCCCCCCCCTCCCCCCTCTC CCCCCCTCCCCCTCCTCTCTCTCCTCTCCCCTCCCCCCCTCCCTTCTCTC TCCCCTCTCCCCTCCCCCCTCTCCCCTCCCCCCTCTCCCCCTCCCCTCCC CCTTCCCCCTCTCCCCCCTCTCCCCCCCTCCCCCCCCCCCTTCCCCCTCT CCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCC TC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
ANXA2R_chr5_43034371_43045319	43043912	T T	TATATTAT others(225): Show TATATTATATAATATATAATATATATAATATATTATATAATATATAATAT ATATAATATATTATATAATATATAATATATATAATATATTATATAATATA TAATATATATAATATATTATATAATATATAATATATATAATATATTATAT AATATATAATATATAATATATTATATAATATATAATATATATAATATATT ATATAATATATAATATATATAATATATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	296	0.0034	232	c.-38 others(243): Show c.-3867_-3866insTATATAATATATTATATATATTATATATTATATA ATATATTATATATATTATATATTATATAATATATTATATATTATATATTA TATAATATATTATATATATTATATATTATATAATATATTATATATATTAT ATATTATATAATATATTATATATATTATATATTATATAATATATTATATA TATTATATATTATATAATATATTATATATATTATATATTATATAATAT	ANXA2R	ENSG00000177721.5	transcript	ENST00000616064.2	protein_coding		3594		chr5	TogoVar
AP3S2_chr15_89825599_89898994	89868957	G G	GCCCCCCG others(225): Show GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGG TTGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG01515.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0168 a0001c0001t0001g0171	2	312	0.0064	232	c.345 others(249): Show c.345+2517_345+2518insGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGG GCCAACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGG	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
APCDD1_chr18_10449635_10494949	10462540	C C	CCCTTCCT others(225): Show CCCTTCCTTCCTTCCTTCCTTCCTGTGACCCTCCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTGTGACCCTCCCTTCCTCCCTTCCTTCCTTCCTGTGA CCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCTTCCTTCCTTCCTTC CTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTGTGACCCTCCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0159 a0001c0001t0004g0159	1	422	0.0024	232	c.59- others(247): Show c.59-5914_59-5913insTCCTTCCTGTGACCCTCCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTGTGACCCTCCCTTCCTCCCTTCCTTCCTTCCT GTGACCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCTTCCTTCCTTC CTTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTGTGACCCTCCCTTCCTTCCTTCCTTCCTTC CT	APCDD1	ENSG00000154856.13	transcript	ENST00000355285.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr18	TogoVar
API5_chr11_43306996_43349529	43310873	A A	AATATATA others(225): Show AATATATAATATATATTATATATACAATTGTATATATAATATATATTATA TATAATTGTATATATAATATATATTATATATAATTGTATATATAATATAT ATTATATATAATTGTATATATAATATATATTATATATAATTGTATATATA ATATATATTATATATATAATTGTATATATAATATATATTATATATATAAT TGTATATATAATATATATTATATATATAATTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG04204.hp1 others(2): Show HG01515.hp1 HG01517.hp1 HG04204.hp1 NA19003.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0087 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0087 a0001c0001t0001g0169	5	384	0.0130	232	c.-12 others(243): Show c.-1255_-1254insATATATAATATATATTATATATACAATTGTATAT ATAATATATATTATATATAATTGTATATATAATATATATTATATATAATT GTATATATAATATATATTATATATAATTGTATATATAATATATATTATAT ATAATTGTATATATAATATATATTATATATATAATTGTATATATAATATA TATTATATATATAATTGTATATATAATATATATTATATATATAATTGT	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1122		chr11	TogoVar
API5_chr11_43306996_43349529	43310873	A A	AATATATA others(225): Show AATATATAATATATATTATATATATAATTGTATATATAATATATATTATA TATAATTGTATATATAATATATATTATATATAATTGTATATATAATATAT ATTATATATAATTGTATATAATATATATTATATATAATTGTATATATAAT ATATATTATATATATAATTGTATATATAATATATATTATATATATAATTG TATATATAATATATATTATATATATAATTGTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01255.hp1 HG01257.hp1 others(27): Show HG00741.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG02083.hp1 HG02129.hp1 HG02145.hp1 HG02148.hp1 HG02451.hp1 HG02735.hp1 HG02886.hp2 HG03831.hp1 HG03927.hp1 NA18950.hp1 NA18962.hp2 NA18964.hp1 NA18970.hp1 NA18979.hp1 NA18980.hp2 NA18985.hp2 NA18986.hp2 NA18998.hp1 NA18999.hp1 NA19002.hp2 NA19011.hp1 NA19080.hp1 NA19083.hp1 NA19085.hp1 NA19090.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0040 a0001c0001t0001g0041 others(15): Show a0001c0001t0001g0004 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0208	30	384	0.0781	232	c.-12 others(243): Show c.-1255_-1254insATATATAATATATATTATATATATAATTGTATAT ATAATATATATTATATATAATTGTATATATAATATATATTATATATAATT GTATATATAATATATATTATATATAATTGTATATAATATATATTATATAT AATTGTATATATAATATATATTATATATATAATTGTATATATAATATATA TTATATATATAATTGTATATATAATATATATTATATATATAATTGTAT	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1122		chr11	TogoVar
API5_chr11_43306996_43349529	43310873	A A	AATATATA others(225): Show AATATATAATATATATTATATATATAATTGTATATATAATATATATTATA TATAATTGTATATATAATATATATTATATATAATTGTATATATAATATAT ATTATATATAATTGTATATATAATATATATTATATATATAATTGTATATA TAATATATATTATATATATAATTGTATATATAATATATATTATATATAAT TGTATATATAATATATATTATATATATAATTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	384	0.0026	232	c.-12 others(243): Show c.-1255_-1254insATATATAATATATATTATATATATAATTGTATAT ATAATATATATTATATATAATTGTATATATAATATATATTATATATAATT GTATATATAATATATATTATATATAATTGTATATATAATATATATTATAT ATATAATTGTATATATAATATATATTATATATATAATTGTATATATAATA TATATTATATATAATTGTATATATAATATATATTATATATATAATTGT	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1122		chr11	TogoVar
API5_chr11_43306996_43349529	43310873	A A	AATATATA others(225): Show AATATATAATATATATTATATATATAATTGTATATATAATATATATTATA TATAATTGTATATATAATATATATTATATATAATTGTATATATAATATAT ATTATATATAATTGTATATATTATATATTATATATATAATTGTATATATA ATATATATTATATATATAATTGTATATATAATATATATTATATATATAAT TGTATATATAATATATATTATATATATAATTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	384	0.0026	232	c.-12 others(243): Show c.-1255_-1254insATATATAATATATATTATATATATAATTGTATAT ATAATATATATTATATATAATTGTATATATAATATATATTATATATAATT GTATATATAATATATATTATATATAATTGTATATATTATATATTATATAT ATAATTGTATATATAATATATATTATATATATAATTGTATATATAATATA TATTATATATATAATTGTATATATAATATATATTATATATATAATTGT	API5	ENSG00000166181.13	transcript	ENST00000531273.6	protein_coding		1122		chr11	TogoVar
ARFGAP1_chr20_63267813_63294790	63294172	C C	CGGGGGGA others(225): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTGGGGGGAGGGGAGTGCG GGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCG GGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGGGGGGAGGGGAGTGC GGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGC GGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 NA18944.hp2 NA19043.hp2 HG01099.hp2 NA18944.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0001 a0001c0001t0001g0023	3	342	0.0088	232	c.62 others(243): Show c.6299_*6300insGGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTGG GGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGGG GGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGG GGGGGAGGGGAGTGCGGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGG GGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4383		chr20	TogoVar
ARFGAP1_chr20_63267813_63294790	63294172	C C	CGGGGGGA others(225): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGCG GGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCG GGGGAAGGGGGAGTGCGGGGGGGAGGGGGAGTGTGGGGGGGAGGGGAGTG CGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGC GGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0053 a0001c0001t0003g0053	1	342	0.0029	232	c.62 others(243): Show c.6299_*6300insGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCG GGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGGG GGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGGAGGGGGAGTGTG GGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGG GGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4383		chr20	TogoVar
ARFGAP1_chr20_63267813_63294790	63294172	C C	CGGGGGGA others(225): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTG GGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGGAGTGCG GGGGAAGGGGGGAGTGCGGGGGGAGGGGGAGTGTGGGGGGGAGGGGAGTG CGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGC GGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	342	0.0029	232	c.62 others(243): Show c.6299_*6300insGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCG GGGGAGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGG GGGAGGGGGAGTGCGGGGGAAGGGGGGAGTGCGGGGGGAGGGGGAGTGTG GGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGG GGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4383		chr20	TogoVar
ARFGAP1_chr20_63267813_63294790	63294172	C C	CGGGGGGA others(225): Show CGGGGGGAGGGGGGAGTGCGGGGGAGGGGAGTGTGGGGGGAGGGGAGTGC GGGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGC GGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGGGGGGAGGGGAGTG CGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGC GGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0086 a0002c0002t0001g0086	1	342	0.0029	232	c.62 others(243): Show c.6299_*6300insGGGGGGAGGGGGGAGTGCGGGGGAGGGGAGTGTG GGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGGAGGGGAGTGCGG GGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTG GGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGG GGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	ARFGAP1	ENSG00000101199.13	transcript	ENST00000370283.9	protein_coding		4383		chr20	TogoVar
ARHGAP39_chr8_144524179_144690846	144562529	G G	GACTCCAG others(225): Show GACTCCAGTGGTTTCCATCGGACCCCAGTCGTTTCCATCACACTCCAGTG GTTTCCATCGGACTCACTCCAGTGGTTTCCATCGGACTCACTCCAGTGGT TTCCATCGGACTCACTCCAGTGGTTTCCATCACACTCCAGTGGTTTCCAT CGGACTCCAGTGGTTTCCATCGGACTCCAGTGGTTTCCATCGGACTCCAG TGGTTTCCATCACACTCCAGTGGTTTCCATCAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0012 a0001c0003t0001g0012	1	246	0.0041	232	c.513 others(249): Show c.513-6887_513-6886insGTGATGGAAACCACTGGAGTGTGATGGA AACCACTGGAGTCCGATGGAAACCACTGGAGTCCGATGGAAACCACTGGA GTCCGATGGAAACCACTGGAGTGTGATGGAAACCACTGGAGTGAGTCCGA TGGAAACCACTGGAGTGAGTCCGATGGAAACCACTGGAGTGAGTCCGATG GAAACCACTGGAGTGTGATGGAAACGACTGGGGTCCGATGGAAACCACTG GAGT	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	3/11			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1825238	T T	TCCCCTCG others(225): Show TCCCCTCGCACCCCACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCA CCCCAGCTGTCCCCCCACACCCCACCTGTTCACCCGCACTCCACCTGTCC CCCCGCACTCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCTGCACCTC ACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCC GCACCCCACCTGTCCCCCCGCACCCCACCTGTC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0002 a0002	a0002c0034 a0002c0034	a0002c0034t0004 a0002c0034t0004	a0002c0034t0004g0148 a0002c0034t0004g0148	1	363	0.0028	232	c.-48 others(249): Show c.-48+1129_-48+1130insTCGCACCCCACCTGTCCTCCCCACACCC CACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCAC CCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCTGCACCTCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGC ACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTC CCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ARID3A_chr19_921035_980939	950177	T T	TGAACGGA others(225): Show TGAACGGATGGATGAGGCCGTCCCCAGAGTGAACGGATGGATGAGGCCGT CCCCAGAGTGAACGGATGGATGAGGCCGTCCCCAGAGTGAACGGATGGAT GAGGCCGTCCCCAGAGTGAACGGATGGATGAGGCCGTGCCCAGAGTGAAC GGATGGATGAGGCCGTCCCCAGAGGGAACGGATGGATGAGGCCGTCCCCA GAGGGAACGGATGGATGAGGCCGTCCCCAGAGG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0248 a0001c0001t0248	a0001c0001t0248g0142 a0001c0001t0248g0142	1	364	0.0028	232	c.694 others(249): Show c.694-9887_694-9886insTGAACGGATGGATGAGGCCGTCCCCAGA GTGAACGGATGGATGAGGCCGTCCCCAGAGTGAACGGATGGATGAGGCCG TCCCCAGAGTGAACGGATGGATGAGGCCGTGCCCAGAGTGAACGGATGGA TGAGGCCGTCCCCAGAGGGAACGGATGGATGAGGCCGTCCCCAGAGGGAA CGGATGGATGAGGCCGTCCCCAGAGGGAACGGATGGATGAGGCCGTCCCC AGAG	ARID3A	ENSG00000116017.11	transcript	ENST00000263620.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCTCCCCC others(225): Show CCTCCCCCTCCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCC TCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTCCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0088 a0001c0001t0014g0088	1	264	0.0038	232	c.102 others(249): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTC CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTC CCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARL13B_chr3_93975155_94060678	94043545	C C	CCTCCCCC others(225): Show CCTCCCCCTCCCCCTCCCCCCTCCTCCCCCTTCCCCTCCCTCCCCCTCCC TCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCC CCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp2 HG02602.hp1 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0212 a0001c0001t0001g0127 a0001c0001t0001g0212	2	264	0.0076	232	c.102 others(249): Show c.1024+318_1024+319insTCCCCCCTCCTCCCCCTTCCCCTCCCTC CCCCTCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCCTTCCCCTCCCCCTC CCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCCCT CCCCCTCCCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCTCCCCCTC CCCC	ARL13B	ENSG00000169379.17	transcript	ENST00000394222.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP10A_chr15_25673712_25868327	25758421	A A	ACTCATTC others(225): Show ACTCATTCCGACCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCC TAACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCCAC CCTAACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTCATTCCGACCACCTGCT CCACCCTAACTCATTCCGATCACCTGCTCCACC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0043 a0043	a0043c0042 a0043c0042	a0043c0042t0001 a0043c0042t0001	a0043c0042t0001g0042 a0043c0042t0001g0042	1	300	0.0033	232	c.655 others(251): Show c.655-22281_655-22280insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGGTCGGAATGAG TTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATG AGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAA TGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGGTCGG AATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50085877	T T	TTATATAT others(225): Show TTATATATTTATATATGATATATATCATATATATTTATATATGATATATA TCATATTTATATATGATATATATCATATTTATATATGATATATATCATAT TTATATATGATATATATCATATTTATATATGATATATATCATATTTATAT ATGATATATATCATATTTATATATGATATATATCATATTTATATATGATA TATATCATATATATTTATATATGATATATATCA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0074 a0001c0001t0004g0074	1	254	0.0039	232	c.29- others(249): Show c.29-11693_29-11692insTGATATATATCATATATAAATATATATG ATATATATCATATATAAATATGATATATATCATATATAAATATGATATAT ATCATATATAAATATGATATATATCATATATAAATATGATATATATCATA TATAAATATGATATATATCATATATAAATATGATATATATCATATATAAA TATGATATATATCATATATAAATATATATGATATATATCATATATAAATA TATA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
AUTS2_chr7_69593475_70798506	70003599	T T	TTATATAT others(225): Show TTATATATGTATATATAATATATATGAATATGTTATATATGAATGTGTTA TATATGAATATATATAATATATATGAATGTGTTATATATGAATATATATA ATATATATGAATGTTATATATGAATATATAATATATATGAATGTGTTATA TATGAATATATATAATATATATGAATGTGTTATATATGAATATATATAAT ATATATGAATGTGTTATATATGAATATATATAA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02622.hp1 HG01952.hp2 HG02622.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0010 a0001c0001 a0002c0010	a0001c0001t0005 a0002c0010t0033 a0001c0001t0005 a0002c0010t0033	a0001c0001t0005g0005 a0002c0010t0033g0014 a0001c0001t0005g0005 a0002c0010t0033g0014	2	76	0.0263	232	c.522 others(253): Show c.522+104109_522+104110insTATATATAATATATATGAATATGT TATATATGAATGTGTTATATATGAATATATATAATATATATGAATGTGTT ATATATGAATATATATAATATATATGAATGTTATATATGAATATATAATA TATATGAATGTGTTATATATGAATATATATAATATATATGAATGTGTTAT ATATGAATATATATAATATATATGAATGTGTTATATATGAATATATATAA TATATATG	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
B4GALNT3_chr12_454939_568509	511596	G G	GCCTTCCA others(225): Show GCCTTCCACCTTCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCCAC CTTCTTCCACCTTCCACCTTCCACCTTCTACCTTCCTTCCACCTTCCACC TTCCGCCTTCGACCTTCTTCCACCTTCCACCTTCCACCTTCCACCTTCTT CCACCTTCTTCCACCTTCCACCTTCCACCTTCCACCTTCTTCCACCTTCC ACCTTCCACCTTCTACCTTCCTTCCACCTTCCA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0016 a0016	a0016c0032 a0016c0032	a0016c0032t0002 a0016c0032t0002	a0016c0032t0002g0006 a0016c0032t0002g0006	1	394	0.0025	232	c.170 others(251): Show c.170-23558_170-23557insTTCCACCTTCTTCCACCTTCCACCTT CCACCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCTACCTTCCTTC CACCTTCCACCTTCCGCCTTCGACCTTCTTCCACCTTCCACCTTCCACCT TCCACCTTCTTCCACCTTCTTCCACCTTCCACCTTCCACCTTCCACCTTC TTCCACCTTCCACCTTCCACCTTCTACCTTCCTTCCACCTTCCACCTTCC ACCTTC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT4_chr11_364499_387117	374899	G G	GAGGGAGG others(225): Show GAGGGAGGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGG AAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGA GGAGGAAGGAGGGAGGAGGAGGGAGGGAGGAGGAAGGGAGGAGGAAGGGA GGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0129 a0002c0004t0002g0129	1	184	0.0054	232	c.784 others(247): Show c.784-550_784-549insAGGGAGGGAGGGAGGAGGAAGGGAGGGAGG GAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGAGGAAGGAGGGAGGAGGAGGGAGGGAGGAGGAAGGGAGGAG GAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAG GA	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374952	G G	GAGGAGGA others(225): Show GAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAG GGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	184	0.0054	232	c.784 others(247): Show c.784-506_784-505insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GAGGGGGG others(225): Show GAGGGGGGGAGGGGGGAGGGAGGGGGAGGGGGGGAGGGGGGAGGGGGAAG GAGAGGGGGGATGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGAGGGGGGGAGGGGGAGGGGGAGAGGGGGGAGGGGAG GGGGAGAGGGGGGAGGGAGAGGGGGAGGGAGATGGACTGGGGAGGAGGGG GATGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0018 a0001c0009t0002g0018	1	298	0.0034	232	c.51+ others(245): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCCCCTCCCCCTCCCCCCCTCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCATCCCCCCTCT CCTTCCCCCTCCCCCCTCCCCCCCTCCCCCTCCCTCCCCCCTCCCCCCCT	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(225): Show GGGAGGGAGAGGGGGAGGGGGAGGGAGGGGGAGGGGGGAGGGGGAGGGGG AAGGAGAGGGGGGATGGGGAGGGGGGAGGGGGGAGGGAGGGGGAGGGGGA GGGGGAGGGGAGGGGAGGGGGAGGAGGGGGAGGGAGGGGTGAGGGTGAGG GGGAGAGGGGGAGGGATGAGGGGAGGAGATGGACTGGGGAGGACAGGGGG ATGGACTGGGGAGGAGGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0133 a0001c0001t0014g0133	1	298	0.0034	232	c.51+ others(245): Show c.51+438_51+439insTCCCCAGTCCATCCCCCCTCCTCCCCAGTCCA TCCCCCTGTCCTCCCCAGTCCATCTCCTCCCCTCATCCCTCCCCCTCTCC CCCTCACCCTCACCCCTCCCTCCCCCTCCTCCCCCTCCCCTCCCCTCCCC CTCCCCCTCCCCCTCCCTCCCCCCTCCCCCCTCCCCATCCCCCCTCTCCT TCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(225): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAGGGGGGAGGGGGAGGGG GAAGGAGAGGGGGGATGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGAGGG GGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGAGAGGGGGAGGGGAG GGGGAGAGGGGGGAGGGAGAGGGGGAGGGAGATGGACTGGGGAGGAGGGG GATGGACTGGGGAGGAGGGGGATGGACTGGGGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02738.hp1 HG00544.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0077 a0001c0001t0002g0078	2	298	0.0067	232	c.51+ others(245): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCTCTCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCATCCCCCCTCTCCTT CCCCCTCCCCCTCCCCCCTCCCCCTCCCTCCCCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BOC_chr3_113206557_113292459	113236284	A A	ATATATAT others(225): Show ATATATATATATATATATATATATATATACCCATGGGTATATATATATAT ATATATATATACCCATGGGTATATATATATATATATATATATACCCATGG GTATATATATATATATATATATATATATACCCATGGGTATATATATATAT ATATATATATACCCATGGGTATATATATATATATATATATATACCCATGG GTATATATATATATATATATATATACCCATGGG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	386	0.0026	232	c.-81 others(251): Show c.-81-13403_-81-13402insGTATATATATATATATATATATATAC CCATGGGTATATATATATATATATATATATACCCATGGGTATATATATAT ATATATATATATATATACCCATGGGTATATATATATATATATATATATAC CCATGGGTATATATATATATATATATATATACCCATGGGTATATATATAT ATATATATATATACCCATGGGTATATATATATATATATATATATATATAC CCATGG	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BRSK2_chr11_1384934_1467689	1435232	A A	AGCGGAGG others(225): Show AGCGGAGGAGGGGTGCCGGTGGATGTCTCAGCGGAGGAGGGGTGCCGGTG GGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGG TGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGG AGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGT CTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0033 a0002c0002t0033	a0002c0002t0033g0286 a0002c0002t0033g0286	1	360	0.0028	232	c.92- others(245): Show c.92-787_92-786insATGTCTCAGCGGAGGAGGGGTGCCGGTGGGGG TCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCC GGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGA GGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCG GCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C18orf63_chr18_74310839_74364189	74361934	A A	AATTATAT others(225): Show AATTATATATTTACGTATAATATAATTTATAATTATATATTTACGTATAA TATAATTTATAATTATATATTTACGTATAATATAATTTATAATTATATAC GTATAATATAATTTATATTATATATGTATATAATATAATTTATAATTATA TATTTATATATAATATAATTTATATTATATATGTATATAATATAATTTAT AATTATATATTTATATATAATATAAATTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0004 a0005c0006t0004	a0005c0006t0004g0025 a0005c0006t0004g0025	1	372	0.0027	232	c.54 others(243): Show c.5487_*5488insATTATATATTTACGTATAATATAATTTATAATTA TATATTTACGTATAATATAATTTATAATTATATATTTACGTATAATATAA TTTATAATTATATACGTATAATATAATTTATATTATATATGTATATAATA TAATTTATAATTATATATTTATATATAATATAATTTATATTATATATGTA TATAATATAATTTATAATTATATATTTATATATAATATAAATTATATT	C18orf63	ENSG00000206043.7	transcript	ENST00000579455.2	protein_coding		2746		chr18	TogoVar
C18orf63_chr18_74310839_74364189	74361934	A A	AATTATAT others(225): Show AATTATATATTTACGTATAATATAATTTATAATTATATATTTACGTATAA TATAATTTATAATTATATATTTACGTATAATATAATTTATAATTATATAC GTATAATATAATTTATATTATATATGTATATAATATAATTTATAATTATA TATTTATATATAATATAATTTATATTATATATGTATATAATATAATTTAT AATTATATATTTATATATAATATAATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG01123.hp2 others(20): Show HG00099.hp2 HG00544.hp1 HG01123.hp2 HG01496.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG02015.hp1 HG02056.hp2 HG02080.hp2 HG02148.hp1 HG02273.hp1 HG03831.hp1 HG03834.hp2 HG04199.hp2 NA18612.hp1 NA18943.hp1 NA18991.hp1 NA18999.hp1 NA19055.hp2 NA19080.hp1 NA19086.hp2 NA20300.hp1	a0004 a0005 a0004 a0005	a0004c0005 a0005c0006 a0004c0005 a0005c0006	a0004c0005t0004 a0004c0005t0023 a0005c0006t0004 a0004c0005t0004 a0004c0005t0023 a0005c0006t0004	a0004c0005t0004g0012 a0004c0005t0004g0056 a0004c0005t0004g0210 others(14): Show a0004c0005t0004g0012 a0004c0005t0004g0056 a0004c0005t0004g0210 a0004c0005t0004g0211 a0004c0005t0004g0227 a0004c0005t0004g0228 a0004c0005t0004g0230 a0004c0005t0004g0231 a0004c0005t0004g0232 a0004c0005t0023g0012 a0005c0006t0004g0024 a0005c0006t0004g0025 a0005c0006t0004g0218 a0005c0006t0004g0219 a0005c0006t0004g0233 a0005c0006t0004g0234 a0005c0006t0004g0235	23	372	0.0618	232	c.54 others(243): Show c.5487_*5488insATTATATATTTACGTATAATATAATTTATAATTA TATATTTACGTATAATATAATTTATAATTATATATTTACGTATAATATAA TTTATAATTATATACGTATAATATAATTTATATTATATATGTATATAATA TAATTTATAATTATATATTTATATATAATATAATTTATATTATATATGTA TATAATATAATTTATAATTATATATTTATATATAATATAATTTATATT	C18orf63	ENSG00000206043.7	transcript	ENST00000579455.2	protein_coding		2746		chr18	TogoVar
C2orf80_chr2_208160347_208195030	208176941	C C	CTGTATAC others(225): Show CTGTATACATATCTGTATACATATGTATACATATCTGTATACATATCTGT ATACATATGTATACATATCTGTATACATATGTATACATATCTGTATACAT ATGTATACATATCTGTATACATATGTATACATATCTGTATACATATGTAT ACATATCTGTATACATATGTATACATATCTGTATACATATGTATACATAT CTGTATACATATGTATACATATCTGTATACATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0275 a0006c0007t0001g0275	1	342	0.0029	232	c.366 others(249): Show c.366+3803_366+3804insTATGTATACAGATATGTATACATATGTA TACAGATATGTATACATATGTATACAGATATGTATACATATGTATACAGA TATGTATACATATGTATACAGATATGTATACATATGTATACAGATATGTA TACATATGTATACAGATATGTATACATATGTATACAGATATGTATACATA TGTATACAGATATGTATACAGATATGTATACATATGTATACAGATATGTA TACA	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
C4orf19_chr4_37448925_37598510	37585313	C C	CAGAGGTG others(225): Show CAGAGGTGTTGAGGGAAGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGA GGGTAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGATGTTGAG GGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAG ATATCGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGA GAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0009 a0001c0001t0018g0008 a0001c0001t0001g0009 a0001c0001t0018g0008	2	354	0.0057	232	c.-22 others(249): Show c.-22-3518_-22-3517insAGGGAGGGGAGAGGAGAGGTGTTGAGGG AGGGGAGGGTAGAGGAGAGGTATTGAGGGAGGGGAGGGGAGAGGAGAGAT GTTGAGGGAGGGGAGGGGAGAGGAAAGGTGTTGAGGGAGGGGAGGGGAGA GGAGAGATATCGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGAGGGAGGGG AGGGGAGAGGAGAGGTGTTGAGGGAGGGGAGGGGAGAGGAGAGGTGTTGA GGGA	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar

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