Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ATP10A_chr15_25673712_25868327	25758725	C C	CCTAACTC others(165): Show CCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTG CTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGAC CACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCAT TCCGACCACCTGCTCCACCCTAA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0190 a0002c0002t0001g0190	1	300	0.0033	172	c.654 others(191): Show c.654+22293_654+22294insTTAGGGTGGAGCAGGTGGTCGGAATG AGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTC GGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAG GTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP8A2_chr13_25366974_26030851	25465737	T T	TTCTTTCT others(165): Show TTCTTTCTTTCTTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCTCTCTCTCTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCT TTCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0072 a0001c0001t0064g0072	1	122	0.0082	172	c.77- others(187): Show c.77-3238_77-3237insTTTCTTTCTTTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTCTCTCTCTCTCTCTCTTTCTCTCTTTCTC TCTTTCTCTCTTTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCCTCCCTC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
B4GALNT4_chr11_364499_387117	374688	G G	GAGGGGAG others(165): Show GAGGGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAG GAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGAGGAGGAAGGGAGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGG GAGGAGGAAGGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0026 a0003c0006t0001g0026	1	184	0.0054	172	c.784 others(187): Show c.784-769_784-768insGAGGAAGGGAGGGAGGAGGAAGGGAGGGAG GAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGA AGGGAGGGAGGAGGAAGGGAGGAGGAGGAAGGGAGGAGGAGGAAGGGAGG GAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	374772	A A	AGGGAGGA others(165): Show AGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGA GGGAGGGAGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGAGGAAGGGA GGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGA GGAGGAAGGGAGGGAGGGAGGAG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0154 a0002c0002t0001g0154	1	184	0.0054	172	c.784 others(187): Show c.784-687_784-686insGAGGAGGAAGGGAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGGAGG GAGGGAGGAGGAAGGGAGGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG GAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BEAN1_chr16_66422295_66487833	66474569	A A	AGAGGGAG others(165): Show AGAGGGAGGGAGGGAGGGAGGGAGAGAGGGAGGGAGGGAGGGAGGGAGAG AGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGAGAGGGAGGGAGGGAGGGAGGGAGAGAGGGAGGGAGGAAGGGAGGG AGGGAGGGAGAGAGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA18906.hp2 HG02572.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0033 a0001c0001t0004g0040 a0001c0001t0001g0033 a0001c0001t0004g0040	2	298	0.0067	172	c.290 others(189): Show c.290-2980_290-2979insGGAGGGAGGGAGAGAGGGAGGGAGGGAG GGAGGGAGAGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGGAGGGAGAGAGGGAGGGAGGGAGGGAGGGAGAGAGGGAGGGAG GAAGGGAGGGAGGGAGGGAGAGAGGGAGGGAGGGAGGGAGGGAG	BEAN1	ENSG00000166546.15	transcript	ENST00000536005.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
BFSP2_chr3_133395056_133480208	133425958	A A	AAGTGGAG others(165): Show AAGTGGAGGGGAGGAGGGAGGGGAGGGGGGAGGGGGGAGGGGAGGGGGGA GGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAG GGGGAGGGGGGAGGGGAGGGGAAAGGGGGAGGGGAGGGGAAGGGGATGGG GAGGGGAAGGGGAGGAGGGGAAG	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0064 a0001c0002t0001g0064	1	276	0.0036	172	c.490 others(191): Show c.490-21359_490-21358insAGTGGAGGGGAGGAGGGAGGGGAGGG GGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGAAGGGGAGGGGAAGGGGA GGGGAAGGGGAGGGGAAGGGGAGGGGGAGGGGGGAGGGGAGGGGAAAGGG GGAGGGGAGGGGAAGGGGATGGGGAGGGGAAGGGGAGGAGGGGAAG	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6			chr3	TogoVar
BFSP2_chr3_133395056_133480208	133425980	G G	GAGGGGGA others(165): Show GAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGAAGGG GAGGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGGAGGGGAGGGGAAGGGG AGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGGAGGGGAG GGGAGGGGAGGGGAAGGCAGGGC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0049 a0001c0002t0001g0049	1	276	0.0036	172	c.490 others(191): Show c.490-21336_490-21335insGGGGGAGGGGGAGGGGAGGGGGAGGG GAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGG AGGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAGGGGAA GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAAGGCAGGGCA	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113236266	G G	GTATATAT others(165): Show GTATATATACCCATGGGTATATATATATATATATATATATATACCCATGG GTATATATATATATATATATATATATATACCCATGGGTATATATATATAT ATATATATATATATACCCATGGGTATATATATATATATATATATATATAC CCATGGGTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18989.hp1 NA18979.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0016 a0001c0001t0018g0160 a0001c0001t0001g0016 a0001c0001t0018g0160	2	386	0.0052	172	c.-81 others(191): Show c.-81-13414_-81-13413insCCCATGGGTATATATATATATATATA TATATATATACCCATGGGTATATATATATATATATATATATATATACCCA TGGGTATATATATATATATATATATATATACCCATGGGTATATATATATA TATATATATATACCCATGGGTATATATATATATATATATATATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113236266	G G	GTATATAT others(165): Show GTATATATACCCATGGGTATATATATATATATATATATATATACCCATGG GTATATATATATATATATATATATATATATACCCATGGGTATATATATAT ATATATATATATATATACCCATGGGTATATATATATATATATATATATAC CCATGGGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0092 a0001c0001t0007g0092	1	386	0.0026	172	c.-81 others(191): Show c.-81-13414_-81-13413insCCCATGGGTATATATATATATATATA TATATATATATACCCATGGGTATATATATATATATATATATATATATACC CATGGGTATATATATATATATATATATATACCCATGGGTATATATATATA TATATATATATACCCATGGGTATATATATATATATATATATATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113236282	G G	GTATATAT others(165): Show GTATATATATATATATATATATATATACCCATGGGTATATATATATATAT ATATATATATATACCCATGGGTATATATATATATATATATATATATATAC CCATGGGTATATATATATATATATATATATACCCATGGGTATATATATAT ATATATATATATACCCATGGGTA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	386	0.0026	172	c.-81 others(191): Show c.-81-13414_-81-13413insCCCATGGGTATATATATATATATATA TATATATATACCCATGGGTATATATATATATATATATATATATATACCCA TGGGTATATATATATATATATATATATACCCATGGGTATATATATATATA TATATATATACCCATGGGTATATATATATATATATATATATATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BOC_chr3_113206557_113292459	113236288	A A	ATATATAT others(165): Show ATATATATATATATATATATATACCCATGGGTATATATATATATATATAT ATATACCCATGGGTATATATATATATATATATATACCCATGGGTATATAT ATATATATATATATATATATACCCATGGGTATATATATATATATATATAT ATATATATATATATACCCATGGG	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0348 a0001c0003t0003g0348	1	386	0.0026	172	c.-81 others(191): Show c.-81-13412_-81-13411insCCCATGGGTATATATATATATATATA TATATACCCATGGGTATATATATATATATATATATACCCATGGGTATATA TATATATATATATATATATATACCCATGGGTATATATATATATATATATA TATATATATATATATACCCATGGGTATATATATATATATATATATA	BOC	ENSG00000144857.15	transcript	ENST00000682979.1	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
BTBD19_chr1_44803523_44820585	44816932	G G	GTGTGTGT others(165): Show GTGTGTGTATATTATATATACACATAGATGTGTGTGTATATTATATATAC ACATAGATGTGTGTGTATATTATATATACACATAGATGTGTGTGTATATT ATATATACACATAGATGTGTGTGTATATTATATATACACATAGATGTGTG TGTATATTATATATACACATAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0026 a0001c0001t0004g0026	1	436	0.0023	172	c.31 others(183): Show c.3160_*3161insTGTGTGTATATTATATATACACATAGATGTGTGT GTATATTATATATACACATAGATGTGTGTGTATATTATATATACACATAG ATGTGTGTGTATATTATATATACACATAGATGTGTGTGTATATTATATAT ACACATAGATGTGTGTGTATATTATATATACACATAGA	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding		1348		chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1240648	T T	TCATTCAC others(165): Show TCATTCACCCCGGCCGTGGTCCCTGCCCCAGCCCCCGCCGCCCCCATTCA CCCCGGCCGTGGTCCCTGCCGCAGCCCCCACCGCCCCCATTCACCCCGGC CGTGGTCCCTGCCCCAGCCCCCGCCGCCCCCATTCACCCCGGCCGTGGTC CCTGCCCCAGCCCCCGCCGCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0001 a0010c0016t0001	a0010c0016t0001g0071 a0010c0016t0001g0071	1	328	0.0031	172	c.18 others(183): Show c.1899_*1900insGGGGCGGCGGGGGCTGGGGCAGGGACCACGGCCG GGGTGAATGGGGGCGGCGGGGGCTGGGGCAGGGACCACGGCCGGGGTGAA TGGGGGCGGTGGGGGCTGCGGCAGGGACCACGGCCGGGGTGAATGGGGGC GGCGGGGGCTGGGGCAGGGACCACGGCCGGGGTGAATG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		1804		chr1	TogoVar
C2orf16_chr2_27532386_27587722	27539791	G G	GTCCTCAC others(165): Show GTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACAGGGCAGCTGGCCGACCCCCCCCCCCCCCCGCCTCCCTCCCGGACGG GGCGGCTGGCCGGGCAGAGGGGC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01167.hp1 HG03195.hp2 others(1): Show HG00733.hp2 HG01167.hp1 HG03195.hp2 NA19240.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0003 a0002c0006t0001 a0002c0006t0003	a0002c0006t0001g0020 a0002c0006t0001g0021 a0002c0006t0003g0022 others(1): Show a0002c0006t0001g0020 a0002c0006t0001g0021 a0002c0006t0003g0022 a0002c0006t0003g0023	4	326	0.0123	172	c.144 others(189): Show c.144+2274_144+2275insGGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACAGGGCAGCTGGCCGACCCCCCCCCCCCCC CGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf16_chr2_27532386_27587722	27539826	C C	CGCCCCTC others(165): Show CGCCCCTCACCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCCCCCCCGC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0002 a0006c0005t0002	a0006c0005t0002g0014 a0006c0005t0002g0014	1	326	0.0031	172	c.144 others(189): Show c.144+2274_144+2275insGGGGCGGCCGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGACCCCCCCCCCCCCC CGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGAC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
CACNA1A_chr19_13201442_13511479	13221234	C C	CTTTCTTT others(165): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTCTTT CTTTCTTTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTTTCTTTCTTTC TTTCTTTCTTTCTTTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0071 a0001c0071	a0001c0071t0013 a0001c0071t0013	a0001c0071t0013g0138 a0001c0071t0013g0138	1	218	0.0046	172	c.573 others(191): Show c.5731+3432_5731+3433insAGAAAGAAAAAGAAAGAAAGAAAGAA AGAAAGAAAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAAGAAA GAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CADM1_chr11_115164236_115509415	115328703	T T	TATATACA others(165): Show TATATACATATATACGCGTATATATATGTATATACATATATATACGCGTA TATATATGTATACACATATATACGCGTATATATATGTATACACATATATA CGCGTATATATATGTATATACATATATATACGCGTATATATATGTATATA TACGCGTATATATATGTATATAC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0100 a0001c0001t0021g0100	1	164	0.0061	172	c.125 others(191): Show c.125-88284_125-88283insGTATATACATATATATACGCGTATAT ATACATATATATACGCGTATATATATGTATATACATATATATACGCGTAT ATATGTGTATACATATATATACGCGTATATATGTGTATACATATATATAC GCGTATATATATGTATATACATATATATACGCGTATATATGTATAT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115328703	T T	TATATACA others(165): Show TATATACATATATACGCGTATATATATGTATATACATATATATACGCGTA TATATATGTATATACATATATACGCGTATATATATGTATACACATATATA CGCGTATATATATGTATATACATATATATACGCGTATATATATGTATATA TACGCGTATATATATGTATATAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	164	0.0061	172	c.125 others(191): Show c.125-88284_125-88283insGTATATACATATATATACGCGTATAT ATACATATATATACGCGTATATATATGTATATACATATATATACGCGTAT ATATGTGTATACATATATATACGCGTATATATGTATATACATATATATAC GCGTATATATATGTATATACATATATATACGCGTATATATGTATAT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CAPN11_chr6_44153820_44189401	44181966	T T	TACACACT others(165): Show TACACACTCACATACAGACACAACCACACCACACTCACACACACACATAC ACACTCACATACAGACACAACCACACCACACTCACACATACACACTCACA TACAGACACAACCACACCACACTCACACACACACACTCACATACAGACAC AACCACACCACACTCACACACAC	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	460	0.0022	172	c.193 others(189): Show c.1938+726_1938+727insTCACACATACACACTCACATACAGACAC AACCACACCACACTCACACACACACACTCACATACAGACACAACCACACC ACACTCACACACACACACACTCACATACAGACACAACCACACCACACTCA CACACACACATACACACTCACATACAGACACAACCACACCACAC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25459266	C C	CTTTCTTT others(165): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0003 a0003	a0003c0024 a0003c0024	a0003c0024t0008 a0003c0024t0008	a0003c0024t0008g0019 a0003c0024t0008g0019	1	186	0.0054	172	c.615 others(189): Show c.615-6604_615-6603insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CBFA2T3_chr16_88869858_88982207	88975112	G G	GCCACCCT others(165): Show GCCACCCTGGCCCTCTGCTCCTGACCTCCAGCCATGTCAGAGGTCCACCC TGACCCTCTGCTCCTGACCTGCAGCCATGTCAGAGGTCCACCCTGGCCCT CTGCTCCTGACCTGCAGCCATGTCAGAGGTCCACCCTGATCCTCTGCTCC ACATCTTTAGCCATGTCAGAGGT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0170 a0001c0001t0010g0170	1	284	0.0035	172	c.151 others(189): Show c.151+1544_151+1545insACCTCTGACATGGCTAAAGATGTGGAGC AGAGGATCAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAGCAGAGGGC CAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAGCAGAGGGTCAGGGTG GACCTCTGACATGGCTGGAGGTCAGGAGCAGAGGGCCAGGGTGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88975155	T T	TCCACCCT others(165): Show TCCACCCTGACCCTCTGCTCCTGACCTGCAGCCATGTCAGAGGTCCACCC TGGCCCTCTGCTCCTGACCTGCAGCCATGTCAGAGGTCCACCCTGATCCT CTGCTCCTGACCTGCAGCCATGTCAGAGGTCCACCCTGGCCCTCTGCTCC TGACCTGCAGCCATATCAAAGGG	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	284	0.0035	172	c.151 others(189): Show c.151+1501_151+1502insCCCTTTGATATGGCTGCAGGTCAGGAGC AGAGGGCCAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAGCAGAGGAT CAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAGCAGAGGGCCAGGGTG GACCTCTGACATGGCTGCAGGTCAGGAGCAGAGGGTCAGGGTGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88975168	T T	TCTGCTCC others(165): Show TCTGCTCCTGACCTGCAGCCATGTCAGAGGTCCACCCTGATCCTCTGCTC CTGACCTGCAGCCATGTCAGAGGTCCACCCTGGCCCTCTGCTCCTCACCT GCAGCCATATCAAAGGGCCACCCTGACCCTCTCTGCTCCACATCTTTAGC CATGTCAGAGGTCCACCCTGACC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	284	0.0035	172	c.151 others(189): Show c.151+1488_151+1489insGGTCAGGGTGGACCTCTGACATGGCTAA AGATGTGGAGCAGAGAGGGTCAGGGTGGCCCTTTGATATGGCTGCAGGTG AGGAGCAGAGGGCCAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAGCA GAGGATCAGGGTGGACCTCTGACATGGCTGCAGGTCAGGAGCAG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CCDC110_chr4_185440182_185476733	185471291	C C	CGGAGAGA others(165): Show CGGAGAGACTGGGCGGGACCTGTGGGGGCAGAGGAATGGGGCGGGGTCAA GGCTGAAGGCTGGGGCGGGGCAGAGGGATGGGGCGGGGCAGGGCTGAAGG CTGGGGCGGGGCGGAGGGAATTAGGAGGGGGCGGGGCTGAAGGCTGGGGC GGGGCGCAGCGATGGGATGGGGA	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18961.hp1 NA18949.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0277 a0001c0001t0001g0278	2	428	0.0047	172	c.11- others(185): Show c.11-243_11-242insTCCCCATCCCATCGCTGCGCCCCGCCCCAGCC TTCAGCCCCGCCCCCTCCTAATTCCCTCCGCCCCGCCCCAGCCTTCAGCC CTGCCCCGCCCCATCCCTCTGCCCCGCCCCAGCCTTCAGCCTTGACCCCG CCCCATTCCTCTGCCCCCACAGGTCCCGCCCAGTCTCTCC	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding	1/6			chr4	TogoVar
CCDC170_chr6_151489017_151626193	151499632	T T	TAAGTGGA others(165): Show TAAGTGGAATCATACTTTATTTAACTATTCTAGGCACGCTGTATAAGTGG AATCATACTGTATTTGACTCTTCTAGGCACGCTGTATAAGTGGAATCAGA GTGTATTTAACTATTCTAGCCATTCTGTGTAAGTGGAATCATGCTGTATT TGACTCTTCTAGGCACTCTGTGC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0209 a0002c0003t0001g0209	1	320	0.0031	172	c.57+ others(187): Show c.57+5459_57+5460insACTTTATTTAACTATTCTAGGCACGCTGTA TAAGTGGAATCATACTGTATTTGACTCTTCTAGGCACGCTGTATAAGTGG AATCAGAGTGTATTTAACTATTCTAGCCATTCTGTGTAAGTGGAATCATG CTGTATTTGACTCTTCTAGGCACTCTGTGCAAGTGGAATCAT	CCDC170	ENSG00000120262.10	transcript	ENST00000239374.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(165): Show CCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCC CCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCTCCTCCCACCACCCT CCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCC CTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0015 a0001c0005t0002g0015	1	410	0.0024	172	c.-22 others(183): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGGGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCN4_chr8_133186039_133236690	133213920	T T	TTAAATAT others(165): Show TTAAATATACTATACACTATATATAGTAGTTAAATATACTATACACTATA TATAGTAGTTATATATACTATATATACACTATATATAGTAGTTATATATA CTATATATACACTATATATAGTATATATACTATATATAACTATATATAGT AGTTATATATAGTATATATACAC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0335 a0001c0001t0001g0335	1	396	0.0025	172	c.349 others(187): Show c.349+779_349+780insAATATACTATACACTATATATAGTAGTTAA ATATACTATACACTATATATAGTAGTTATATATACTATATATACACTATA TATAGTAGTTATATATACTATATATACACTATATATAGTATATATACTAT ATATAACTATATATAGTAGTTATATATAGTATATATACACTA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CCR9_chr3_45881543_45908174	45890269	A A	ATATTTAT others(165): Show ATATTTATATAAATATATATATAACATATATATATATTTATATAAATATA TATATAACATATATATATATTTATATAAATATATATAACATATATATATT TATATAAATATATATATAACATATATATATTTATATAAATATATATATAA CATATATATATTTATATAAATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	424	0.0024	172	c.-29 others(189): Show c.-29+3614_-29+3615insTATTTATATAAATATATATATAACATAT ATATATATTTATATAAATATATATATAACATATATATATATTTATATAAA TATATATAACATATATATATTTATATAAATATATATATAACATATATATA TTTATATAAATATATATATAACATATATATATTTATATAAATAT	CCR9	ENSG00000173585.18	transcript	ENST00000357632.7	protein_coding	1/2			chr3	TogoVar
CCSER2_chr10_84323589_84523517	84501834	A A	AATATATA others(165): Show AATATATATATATATATATATATATATATATATATATATATATATATACT CATATATATATATATACTCATATATATATATATACTCATATATATATATA TTCATATATATATACTCATATATATATATATACTCATATATATATATATT CATATATATATATATATATATTC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0318 a0001c0001t0001g0318	1	370	0.0027	172	c.232 others(193): Show c.2326-11590_2326-11589insTATATATATATATATATATATACT CATATATATATATATACTCATATATATATATATACTCATATATATATATA TTCATATATATATACTCATATATATATATATACTCATATATATATATATT CATATATATATATATATATATTCATATATATATATATATATATATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATA others(165): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0008 a0002c0002t0002g0008	1	442	0.0023	172	c.27 others(183): Show c.2752_*2753insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATG others(165): Show CACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0078 a0002c0002t0002g0078	1	442	0.0023	172	c.27 others(183): Show c.2752_*2753insACATATGTGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CDC16_chr13_114229897_114277723	114231423	T T	TGGGGCTG others(165): Show TGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTG CTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCC ATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCATGTGGGTGG AGTGCCCATTGCTGCTGGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	380	0.0026	172	c.-36 others(183): Show c.-3662_-3661insGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTG GAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGT GGGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTT GGATCATGTGGGTGGAGTGCCCATTGCTGCTGGAGGTG	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding		3473		chr13	TogoVar
CEMIP2_chr9_71678366_71773513	71752481	G G	GGGGAGGG others(165): Show GGGGAGGGTAGGGGGAGGAGAGGGGGAGGGAGGGGGAGGGGAGGGGAGGG GAGGGGAGGGAGGGGAGGGAGGGAAGGGAGGGGAGAGAGGGAGAGAAGGA AGTAAGGAAGTTAGGAGGGAAGGGAGGAAGGAAGGAGGGAAGGGAGGAAG GAGGGAGGGAAGGAAGCAAGGAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00438.hp1 others(158): Show HG00140.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp1 NA18941.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18969.hp1 NA18970.hp1 NA18975.hp2 NA18981.hp1 NA18981.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19060.hp1 NA19063.hp2 NA19064.hp1 NA19068.hp1 NA19070.hp2 NA19079.hp1 NA19083.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA20129.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0006 a0009 a0011 a0015	a0001c0001 a0001c0009 a0001c0013 others(12): Show a0001c0001 a0001c0009 a0001c0013 a0001c0015 a0001c0026 a0001c0029 a0003c0005 a0003c0012 a0004c0003 a0006c0006 a0006c0021 a0006c0039 a0009c0016 a0011c0019 a0015c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(60): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0027 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0047 a0001c0001t0050 a0001c0001t0052 a0001c0001t0054 a0001c0009t0001 a0001c0009t0005 a0001c0009t0006 a0001c0013t0006 a0001c0013t0018 a0001c0015t0001 a0001c0015t0006 a0001c0026t0025 a0001c0029t0001 a0003c0005t0001 a0003c0005t0002 a0003c0005t0003 a0003c0005t0007 a0003c0005t0008 a0003c0005t0013 a0003c0005t0019 a0003c0005t0021 a0003c0005t0055 a0003c0005t0056 a0003c0012t0001 a0003c0012t0002 a0003c0012t0049 a0004c0003t0001 a0004c0003t0002 a0004c0003t0003 a0004c0003t0005 a0004c0003t0014 a0004c0003t0046 a0004c0003t0051 a0006c0006t0004 a0006c0006t0024 a0006c0006t0037 a0006c0021t0009 a0006c0039t0009 a0009c0016t0004 a0009c0016t0017 a0011c0019t0001 a0015c0030t0003	a0001c0001t0001g0106 a0001c0001t0001g0115 a0001c0001t0001g0143 others(158): Show a0001c0001t0001g0106 a0001c0001t0001g0115 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0001g0196 a0001c0001t0001g0205 a0001c0001t0001g0277 a0001c0001t0001g0288 a0001c0001t0001g0297 a0001c0001t0002g0109 a0001c0001t0002g0125 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0142 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0178 a0001c0001t0002g0182 a0001c0001t0002g0211 a0001c0001t0002g0294 a0001c0001t0002g0315 a0001c0001t0003g0028 a0001c0001t0003g0108 a0001c0001t0003g0130 a0001c0001t0003g0163 a0001c0001t0003g0177 a0001c0001t0003g0193 a0001c0001t0003g0202 a0001c0001t0003g0234 a0001c0001t0003g0287 a0001c0001t0005g0140 a0001c0001t0005g0216 a0001c0001t0005g0217 a0001c0001t0005g0228 a0001c0001t0006g0286 a0001c0001t0006g0290 a0001c0001t0006g0291 a0001c0001t0007g0094 a0001c0001t0007g0213 a0001c0001t0007g0221 a0001c0001t0008g0061 a0001c0001t0008g0225 a0001c0001t0010g0029 a0001c0001t0010g0132 a0001c0001t0012g0204 a0001c0001t0012g0220 a0001c0001t0012g0314 a0001c0001t0013g0222 a0001c0001t0013g0227 a0001c0001t0014g0149 a0001c0001t0018g0226 a0001c0001t0019g0136 a0001c0001t0019g0215 a0001c0001t0020g0062 a0001c0001t0021g0203 a0001c0001t0024g0218 a0001c0001t0027g0151 a0001c0001t0027g0201 a0001c0001t0039g0240 a0001c0001t0040g0033 a0001c0001t0041g0224 a0001c0001t0043g0040 a0001c0001t0047g0275 a0001c0001t0050g0107 a0001c0001t0052g0212 a0001c0001t0054g0084 a0001c0009t0001g0245 a0001c0009t0001g0250 a0001c0009t0005g0244 a0001c0009t0005g0246 a0001c0009t0005g0247 a0001c0009t0005g0248 a0001c0009t0005g0249 a0001c0009t0005g0252 a0001c0009t0006g0251 a0001c0013t0006g0032 a0001c0013t0018g0031 a0001c0015t0001g0176 a0001c0015t0006g0219 a0001c0026t0025g0223 a0001c0029t0001g0155 a0003c0005t0001g0102 a0003c0005t0001g0104 a0003c0005t0001g0112 a0003c0005t0001g0119 a0003c0005t0001g0126 a0003c0005t0001g0127 a0003c0005t0002g0124 a0003c0005t0003g0113 a0003c0005t0003g0121 a0003c0005t0007g0120 a0003c0005t0007g0123 a0003c0005t0008g0101 a0003c0005t0013g0098 a0003c0005t0013g0099 a0003c0005t0019g0100 a0003c0005t0021g0097 a0003c0005t0055g0105 a0003c0005t0056g0116 a0003c0012t0001g0110 a0003c0012t0001g0111 a0003c0012t0001g0117 a0003c0012t0001g0118 a0003c0012t0002g0070 a0003c0012t0049g0096 a0004c0003t0001g0122 a0004c0003t0001g0156 a0004c0003t0001g0167 a0004c0003t0001g0173 a0004c0003t0001g0186 a0004c0003t0001g0198 a0004c0003t0001g0208 a0004c0003t0001g0293 a0004c0003t0002g0152 a0004c0003t0002g0153 a0004c0003t0002g0171 a0004c0003t0002g0187 a0004c0003t0002g0207 a0004c0003t0003g0214 a0004c0003t0003g0299 a0004c0003t0005g0133 a0004c0003t0005g0185 a0004c0003t0005g0192 a0004c0003t0014g0030 a0004c0003t0014g0158 a0004c0003t0014g0179 a0004c0003t0046g0157 a0004c0003t0051g0210 a0006c0006t0004g0134 a0006c0006t0004g0141 a0006c0006t0004g0147 a0006c0006t0004g0160 a0006c0006t0004g0164 a0006c0006t0004g0184 a0006c0006t0004g0206 a0006c0006t0024g0289 a0006c0006t0037g0276 a0006c0021t0009g0306 a0006c0021t0009g0307 a0006c0039t0009g0090 a0009c0016t0004g0135 a0009c0016t0004g0181 a0009c0016t0017g0195 a0011c0019t0001g0183 a0011c0019t0001g0188 a0015c0030t0003g0114	161	320	0.5031	172	c.-12 others(189): Show c.-12-2097_-12-2096insTTCCTTGCTTCCTTCCCTCCCTCCTTCC TCCCTTCCCTCCTTCCTTCCTCCCTTCCCTCCTAACTTCCTTACTTCCTT CTCTCCCTCTCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCCTC CCCTCCCCTCCCCCTCCCTCCCCCTCTCCTCCCCCTACCCTCCC	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	1/23			chr9	TogoVar
CERK_chr22_46679410_46743252	46680586	C C	CCACCCAC others(165): Show CCACCCACCCACCCACCCATTCATCCATCCATCCGTCCTTCCATCCATCC ATCCACCCACCCATCCACCCATTCATCCATCCATCCACCTACCCACCCAT CCATCCATCCATCAATCCATCCGTCCATCCATCCATCCACCCATCCATCC ATACATCCACCCACCCACCCATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01109.hp1 HG01361.hp2 others(25): Show HG00280.hp1 HG01109.hp1 HG01361.hp2 HG01496.hp2 HG01891.hp1 HG01934.hp2 HG01952.hp1 HG01993.hp2 HG02451.hp1 HG02622.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03225.hp2 HG03516.hp1 HG03516.hp2 HG03688.hp1 NA18906.hp1 NA18906.hp2 NA19043.hp2 NA20300.hp1 NA20905.hp1	a0001 a0010 a0014 a0001 a0010 a0014	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0001c0013 a0010c0027 a0014c0020	a0001c0001t0008 a0001c0001t0011 a0001c0001t0018 others(10): Show a0001c0001t0008 a0001c0001t0011 a0001c0001t0018 a0001c0001t0042 a0001c0001t0063 a0001c0003t0011 a0001c0003t0057 a0001c0004t0018 a0001c0007t0008 a0001c0007t0011 a0001c0013t0008 a0010c0027t0011 a0014c0020t0011	a0001c0001t0008g0026 a0001c0001t0008g0034 a0001c0001t0008g0035 others(25): Show a0001c0001t0008g0026 a0001c0001t0008g0034 a0001c0001t0008g0035 a0001c0001t0008g0036 a0001c0001t0008g0037 a0001c0001t0008g0043 a0001c0001t0008g0049 a0001c0001t0008g0050 a0001c0001t0011g0214 a0001c0001t0011g0222 a0001c0001t0011g0278 a0001c0001t0018g0302 a0001c0001t0018g0311 a0001c0001t0018g0313 a0001c0001t0018g0324 a0001c0001t0042g0131 a0001c0001t0063g0319 a0001c0003t0011g0193 a0001c0003t0011g0205 a0001c0003t0057g0265 a0001c0004t0018g0326 a0001c0007t0008g0038 a0001c0007t0011g0209 a0001c0013t0008g0153 a0001c0013t0008g0154 a0001c0013t0008g0156 a0010c0027t0011g0272 a0014c0020t0011g0170	28	340	0.0824	172	c.65 others(183): Show c.6547_*6548insAATGGGTGGGTGGGTGGATGTATGGATGGATGGG TGGATGGATGGATGGACGGATGGATTGATGGATGGATGGATGGGTGGGTA GGTGGATGGATGGATGAATGGGTGGATGGGTGGGTGGATGGATGGATGGA AGGACGGATGGATGGATGAATGGGTGGGTGGGTGGGTG	CERK	ENSG00000100422.14	transcript	ENST00000216264.13	protein_coding		3823		chr22	TogoVar
CERK_chr22_46679410_46743252	46680586	C C	CCACCCAC others(165): Show CCACCCACCCACCCACCCATTCATCCATCCATCCGTCCTTCCATCCATCC ATCCACCCACCCATCCACCCATTCATCCATCCATCCACCTACCCACCCAT CCATCCATCCATCAATCCATCCGTCCATCCATCCATCCACCCATCCATCC ATCCATCCACCCACCCACCCATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00408.hp2 others(168): Show HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02280.hp2 HG02486.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18946.hp2 NA18948.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18961.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp2 NA18982.hp2 NA18990.hp1 NA18990.hp2 NA18998.hp1 NA19004.hp1 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19062.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0006 a0008 a0009 a0013	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0012 a0001c0033 a0001c0035 a0003c0011 a0004c0014 a0006c0016 a0008c0023 a0009c0030 a0013c0037	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(47): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0013 a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 a0001c0001t0028 a0001c0001t0032 a0001c0001t0037 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0059 a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 a0001c0002t0035 a0001c0002t0036 a0001c0002t0053 a0001c0002t0054 a0001c0003t0002 a0001c0003t0003 a0001c0003t0030 a0001c0004t0017 a0001c0004t0020 a0001c0004t0025 a0001c0005t0003 a0001c0005t0021 a0001c0005t0029 a0001c0007t0016 a0001c0008t0005 a0001c0008t0006 a0001c0009t0020 a0001c0009t0047 a0001c0010t0061 a0001c0012t0002 a0001c0033t0002 a0001c0035t0009 a0003c0011t0006 a0004c0014t0003 a0006c0016t0006 a0006c0016t0013 a0008c0023t0001 a0009c0030t0016 a0013c0037t0002	a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0001g0021 others(165): Show a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0146 a0001c0001t0002g0178 a0001c0001t0002g0182 a0001c0001t0002g0189 a0001c0001t0002g0217 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0002g0258 a0001c0001t0002g0270 a0001c0001t0002g0285 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0016 a0001c0001t0003g0039 a0001c0001t0003g0073 a0001c0001t0003g0096 a0001c0001t0003g0100 a0001c0001t0003g0107 a0001c0001t0003g0112 a0001c0001t0003g0124 a0001c0001t0003g0126 a0001c0001t0003g0143 a0001c0001t0003g0145 a0001c0001t0004g0071 a0001c0001t0004g0108 a0001c0001t0005g0051 a0001c0001t0006g0230 a0001c0001t0006g0238 a0001c0001t0006g0266 a0001c0001t0009g0299 a0001c0001t0009g0300 a0001c0001t0009g0301 a0001c0001t0009g0312 a0001c0001t0009g0325 a0001c0001t0009g0329 a0001c0001t0013g0303 a0001c0001t0013g0308 a0001c0001t0013g0309 a0001c0001t0013g0317 a0001c0001t0013g0318 a0001c0001t0013g0320 a0001c0001t0013g0321 a0001c0001t0013g0328 a0001c0001t0019g0022 a0001c0001t0019g0023 a0001c0001t0019g0024 a0001c0001t0022g0004 a0001c0001t0022g0066 a0001c0001t0024g0045 a0001c0001t0024g0054 a0001c0001t0024g0140 a0001c0001t0028g0088 a0001c0001t0028g0089 a0001c0001t0032g0008 a0001c0001t0037g0119 a0001c0001t0049g0169 a0001c0001t0050g0232 a0001c0001t0051g0255 a0001c0001t0059g0225 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0060 a0001c0002t0001g0063 a0001c0002t0001g0068 a0001c0002t0001g0074 a0001c0002t0001g0081 a0001c0002t0001g0085 a0001c0002t0001g0094 a0001c0002t0001g0106 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0002g0174 a0001c0002t0002g0179 a0001c0002t0002g0181 a0001c0002t0002g0213 a0001c0002t0002g0216 a0001c0002t0002g0219 a0001c0002t0002g0223 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0242 a0001c0002t0002g0248 a0001c0002t0002g0251 a0001c0002t0002g0253 a0001c0002t0002g0256 a0001c0002t0009g0298 a0001c0002t0009g0310 a0001c0002t0009g0314 a0001c0002t0009g0316 a0001c0002t0009g0327 a0001c0002t0035g0042 a0001c0002t0036g0070 a0001c0002t0053g0240 a0001c0002t0054g0177 a0001c0003t0002g0172 a0001c0003t0002g0180 a0001c0003t0003g0027 a0001c0003t0003g0033 a0001c0003t0003g0129 a0001c0003t0030g0185 a0001c0004t0017g0212 a0001c0004t0017g0228 a0001c0004t0017g0229 a0001c0004t0017g0260 a0001c0004t0020g0041 a0001c0004t0025g0132 a0001c0004t0025g0138 a0001c0005t0003g0157 a0001c0005t0003g0159 a0001c0005t0003g0167 a0001c0005t0003g0168 a0001c0005t0021g0006 a0001c0005t0029g0295 a0001c0005t0029g0296 a0001c0007t0016g0201 a0001c0007t0016g0202 a0001c0007t0016g0203 a0001c0007t0016g0259 a0001c0008t0005g0151 a0001c0008t0006g0273 a0001c0008t0006g0277 a0001c0009t0020g0158 a0001c0009t0020g0162 a0001c0009t0020g0163 a0001c0009t0047g0164 a0001c0010t0061g0197 a0001c0012t0002g0211 a0001c0033t0002g0244 a0001c0035t0009g0323 a0003c0011t0006g0290 a0003c0011t0006g0293 a0004c0014t0003g0010 a0006c0016t0006g0280 a0006c0016t0013g0306 a0008c0023t0001g0072 a0009c0030t0016g0187 a0013c0037t0002g0171	171	340	0.5029	172	c.65 others(183): Show c.6547_*6548insAATGGGTGGGTGGGTGGATGGATGGATGGATGGG TGGATGGATGGATGGACGGATGGATTGATGGATGGATGGATGGGTGGGTA GGTGGATGGATGGATGAATGGGTGGATGGGTGGGTGGATGGATGGATGGA AGGACGGATGGATGGATGAATGGGTGGGTGGGTGGGTG	CERK	ENSG00000100422.14	transcript	ENST00000216264.13	protein_coding		3823		chr22	TogoVar
CERK_chr22_46679410_46743252	46680586	C C	CCACCCAC others(165): Show CCACCCACCCACCCACCCATTCATCCATCCATCCGTCCTTCCATCCATCC ATCCACCCACCCATCCACCCATTCATCCATCCATCCACCTACCCACCCAT CCATCCATCCATCAATCCATCCGTCCATCCATCCATCCAGCCATCCATCC ATCCATCCACCCACCCACCCATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG03139.hp1 HG02559.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0274 a0001c0001t0006g0281 a0001c0001t0006g0274 a0001c0001t0006g0281	2	340	0.0059	172	c.65 others(183): Show c.6547_*6548insAATGGGTGGGTGGGTGGATGGATGGATGGATGGC TGGATGGATGGATGGACGGATGGATTGATGGATGGATGGATGGGTGGGTA GGTGGATGGATGGATGAATGGGTGGATGGGTGGGTGGATGGATGGATGGA AGGACGGATGGATGGATGAATGGGTGGGTGGGTGGGTG	CERK	ENSG00000100422.14	transcript	ENST00000216264.13	protein_coding		3823		chr22	TogoVar
CERK_chr22_46679410_46743252	46680586	C C	CCACCCAC others(165): Show CCACCCACCCACCCACCCATTCATCCATCCATCCGTCCTTCCATCCATCC ATCCACCCACCCATCCACCCATTCATCCATCCATCCACCTACTCACCCAT CCATCCATCCATCAATCCATCCGTCCATCCATCCATCCACCCATCCATCC ATCCATCCACCCACCCACCCATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02970.hp1 HG02896.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0006 a0001c0012t0026 a0001c0001t0006 a0001c0012t0026	a0001c0001t0006g0288 a0001c0012t0026g0208 a0001c0001t0006g0288 a0001c0012t0026g0208	2	340	0.0059	172	c.65 others(183): Show c.6547_*6548insAATGGGTGGGTGGGTGGATGGATGGATGGATGGG TGGATGGATGGATGGACGGATGGATTGATGGATGGATGGATGGGTGAGTA GGTGGATGGATGGATGAATGGGTGGATGGGTGGGTGGATGGATGGATGGA AGGACGGATGGATGGATGAATGGGTGGGTGGGTGGGTG	CERK	ENSG00000100422.14	transcript	ENST00000216264.13	protein_coding		3823		chr22	TogoVar
CHEK2_chr22_28682743_28746820	28730264	G G	GAGGAGAG others(165): Show GAGGAGAGGAGAGGAGGGGAGGGGAGGGGAGGGGAGGAGAGGAGGGGAGG GGAGGGGAGGAGGGGAGGGGAGGGGAGGAGGGGAGGGGGGGAGAGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAGGGGAGAGAAGAGGA GAGGAGAAGAGAGTGGAAGGGAA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	384	0.0026	172	c.319 others(189): Show c.319+4138_319+4139insTTCCCTTCCACTCTCTTCTCCTCTCCTC TTCTCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CTCTCCCCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCC CCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCTCTCCT	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	2/14			chr22	TogoVar
CHEK2_chr22_28682743_28746820	28730264	G G	GAGGGGAG others(165): Show GAGGGGAGGAGAGGAGAGGAGGGGAGGGGAGGGGAGGGGAGGAGAGGAGG GGAGGGGAGGGGAGGAGAGGAGGGGAGGGGAGGGGAGGAGGGGAGGGGGG GAGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAGGGGAGAGAAGAGGA GAGGAGAAGAGAGTGGAAGGGAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	384	0.0026	172	c.319 others(189): Show c.319+4138_319+4139insTTCCCTTCCACTCTCTTCTCCTCTCCTC TTCTCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCCCCC CTCCCCTCCTCCCCTCCCCTCCCCTCCTCTCCTCCCCTCCCCTCCCCTCC TCTCCTCCCCTCCCCTCCCCTCCCCTCCTCTCCTCTCCTCCCCT	CHEK2	ENSG00000183765.24	transcript	ENST00000404276.6	protein_coding	2/14			chr22	TogoVar
CHM_chrX_85856180_86052558	85911164	T T	TATATATA others(165): Show TATATATATATATATATATATGTATATATATATATGAATATATATATATG AATATATATATGAATATATATATGAATATATATATGAATATATATATGAA TATATATATGAATATATATATGAATATATATATGAATATATATATGAATA TATATATATGAATATATATATGA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	245	0.0041	172	c.124 others(187): Show c.1244+96_1244+97insTCATATATATATTCATATATATATATTCAT ATATATATTCATATATATATTCATATATATATTCATATATATATTCATAT ATATATTCATATATATATTCATATATATATTCATATATATATTCATATAT ATATATTCATATATATATATACATATATATATATATATATAT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
CHN2_chr7_29189775_29519328	29454909	T T	TGCTTTTT others(165): Show TGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGAAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTAC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0050 a0001c0001t0028g0050	1	232	0.0043	172	c.577 others(191): Show c.577-25364_577-25363insTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGAAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCTTTT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COA1_chr7_43634257_43734523	43730958	T T	TTCGTCTA others(165): Show TTCGTCTAAATTTTACATTAAAAACAAAACTCTATAGTGAATAATGTTAC CTATCCAATATTCATTTTCCTCTAACTCCTTTGTACCAAAATCCTTATTT TATTCAGATAGCTGCCCTGTTCCCAGAATCAAAATGATACTGATTAAACC AGTCATCACACAGAATTTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00544.hp2 others(25): Show HG00280.hp1 HG00438.hp1 HG00544.hp2 HG00733.hp1 HG00741.hp1 HG01109.hp2 HG01123.hp2 HG01261.hp1 HG01975.hp1 HG02004.hp1 HG02109.hp1 HG02293.hp2 HG02976.hp2 HG04228.hp2 NA18522.hp1 NA18747.hp2 NA18946.hp1 NA18948.hp2 NA18957.hp1 NA18971.hp2 NA18973.hp2 NA18985.hp2 NA19011.hp1 NA19054.hp1 NA19056.hp2 NA19086.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 others(25): Show a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0276 a0001c0001t0001g0357	28	384	0.0729	172	c.-15 others(183): Show c.-1569_-1568insCAAAAAAATTCTGTGTGATGACTGGTTTAATCAG TATCATTTTGATTCTGGGAACAGGGCAGCTATCTGAATAAAATAAGGATT TTGGTACAAAGGAGTTAGAGGAAAATGAATATTGGATAGGTAACATTATT CACTATAGAGTTTTGTTTTTAATGTAAAATTTAGACGA	COA1	ENSG00000106603.20	transcript	ENST00000223336.11	protein_coding		1436		chr7	TogoVar
COL18A1_chr21_45400165_45518720	45501652	C C	CCTCCACA others(165): Show CCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCAC AGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGT CACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCC CTCTACAGAAGGACCCCCAGGGG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0004 a0004	a0004c0100 a0004c0100	a0004c0100t0001 a0004c0100t0001	a0004c0100t0001g0039 a0004c0100t0001g0039	1	292	0.0034	172	c.268 others(191): Show c.2684-2323_2684-2322insTCAGGGGCTCCACAGCCGGTCACCTC CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC AGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTCCCTCTACAGAAGGA CCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501689	C C	CCAGGGGC others(165): Show CCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGG CTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAA GCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTC ACCTCCCTCTGCAGAAGGACCCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0023 a0001c0002t0002g0023	1	292	0.0034	172	c.268 others(191): Show c.2684-2228_2684-2227insTCAAAGCCGGTCACCTCCCTCTGCAG AAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACC CTCAGGGGCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGG GCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCT	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501787	C C	CAGCCGGT others(165): Show CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGG TCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGCCGGTCACCTC CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCCCTCTGC AGAAGGACCCCCAGGGGCTTCAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0080 a0001c0080	a0001c0080t0004 a0001c0080t0004	a0001c0080t0004g0057 a0001c0080t0004g0057	1	292	0.0034	172	c.268 others(191): Show c.2684-2211_2684-2210insCCTCTGCAGAAGGACCCCCAGGGGCT CCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCTCAGGGGCTCCACAGC CGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCAC CTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAAAGCCGGTCACCTC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL4A3_chr2_227159624_227319792	227203763	A A	ATGTGTAT others(165): Show ATGTGTATATATACATATATGTGTGTATATATGTGTATATATACATATAT GTGTGTATATATGTGTATATATACATATATGTGTGTATATATGTGTATAT ATACATATATGTGTGTATATATGTGTATATATACATATATGTGTGTATAT ATGTGTATATATACATATATGTG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0042 a0003c0002t0001g0042	1	344	0.0029	172	c.88- others(189): Show c.88-34174_88-34173insGTGTATATATACATATATGTGTGTATAT ATGTGTATATATACATATATGTGTGTATATATGTGTATATATACATATAT GTGTGTATATATGTGTATATATACATATATGTGTGTATATATGTGTATAT ATACATATATGTGTGTGTATATATACATATATGTGTGTATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COLEC12_chr18_311737_505701	442004	C C	CACACACA others(165): Show CACACACACACACACACACACACACACACACACACACACAGCTTCTGATG ACTGTCAGTGGGGACTGAGTGAGACTCTCTCTCTCTACACACACACACAC ACACACACACACACACACACACACACAGCTTCTGATGACTGTCAGTGGGG ACTGAGTGAGACTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0209 a0003c0002t0209	a0003c0002t0209g0120 a0003c0002t0209g0120	1	366	0.0027	172	c.58+ others(189): Show c.58+38702_58+38703insAGAGAGAGAGAGTCTCACTCAGTCCCCA CTGACAGTCATCAGAAGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTAGAGAGAGAGAGTCTCACTCAGTCCCCACTGACAGTCATCA GAAGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	2/9			chr18	TogoVar
CPEB4_chr5_173883349_173966980	173964587	G G	GTGGGGTG others(165): Show GTGGGGTGGGGTGAGGGTGGGGTGGGGTGAGGGTGAGGGTTGGGGTGGGG TGGGGTGAGGGTGGGGTGAGGGTGGGGTGGGGTGAGGGTGAGGGTGGGGT GAGGGTGAGGGTTGGGGTGGGGTGGGGTGAGGGTGGGGTGGGGTGAGGGT GAGGGTGGGGTGAGGGTGAGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02572.hp1 HG02717.hp1 others(3): Show HG01884.hp1 HG02572.hp1 HG02717.hp1 HG03209.hp1 HG03540.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0038 a0001c0001t0005g0192 a0001c0001t0005g0201 others(3): Show a0001c0001t0005g0038 a0001c0001t0005g0192 a0001c0001t0005g0201 a0001c0001t0005g0202 a0001c0001t0005g0203 a0001c0001t0005g0204	6	372	0.0161	172	c.84 others(183): Show c.8450_*8451insTGGGGTGGGGTGAGGGTGGGGTGGGGTGAGGGTG AGGGTTGGGGTGGGGTGGGGTGAGGGTGGGGTGAGGGTGGGGTGGGGTGA GGGTGAGGGTGGGGTGAGGGTGAGGGTTGGGGTGGGGTGGGGTGAGGGTG GGGTGGGGTGAGGGTGAGGGTGGGGTGAGGGTGAGGGT	CPEB4	ENSG00000113742.14	transcript	ENST00000265085.10	protein_coding		2608		chr5	TogoVar
CREB3L2_chr7_137869979_138007086	137946876	T T	TTATATAT others(165): Show TTATATATATAGTTATATATATATAGTTATATATATAGTTATATATATAT AGTTATATATATAGTTATATATATATAGTTATATATATAGTTATATATAT ATATAGTTATATATATAGTTATATATATATAGTTATATATATAGTTATAT ATATATAGTTATATATATAGTTA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0173 a0001c0004t0008g0173	1	288	0.0035	172	c.103 others(191): Show c.103-18511_103-18510insTAACTATATATATAACTATATATATA TAACTATATATATAACTATATATATATAACTATATATATAACTATATATA TATATAACTATATATATAACTATATATATATAACTATATATATAACTATA TATATATAACTATATATATAACTATATATATATAACTATATATATA	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	1/11			chr7	TogoVar
CRISP2_chr6_49687359_49718543	49701674	A A	ATATGTAT others(165): Show ATATGTATACATTATATATGTATACATTATATATGTATACATTATATATG TATACATTATATATGTATACATTATATATGTATACATTATATATGTATAC ATTATATATGTATACATTATATATGTATACATTATATATGTATACATTAT GTATACATTATATATGTATACAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	410	0.0024	172	c.67- others(185): Show c.67-891_67-890insATGTATACATATATAATGTATACATAATGTAT ACATATATAATGTATACATATATAATGTATACATATATAATGTATACATA TATAATGTATACATATATAATGTATACATATATAATGTATACATATATAA TGTATACATATATAATGTATACATATATAATGTATACATA	CRISP2	ENSG00000124490.14	transcript	ENST00000339139.5	protein_coding	4/9			chr6	TogoVar

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