Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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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
CFAP99_chr4_2413955_2468002	2466647	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01074.hp1 HG01109.hp2 others(34): Show HG00280.hp1 HG01074.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01261.hp2 HG01496.hp1 HG01934.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02523.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02922.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03669.hp1 HG04199.hp1 NA18522.hp1 NA18964.hp1 NA18971.hp1 NA18984.hp1 NA18997.hp2 NA19009.hp2 NA19066.hp1 NA19070.hp1 NA20805.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0007 a0016	a0001c0002 a0001c0003 a0001c0004 others(8): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0018 a0002c0001 a0003c0007 a0003c0016 a0005c0009 a0007c0014 a0016c0036	a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 others(9): Show a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 a0001c0018t0001 a0002c0001t0001 a0003c0007t0001 a0003c0016t0001 a0005c0009t0001 a0007c0014t0001 a0016c0036t0002	a0001c0002t0001g0004 a0001c0002t0001g0095 a0001c0002t0001g0096 others(33): Show a0001c0002t0001g0004 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0310 a0001c0003t0001g0004 a0001c0003t0001g0010 a0001c0003t0001g0025 a0001c0003t0001g0026 a0001c0003t0001g0054 a0001c0003t0001g0081 a0001c0003t0001g0110 a0001c0003t0001g0119 a0001c0003t0001g0120 a0001c0003t0001g0121 a0001c0003t0001g0129 a0001c0003t0001g0183 a0001c0003t0001g0184 a0001c0003t0001g0293 a0001c0004t0001g0086 a0001c0004t0001g0198 a0001c0004t0001g0202 a0001c0004t0001g0203 a0001c0004t0002g0043 a0001c0006t0001g0128 a0001c0018t0001g0130 a0002c0001t0001g0001 a0002c0001t0001g0008 a0002c0001t0001g0282 a0003c0007t0001g0052 a0003c0007t0001g0065 a0003c0007t0001g0268 a0003c0016t0001g0068 a0005c0009t0001g0156 a0005c0009t0001g0158 a0007c0014t0001g0113 a0016c0036t0002g0035	37	350	0.1057	30	c.37 others(41): Show c.3721_*3722insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	CFAP99	ENSG00000206113.12	transcript	ENST00000635017.2	protein_coding		3646		chr4	TogoVar
CFDP1_chr16_75288710_75438503	75349682	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	314	0.0032	30	c.651 others(49): Show c.651-44501_651-44500insATATATATATATATATATATATATAT ATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349686	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA19000.hp1 NA18942.hp2 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0060 a0001c0002t0001g0073 a0001c0002t0001g0060 a0001c0002t0001g0073	2	314	0.0064	30	c.651 others(49): Show c.651-44505_651-44504insATATATATATATATATATATATATAT ATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349698	T T	TATATATA others(23): Show TATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	314	0.0032	30	c.651 others(49): Show c.651-44517_651-44516insGTGTGTATATATATATATATATATAT ATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349698	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	314	0.0032	30	c.651 others(49): Show c.651-44517_651-44516insGTGTATATATATATATATATATATAT ATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349698	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	314	0.0032	30	c.651 others(49): Show c.651-44517_651-44516insGTATATATATATATATATATATATAT ATAT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFHR2_chr1_196938738_196964622	196956797	T T	TTAATATG others(23): Show TTAATATGAAGAGTAATTTTTAAATTTATTC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	370	0.0027	30	c.431 others(47): Show c.431-1091_431-1062dupATATGAAGAGTAATTTTTAAATTTATTC TA	CFHR2	ENSG00000080910.14	transcript	ENST00000367415.8	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFHR3_chr1_196769840_196800407	196772694	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0005 a0002c0001t0002g0005	1	261	0.0038	30	c.-21 others(41): Show c.-2193_-2192insTATATATATATATATATATATATATATATA	CFHR3	ENSG00000116785.15	transcript	ENST00000367425.9	protein_coding		2145		chr1	TogoVar
CFHR5_chr1_196972556_197014678	196999682	A A	AGTATATA others(23): Show AGTATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0095 a0001c0001t0003g0095	1	356	0.0028	30	c.114 others(49): Show c.1147+1379_1147+1408dupGTATATATATATATATATATATATAT ATAT	CFHR5	ENSG00000134389.11	transcript	ENST00000256785.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714668	T T	TATATATA others(23): Show TATATATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0239 a0001c0001t0001g0240	2	308	0.0065	30	c.151 others(47): Show c.1519+752_1519+753insTATATAGAGAGAGAGAGAGAGAGAGAGA GA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714668	T T	TATATATA others(23): Show TATATATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	308	0.0033	30	c.151 others(47): Show c.1519+752_1519+753insTATATATAGAGAGAGAGAGAGAGAGAGA GA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714668	T T	TATATATA others(23): Show TATATATATATAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	308	0.0033	30	c.151 others(47): Show c.1519+752_1519+753insTATATATATAGAGAGAGAGAGAGAGAGA GA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFH_chr1_196647043_196752504	196714668	T T	TATATATA others(23): Show TATATATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	308	0.0033	30	c.151 others(47): Show c.1519+752_1519+753insTATATATATATATAGAGAGAGAGAGAGA GA	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFI_chr4_109735695_109806999	109783811	T T	TAATATAT others(23): Show TAATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02615.hp1 HG02280.hp2 HG02615.hp1	a0001 a0009 a0001 a0009	a0001c0002 a0009c0011 a0001c0002 a0009c0011	a0001c0002t0001 a0009c0011t0001 a0001c0002t0001 a0009c0011t0001	a0001c0002t0001g0136 a0009c0011t0001g0113 a0001c0002t0001g0136 a0009c0011t0001g0113	2	354	0.0057	30	c.58- others(47): Show c.58-16988_58-16987insTATATATATATATATATATATATATATA TT	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	1/12			chr4	TogoVar
CFLAR_chr2_201111164_201181687	201173669	G G	GTTATTTT others(23): Show GTTATTTTATTTTATTTTATTTTATTTTATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02559.hp2 HG02572.hp1 HG02630.hp1 others(6): Show HG02559.hp2 HG02572.hp1 HG02630.hp1 HG02818.hp2 HG02886.hp2 HG02976.hp2 HG03098.hp2 HG03195.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0033 a0001c0001t0070 others(1): Show a0001c0001t0009 a0001c0001t0033 a0001c0001t0070 a0001c0001t0131	a0001c0001t0009g0008 a0001c0001t0009g0047 a0001c0001t0009g0050 others(5): Show a0001c0001t0009g0008 a0001c0001t0009g0047 a0001c0001t0009g0050 a0001c0001t0009g0052 a0001c0001t0033g0048 a0001c0001t0033g0049 a0001c0001t0070g0158 a0001c0001t0131g0060	9	234	0.0385	30	c.97 others(41): Show c.9713_*9714insATTTTATTTTATTTTATTTTATTTTATTTT	CFLAR	ENSG00000003402.21	transcript	ENST00000309955.8	protein_coding	10/10	9714	INFO_REALIGN_3_PRIME	chr2	TogoVar
CGNL1_chr15_57371505_57555717	57394101	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01934.hp1 HG03225.hp1 others(3): Show HG01358.hp2 HG01934.hp1 HG03225.hp1 HG03540.hp1 HG03710.hp1 NA19043.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 a0002c0002t0037 a0004c0004t0002	a0001c0001t0001g0139 a0001c0001t0002g0032 a0001c0001t0002g0256 others(3): Show a0001c0001t0001g0139 a0001c0001t0002g0032 a0001c0001t0002g0256 a0002c0002t0003g0241 a0002c0002t0037g0161 a0004c0004t0002g0283	6	294	0.0204	30	c.-16 others(49): Show c.-16+17537_-16+17538insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57442182	G G	GGAAAAAA others(23): Show GGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01975.hp2 NA18971.hp2 HG01975.hp2 NA18971.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0008 a0001c0005 a0002c0008	a0001c0005t0001 a0002c0008t0003 a0001c0005t0001 a0002c0008t0003	a0001c0005t0001g0222 a0002c0008t0003g0202 a0001c0005t0001g0222 a0002c0008t0003g0202	2	294	0.0068	30	c.169 others(47): Show c.1698-191_1698-190insGAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	3/18			chr15	TogoVar
CGREF1_chr2_27095594_27124128	27116871	T T	TTCTCTCT others(23): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00621.hp1 HG01123.hp2 others(1): Show HG00323.hp1 HG00621.hp1 HG01123.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0242 a0001c0001t0001g0293 a0001c0001t0001g0294 others(1): Show a0001c0001t0001g0242 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0002t0002g0241	4	352	0.0114	30	c.-12 others(47): Show c.-12+1945_-12+1974dupGAGAGAGAGAGAGAGAGAGAGAGAGAGA GA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGREF1_chr2_27095594_27124128	27116923	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp2 HG01993.hp1 others(3): Show HG00642.hp2 HG00741.hp2 HG01993.hp1 HG03669.hp1 NA18612.hp2 NA19082.hp2	a0001 a0001	a0001c0002 a0001c0012 a0001c0002 a0001c0012	a0001c0002t0002 a0001c0012t0002 a0001c0002t0002 a0001c0012t0002	a0001c0002t0002g0011 a0001c0002t0002g0047 a0001c0002t0002g0048 others(2): Show a0001c0002t0002g0011 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0122 a0001c0012t0002g0080	6	352	0.0171	30	c.-12 others(47): Show c.-12+1922_-12+1923insAAGAGAGAGAGAGAGAGAGAGAGAGAGA GA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGRRF1_chr14_54504906_54544292	54513573	T T	TATGTTAT others(23): Show TATGTTATGTTATGTCATGTTATGTTATGTA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0210 a0002c0002t0002g0210	1	338	0.0030	30	c.104 others(47): Show c.104+3524_104+3525insCATGTTATGTTATGTAATGTTATGTTAT GT	CGRRF1	ENSG00000100532.13	transcript	ENST00000216420.12	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
CHAF1A_chr19_4397640_4448397	4408461	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA19043.hp2 NA18952.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0265 a0001c0001t0001g0222 a0001c0001t0001g0265	2	384	0.0052	30	c.104 others(45): Show c.104-441_104-412dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1A_chr19_4397640_4448397	4411644	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0320 a0001c0003t0003g0320	1	384	0.0026	30	c.960 others(47): Show c.960+1906_960+1907insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHCHD3_chr7_132779870_133087090	132955173	G G	GGTGTGTG others(23): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA19004.hp1 NA18944.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0164 a0001c0001t0001g0131 a0001c0001t0001g0164	2	310	0.0065	30	c.369 others(49): Show c.369+19966_369+19995dupACACACACACACACACACACACACAC ACAC	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	4/7			chr7	TogoVar
CHCHD6_chr3_126699240_126965420	126862588	A A	ACCACCTC others(23): Show ACCACCTCCTCCTCCACCATCACCACCTCCT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp2 HG01496.hp1 others(2): Show HG00735.hp1 HG01109.hp2 HG01496.hp1 HG03139.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0041 others(2): Show a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043	5	216	0.0232	30	c.495 others(47): Show c.495+9860_495+9861insACCTCCTCCTCCACCATCACCACCTCCT CC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHD1L_chr1_147237684_147300762	147299000	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0110 a0002c0002t0001g0110	1	418	0.0024	30	c.34 others(41): Show c.3491_*3492insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CHD1L	ENSG00000131778.20	transcript	ENST00000369258.8	protein_coding		3239		chr1	TogoVar
CHD1_chr5_98848985_98934007	98911146	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0025 a0002c0002t0025	a0002c0002t0025g0133 a0002c0002t0025g0133	1	334	0.0030	30	c.54- others(45): Show c.54-6049_54-6048insATATATATATATATATATATATATTTTTTT	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98911146	A A	AAAATATA others(23): Show AAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03516.hp2 HG02486.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0080 a0002c0002t0002g0082 a0002c0002t0002g0080 a0002c0002t0002g0082	2	334	0.0060	30	c.54- others(45): Show c.54-6049_54-6048insATATATATATATATATATATATATATATTT	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	2/35			chr5	TogoVar
CHD3_chr17_7883789_7917755	7885307	C C	CCCGCCGC others(23): Show CCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG01099.hp1 others(4): Show HG00423.hp2 HG00544.hp1 HG01099.hp1 HG03195.hp2 HG03927.hp2 NA18992.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0044 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0162 a0001c0001t0002g0022	7	366	0.0191	30	c.-36 others(41): Show c.-3694_-3693insCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG	CHD3	ENSG00000170004.19	transcript	ENST00000330494.12	protein_coding		3481		chr17	TogoVar
CHD7_chr8_60673740_60873028	60678764	C C	CGCGGCGG others(23): Show CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0065 a0001c0001t0047g0065	1	236	0.0042	30	c.-46 others(39): Show c.-467_-466insGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	CHD7	ENSG00000171316.14	transcript	ENST00000423902.7	protein_coding	1/38	62642	INFO_REALIGN_3_PRIME	chr8	TogoVar
CHD8_chr14_21380199_21461123	21442738	C C	CGGGAGGA others(23): Show CGGGAGGAGAGGGGAGGAGAGGGGAGGAGAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	260	0.0039	30	c.-21 others(51): Show c.-215-10910_-215-10881dupCTCTCCTCCCCTCTCCTCCCCTCT CCTCCC	CHD8	ENSG00000100888.15	transcript	ENST00000646647.2	protein_coding	1/37			chr14	TogoVar
CHD8_chr14_21380199_21461123	21454162	A A	AAAAAGAA others(23): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0248 a0001c0001t0003g0248	1	260	0.0039	30	c.-21 others(49): Show c.-216+1840_-216+1869dupCTTTTCTTTTCTTTTCTTTTCTTTTC TTTT	CHD8	ENSG00000100888.15	transcript	ENST00000646647.2	protein_coding	1/37			chr14	TogoVar
CHD9_chr16_53049991_53332497	53146419	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02630.hp2 HG02895.hp2 others(1): Show HG02602.hp2 HG02630.hp2 HG02895.hp2 NA19070.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0012 a0003c0004 a0001c0001 a0001c0012 a0003c0004	a0001c0001t0001 a0001c0012t0001 a0003c0004t0001 a0001c0001t0001 a0001c0012t0001 a0003c0004t0001	a0001c0001t0001g0068 a0001c0001t0001g0178 a0001c0012t0001g0132 others(1): Show a0001c0001t0001g0068 a0001c0001t0001g0178 a0001c0012t0001g0132 a0003c0004t0001g0141	4	238	0.0168	30	c.-16 others(49): Show c.-164-9489_-164-9488insTATATATATATATATATATATATATA TATA	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHD9_chr16_53049991_53332497	53146419	G G	GTATGTAT others(23): Show GTATGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02015.hp1 HG02027.hp2 others(14): Show HG01243.hp1 HG02015.hp1 HG02027.hp2 HG02280.hp1 HG02683.hp1 HG02886.hp2 HG02965.hp1 HG03017.hp2 HG03516.hp1 HG03942.hp1 NA18946.hp2 NA18961.hp1 NA18966.hp1 NA18993.hp1 NA18995.hp2 NA19068.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0015 a0001c0001 a0001c0003 a0001c0015	a0001c0001t0001 a0001c0001t0003 a0001c0003t0002 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0002 a0001c0003t0016 a0001c0003t0017 a0001c0015t0002	a0001c0001t0001g0075 a0001c0001t0001g0099 a0001c0001t0003g0016 others(14): Show a0001c0001t0001g0075 a0001c0001t0001g0099 a0001c0001t0003g0016 a0001c0001t0003g0022 a0001c0001t0003g0079 a0001c0001t0003g0105 a0001c0003t0002g0033 a0001c0003t0002g0040 a0001c0003t0002g0073 a0001c0003t0002g0080 a0001c0003t0002g0083 a0001c0003t0002g0094 a0001c0003t0002g0153 a0001c0003t0002g0154 a0001c0003t0016g0039 a0001c0003t0017g0181 a0001c0015t0002g0053	17	238	0.0714	30	c.-16 others(49): Show c.-164-9504_-164-9503insGTATATATATATATATATATATATAT ATAT	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHIC1_chrX_73558197_73692111	73655428	G G	GTGTGTAT others(23): Show GTGTGTATATATATACATATATACACAATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01123.hp2 HG01243.hp1 others(5): Show HG00323.hp1 HG01123.hp2 HG01243.hp1 HG01515.hp1 HG01517.hp2 HG02145.hp1 HG02735.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0178 a0001c0001t0002g0179 others(5): Show a0001c0001t0002g0078 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0202	8	208	0.0385	30	c.508 others(49): Show c.508-23883_508-23854dupCATATATACACAATATTGTGTATATA TATA	CHIC1	ENSG00000204116.12	transcript	ENST00000373502.10	protein_coding	3/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
CHIC1_chrX_73558197_73692111	73655526	G G	GTATATAT others(23): Show GTATATATATACATATATACACAATATTGTA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp1 HG02647.hp1 others(10): Show HG02280.hp1 HG02451.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02886.hp2 HG02922.hp1 HG03041.hp2 HG03209.hp1 HG03540.hp2 HG06807.hp1 NA18522.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0021 a0001c0001t0022 a0001c0001t0003 a0001c0001t0021 a0001c0001t0022	a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 others(10): Show a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0176 a0001c0001t0021g0066 a0001c0001t0022g0072	13	208	0.0625	30	c.508 others(49): Show c.508-23790_508-23789insCATATATACACAATATTGTATATATA TATA	CHIC1	ENSG00000204116.12	transcript	ENST00000373502.10	protein_coding	3/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
CHL1_chr3_191763_414417	322643	A A	AAAATATA others(23): Show AAAATATATATATATATATATATATATAATT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	290	0.0035	30	c.91+ others(45): Show c.91+2778_91+2807dupAATATATATATATATATATATATATAATTA	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	322645	A A	AATATATA others(23): Show AATATATATATATATATATATATATAATTAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03139.hp2 HG02145.hp2 HG03139.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0025 a0002c0002t0004 a0001c0001t0025 a0002c0002t0004	a0001c0001t0025g0103 a0002c0002t0004g0290 a0001c0001t0025g0103 a0002c0002t0004g0290	2	290	0.0069	30	c.91+ others(45): Show c.91+2792_91+2821dupTATATATATATAATTATATATATATATATA	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHL1_chr3_191763_414417	322645	A A	AATATATA others(23): Show AATATATATATATATATATATATATATAATT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0017 a0017	a0017c0027 a0017c0027	a0017c0027t0054 a0017c0027t0054	a0017c0027t0054g0110 a0017c0027t0054g0110	1	290	0.0035	30	c.91+ others(45): Show c.91+2803_91+2804insTAATTATATATATATATATATATATATATA	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHMP4A_chr14_24204615_24218488	24209213	A A	AAAGCTAC others(23): Show AAAGCTACTTGCTCCTTCCATTCCAAGTAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	418	0.0024	30	c.66 others(39): Show c.663_*664insGCTACTTGGAATGGAAGGAGCAAGTAGCTT	CHMP4A	ENSG00000254505.11	transcript	ENST00000347519.12	protein_coding		401		chr14	TogoVar
CHMP4C_chr8_81727448_81764515	81751282	G G	GAATTGTG others(23): Show GAATTGTGTCTATGAAGCTTATGATTGTTAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01258.hp2 HG01496.hp2 others(2): Show HG01192.hp1 HG01258.hp2 HG01496.hp2 HG01928.hp2 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0095 a0001c0001t0001g0198 a0001c0001t0001g0017 a0001c0001t0001g0095 a0001c0001t0001g0198	5	408	0.0123	30	c.191 others(47): Show c.191-1761_191-1732dupTGATTGTTAAAATTGTGTCTATGAAGCT TA	CHMP4C	ENSG00000164695.5	transcript	ENST00000297265.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CHMP7_chr8_23238637_23266999	23241367	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0170 a0001c0001t0011g0170	1	438	0.0023	30	c.-29 others(41): Show c.-2918_-2917insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CHMP7	ENSG00000147457.14	transcript	ENST00000397677.6	protein_coding		2269		chr8	TogoVar
CHM_chrX_85856180_86052558	85856289	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	245	0.0041	30	c.83 others(41): Show c.8340_*8341insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding		4890		chrX	TogoVar
CHM_chrX_85856180_86052558	85871320	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0236 a0001c0001t0004g0236	1	245	0.0041	30	c.177 others(49): Show c.1770+1731_1770+1732insCTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	14/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85913332	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	245	0.0041	30	c.116 others(49): Show c.1167-1995_1167-1994insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85949978	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03516.hp2 NA18972.hp1 others(1): Show HG02109.hp1 HG03516.hp2 NA18972.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0019 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0019 a0001c0003t0005	a0001c0001t0001g0232 a0001c0001t0005g0136 a0001c0001t0019g0078 others(1): Show a0001c0001t0001g0232 a0001c0001t0005g0136 a0001c0001t0019g0078 a0001c0003t0005g0226	4	245	0.0163	30	c.116 others(49): Show c.1166+6145_1166+6174dupATATATATATATATATATATATATAT ATAT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	8/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85981204	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0196 a0001c0001t0009g0196	1	245	0.0041	30	c.189 others(45): Show c.189+532_189+533insTATATATATATATATATATATATATATATA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	3/14			chrX	TogoVar
CHM_chrX_85856180_86052558	85981206	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03209.hp1 HG02486.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0021 a0001c0001t0007 a0001c0001t0021	a0001c0001t0007g0075 a0001c0001t0021g0244 a0001c0001t0007g0075 a0001c0001t0021g0244	2	245	0.0082	30	c.189 others(45): Show c.189+530_189+531insTATATATATATATATATATATATATATATA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	3/14			chrX	TogoVar
CHN1_chr2_174793809_175010381	174847773	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0261 a0001c0001t0015g0261	1	276	0.0036	30	c.550 others(45): Show c.550-817_550-816insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CHN1	ENSG00000128656.15	transcript	ENST00000409900.9	protein_coding	6/12			chr2	TogoVar
CHN2_chr7_29189775_29519328	29195629	A A	AGAGAGAG others(23): Show AGAGAGAGAGAGAGAGAGAGAGAGAGTGTGT	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA19082.hp1 HG02055.hp2 NA19082.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0003 a0003c0007t0013 a0001c0001t0003 a0003c0007t0013	a0001c0001t0003g0014 a0003c0007t0013g0013 a0001c0001t0003g0014 a0003c0007t0013g0013	2	232	0.0086	30	c.49+ others(43): Show c.49+640_49+641insAGAGAGAGAGAGAGAGAGAGAGAGTGTGTG	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHN2_chr7_29189775_29519328	29212994	C C	CACTCAGA others(23): Show CACTCAGACCTGGTGCACCCAGTCCTGGAAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp1 HG01069.hp2 others(10): Show HG00323.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01433.hp1 HG01928.hp1 HG01978.hp1 HG01981.hp2 HG02280.hp2 HG02293.hp1 HG02647.hp1 HG03209.hp2 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0002t0010 a0001c0002t0020 a0001c0005t0001 a0002c0003t0004	a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0003g0231 others(10): Show a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0003g0231 a0001c0001t0006g0020 a0001c0001t0006g0036 a0001c0001t0008g0008 a0001c0001t0008g0010 a0001c0001t0008g0011 a0001c0001t0011g0053 a0001c0002t0010g0210 a0001c0002t0020g0052 a0001c0005t0001g0051 a0002c0003t0004g0089	13	232	0.0560	30	c.49+ others(47): Show c.49+18005_49+18006insCTCAGACCTGGTGCACCCAGTCCTGGAA TA	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar

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