Joint Open Genome and Omics Platform (JoGo)

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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

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SCNN1B_chr16_23297302_23386294	23310290	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0013 a0001c0011t0001g0013	1	306	0.0033	-10	c.-9+ others(25): Show c.-9+7867_-9+7876delAAAAAAAAAA		SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23365489	GAAAAGAA others(3): Show GAAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01516.hp1 HG01516.hp2 others(4): Show HG01074.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG02615.hp1 NA19043.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 a0001c0001 a0001c0003 a0001c0009	a0001c0001t0001 a0001c0003t0001 a0001c0009t0001 a0001c0001t0001 a0001c0003t0001 a0001c0009t0001	a0001c0001t0001g0137 a0001c0003t0001g0103 a0001c0003t0001g0159 others(4): Show a0001c0001t0001g0137 a0001c0003t0001g0103 a0001c0003t0001g0159 a0001c0003t0001g0200 a0001c0003t0001g0249 a0001c0009t0001g0059 a0001c0009t0001g0191	7	306	0.0229	-10	c.777 others(27): Show c.777-2354_777-2345delAAGAAAGAAA		SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23365547	AAGAAGGA others(3): Show AAGAAGGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02559.hp2 HG02886.hp1 others(4): Show HG01891.hp2 HG02559.hp2 HG02886.hp1 HG03486.hp2 HG03579.hp1 HG06807.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 others(1): Show a0001c0001 a0001c0003 a0002c0004 a0002c0007	a0001c0001t0001 a0001c0003t0001 a0002c0004t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0002c0004t0001 a0002c0007t0001	a0001c0001t0001g0282 a0001c0003t0001g0074 a0001c0003t0001g0274 others(4): Show a0001c0001t0001g0282 a0001c0003t0001g0074 a0001c0003t0001g0274 a0001c0003t0001g0287 a0001c0003t0001g0292 a0002c0004t0001g0151 a0002c0007t0001g0294	7	306	0.0229	-10	c.777 others(27): Show c.777-2304_777-2295delGGAAAGAGAA		SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23376345	CGTGTGTG others(3): Show CGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG02027.hp2 others(17): Show HG00408.hp1 HG00408.hp2 HG02027.hp2 HG02572.hp2 HG02602.hp1 HG03239.hp2 HG03669.hp1 HG03688.hp1 HG03834.hp1 HG04115.hp1 NA18944.hp2 NA18949.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18966.hp2 NA18971.hp1 NA18980.hp1 NA19007.hp2 NA19066.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0010 a0001c0001 a0001c0002 a0007c0010	a0001c0001t0001 a0001c0002t0001 a0007c0010t0001 a0001c0001t0001 a0001c0002t0001 a0007c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0019 others(17): Show a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0026 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0061 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0118 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0158 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0231 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0002t0001g0185 a0007c0010t0001g0127	20	306	0.0654	-10	c.127 others(27): Show c.1270+510_1270+519delTGTGTGTGTG		SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1D_chr1_1275436_1297025	1283671	CTGGGCAA others(3): Show CTGGGCAACAA	C C	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	290	0.0035	-10	c.352 others(25): Show c.352-306_352-297delTGGGCAACAA		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	4/17						chr1	TogoVar
SCNN1G_chr16_23177745_23221883	23204288	CATATATA others(3): Show CATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01070.hp1 HG01256.hp2 others(7): Show HG00099.hp2 HG01070.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01361.hp1 HG01433.hp2 HG01952.hp1 HG02602.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 a0001c0001 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0004t0001 a0001c0007t0001 a0001c0001t0001 a0001c0004t0001 a0001c0007t0001	a0001c0001t0001g0006 a0001c0001t0001g0123 a0001c0001t0001g0209 others(6): Show a0001c0001t0001g0006 a0001c0001t0001g0123 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0238 a0001c0004t0001g0047 a0001c0007t0001g0046	10	320	0.0313	-10	c.107 others(29): Show c.1078-5424_1078-5415delTATATATATA		SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23204326	TATATATA others(3): Show TATATATATAG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01993.hp1 HG02809.hp2 others(1): Show HG00140.hp2 HG01993.hp1 HG02809.hp2 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0003t0002 a0001c0007t0001 a0001c0001t0001 a0001c0003t0002 a0001c0007t0001	a0001c0001t0001g0216 a0001c0003t0002g0240 a0001c0003t0002g0242 others(1): Show a0001c0001t0001g0216 a0001c0003t0002g0240 a0001c0003t0002g0242 a0001c0007t0001g0049	4	320	0.0125	-10	c.107 others(29): Show c.1078-5422_1078-5413delTATATATAGA		SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23204328	TATATATA others(3): Show TATATATAGAG	T T	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	2	320	0.0063	-10	c.107 others(29): Show c.1078-5420_1078-5411delTATATAGAGA		SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23204334	TAGAGAGA others(3): Show TAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	320	0.0031	-10	c.107 others(29): Show c.1078-5386_1078-5377delGAGAGAGAGA		SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
SCOC_chr4_140368646_140390728	140369857	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01496.hp1 HG02717.hp1 HG01243.hp1 HG01496.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	3	418	0.0072	-10	c.-39 others(21): Show c.-3910_-3901delTTTTTTTTTT		SCOC	ENSG00000153130.18	transcript	ENST00000608372.6	protein_coding					3788		chr4	TogoVar
SCP2D1_chr20_18808783_18819378	18814117	GGCTCCCA others(3): Show GGCTCCCAGCA	G G	frameshift_variant frameshift_variant	HIGH	HG03041.hp2 HG03041.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0000 a0005c0007t0001g0000	1	454	0.0022	-10	c.304 others(17): Show c.304_313delCTCCCAGCAG	p.Leu others(5): Show p.Leu102fs	SCP2D1	ENSG00000132631.6	transcript	ENST00000377428.4	protein_coding	1/1	337/596	304/471	102/156		INFO_REALIGN_3_PRIME	chr20	TogoVar
SCP2_chr1_52922276_53056698	52934592	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG03579.hp1 HG00099.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0148 a0001c0003t0001g0222 a0001c0001t0001g0148 a0001c0003t0001g0222	2	280	0.0071	-10	c.69+ others(25): Show c.69+7156_69+7165delTTTTTTTTTT		SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCP2_chr1_52922276_53056698	53013106	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG03130.hp1 HG03453.hp1 HG01167.hp2 HG03130.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0011 a0001c0003t0001 a0001c0004t0011	a0001c0003t0001g0134 a0001c0004t0011g0047 a0001c0004t0011g0048 a0001c0003t0001g0134 a0001c0004t0011g0047 a0001c0004t0011g0048	3	280	0.0107	-10	c.108 others(29): Show c.1082-1770_1082-1761delTTTTTTTTTT		SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	11/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCP2_chr1_52922276_53056698	53013882	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02970.hp1 others(2): Show HG02895.hp1 HG02897.hp2 HG02970.hp1 HG03516.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0003 a0001c0003t0001 a0001c0001t0001 a0001c0002t0003 a0001c0003t0001	a0001c0001t0001g0276 a0001c0002t0003g0139 a0001c0002t0003g0142 others(2): Show a0001c0001t0001g0276 a0001c0002t0003g0139 a0001c0002t0003g0142 a0001c0002t0003g0143 a0001c0003t0001g0246	5	280	0.0179	-10	c.108 others(27): Show c.1082-986_1082-977delTTTTTTTTTT		SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	11/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCP2_chr1_52922276_53056698	53037879	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01069.hp2 HG01071.hp1 others(37): Show HG00621.hp1 HG01069.hp2 HG01071.hp1 HG01243.hp2 HG01358.hp2 HG01884.hp1 HG01928.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02055.hp1 HG02109.hp1 HG02148.hp1 HG02165.hp2 HG02280.hp1 HG02559.hp2 HG02698.hp2 HG02717.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG03098.hp1 HG03209.hp2 HG03486.hp2 HG03516.hp2 HG03688.hp2 NA18612.hp1 NA18747.hp2 NA18955.hp1 NA18965.hp2 NA18973.hp1 NA18982.hp1 NA18990.hp1 NA19054.hp1 NA19070.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0003 a0001c0007t0003 a0001c0008t0003	a0001c0001t0001g0251 a0001c0001t0002g0014 a0001c0001t0003g0078 others(37): Show a0001c0001t0001g0251 a0001c0001t0002g0014 a0001c0001t0003g0078 a0001c0001t0003g0090 a0001c0001t0003g0180 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0221 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0233 a0001c0001t0003g0238 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0247 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0262 a0001c0001t0006g0031 a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0002t0003g0139 a0001c0002t0003g0142 a0001c0002t0003g0143 a0001c0007t0003g0248 a0001c0008t0003g0080	40	280	0.1429	-10	c.133 others(27): Show c.1339-996_1339-987delCACACACACA		SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	13/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCP2_chr1_52922276_53056698	53037923	CACACACA others(3): Show CACACACAGAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03540.hp2 NA21309.hp1 HG00323.hp2 HG03540.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0043 a0001c0002t0002g0096 a0001c0002t0002g0166 a0001c0002t0002g0043 a0001c0002t0002g0096 a0001c0002t0002g0166	3	280	0.0107	-10	c.133 others(27): Show c.1339-993_1339-984delACACACAGAT		SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	13/15						chr1	TogoVar
SCP2_chr1_52922276_53056698	53037950	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01258.hp1 HG02451.hp2 HG00639.hp2 HG01258.hp1 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0040 a0001c0003t0001g0007 a0001c0003t0001g0169 a0001c0002t0001g0040 a0001c0003t0001g0007 a0001c0003t0001g0169	3	280	0.0107	-10	c.133 others(27): Show c.1339-937_1339-928delCACACACACA		SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	13/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCRIB_chr8_143785925_143820773	143816168	CGCCCCAG others(3): Show CGCCCCAGGCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01496.hp1 HG02683.hp1 HG01168.hp2 HG01496.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0003 a0001c0001t0001g0013	3	387	0.0078	-10	c.-80 others(19): Show c.-806_-797delTGCCTGGGGC		SCRIB	ENSG00000180900.20	transcript	ENST00000356994.7	protein_coding					396		chr8	TogoVar
SCRN1_chr7_29915109_29994801	29961129	CAGGGTCA others(3): Show CAGGGTCATGG	C C	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	274	0.0037	-10	c.160 others(27): Show c.160-5779_160-5770delCCATGACCCT		SCRN1	ENSG00000136193.17	transcript	ENST00000242059.10	protein_coding	2/7						chr7	TogoVar
SCRN1_chr7_29915109_29994801	29962704	AATAAAAT others(3): Show AATAAAATAAC	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA20129.hp2 HG06807.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0232 a0002c0002t0017g0237 a0002c0002t0017g0232 a0002c0002t0017g0237	2	274	0.0073	-10	c.159 others(27): Show c.159+6195_159+6204delGTTATTTTAT		SCRN1	ENSG00000136193.17	transcript	ENST00000242059.10	protein_coding	2/7						chr7	TogoVar
SCRN1_chr7_29915109_29994801	29986717	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02976.hp1 HG02486.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0221 a0001c0001t0006g0222 a0001c0001t0006g0221 a0001c0001t0006g0222	2	274	0.0073	-10	c.-2+ others(25): Show c.-2+2915_-2+2924delAAAAAAAAAA		SCRN1	ENSG00000136193.17	transcript	ENST00000242059.10	protein_coding	1/7						chr7	TogoVar
SCRT2_chr20_656596_680802	674397	TCTCACAC others(3): Show TCTCACACACA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0108 a0001c0001t0003g0108	1	458	0.0022	-10	c.133 others(27): Show c.133+1062_133+1071delTGTGTGTGAG		SCRT2	ENSG00000215397.4	transcript	ENST00000246104.7	protein_coding	1/1						chr20	TogoVar
SCRT2_chr20_656596_680802	674399	TCACACAC others(3): Show TCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00438.hp2 others(108): Show HG00140.hp2 HG00323.hp2 HG00438.hp2 HG00621.hp1 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02040.hp2 HG02074.hp2 HG02148.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02735.hp1 HG02735.hp2 HG02896.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18954.hp2 NA18957.hp2 NA18960.hp2 NA18963.hp2 NA18965.hp2 NA18968.hp2 NA18971.hp2 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp2 NA18995.hp2 NA18998.hp1 NA19009.hp1 NA19011.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp2 NA19057.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19077.hp1 NA19081.hp1 NA19084.hp1 NA19085.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0023 a0001c0001t0029 a0001c0001t0030 a0001c0001t0034 a0002c0002t0001 a0004c0005t0001	a0001c0001t0001g0004 a0001c0001t0001g0035 a0001c0001t0001g0039 others(57): Show a0001c0001t0001g0004 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0100 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0002g0001 a0001c0001t0002g0015 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0254 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0266 a0001c0001t0003g0023 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0153 a0001c0001t0003g0159 a0001c0001t0003g0162 a0001c0001t0004g0155 a0001c0001t0005g0005 a0001c0001t0005g0250 a0001c0001t0005g0255 a0001c0001t0005g0256 a0001c0001t0007g0069 a0001c0001t0007g0249 a0001c0001t0010g0070 a0001c0001t0011g0024 a0001c0001t0012g0158 a0001c0001t0015g0079 a0001c0001t0015g0080 a0001c0001t0015g0314 a0001c0001t0016g0257 a0001c0001t0018g0030 a0001c0001t0023g0150 a0001c0001t0029g0238 a0001c0001t0030g0260 a0001c0001t0034g0315 a0002c0002t0001g0227 a0004c0005t0001g0161	111	458	0.2424	-10	c.133 others(27): Show c.133+1060_133+1069delTGTGTGTGTG		SCRT2	ENSG00000215397.4	transcript	ENST00000246104.7	protein_coding	1/1						chr20	TogoVar
SCRT2_chr20_656596_680802	674688	AGTGTGTG others(3): Show AGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	458	0.0022	-10	c.133 others(25): Show c.133+771_133+780delACACACACAC		SCRT2	ENSG00000215397.4	transcript	ENST00000246104.7	protein_coding	1/1						chr20	TogoVar
SCRT2_chr20_656596_680802	674723	GTGTGTGT others(3): Show GTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00673.hp1 others(15): Show HG00438.hp1 HG00438.hp2 HG00673.hp1 HG00738.hp2 HG00741.hp2 HG01255.hp2 HG01358.hp1 HG01515.hp2 HG01517.hp1 HG02486.hp2 HG03139.hp1 HG03471.hp1 HG03516.hp1 HG03831.hp2 NA18522.hp1 NA19030.hp1 NA19085.hp1 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0012 a0001c0001t0019 a0001c0001t0029 a0004c0005t0001	a0001c0001t0001g0102 a0001c0001t0001g0160 a0001c0001t0001g0165 others(11): Show a0001c0001t0001g0102 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0002g0071 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0003g0058 a0001c0001t0003g0159 a0001c0001t0003g0162 a0001c0001t0011g0024 a0001c0001t0012g0163 a0001c0001t0019g0164 a0001c0001t0029g0238 a0004c0005t0001g0161	18	458	0.0393	-10	c.133 others(25): Show c.133+736_133+745delTACACACACA		SCRT2	ENSG00000215397.4	transcript	ENST00000246104.7	protein_coding	1/1						chr20	TogoVar
SCTR_chr2_119434843_119529483	119463062	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01243.hp2 HG02109.hp1 others(14): Show HG00639.hp1 HG01243.hp2 HG02109.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02630.hp1 HG02818.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp2 HG03516.hp2 NA18522.hp2 NA19240.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0004 a0003c0006t0005 a0001c0001t0001 a0001c0001t0004 a0003c0006t0005	a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0120 others(14): Show a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0120 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0167 a0001c0001t0001g0235 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0273 a0001c0001t0001g0280 a0001c0001t0004g0006 a0001c0001t0004g0090 a0003c0006t0005g0152 a0003c0006t0005g0168 a0003c0006t0005g0267	17	290	0.0586	-10	c.636 others(27): Show c.636+1051_636+1060delGTGTGTGTGT		SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	6/12						chr2	TogoVar
SCT_chr11_621309_632181	628945	CTTTCTTT others(3): Show CTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	411	0.0024	-10	c.-18 others(21): Show c.-1812_-1803delAAGAAAGAAA		SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding					1765		chr11	TogoVar
SCUBE1_chr22_43192280_43348372	43192632	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01517.hp1 HG01891.hp2 others(4): Show HG00639.hp1 HG01517.hp1 HG01891.hp2 HG02622.hp1 HG03041.hp1 HG03130.hp1 HG03831.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0001c0018 a0002c0005 a0001c0006 a0001c0018 a0002c0005	a0001c0006t0011 a0001c0006t0015 a0001c0006t0086 others(2): Show a0001c0006t0011 a0001c0006t0015 a0001c0006t0086 a0001c0018t0008 a0002c0005t0080	a0001c0006t0011g0150 a0001c0006t0011g0198 a0001c0006t0015g0005 others(4): Show a0001c0006t0011g0150 a0001c0006t0011g0198 a0001c0006t0015g0005 a0001c0006t0086g0272 a0001c0018t0008g0029 a0001c0018t0008g0242 a0002c0005t0080g0056	7	280	0.0250	-10	c.11 others(23): Show c.11355_*11364delAAAAAAAAAA		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding					4647		chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43247560	AGCTGGGA others(3): Show AGCTGGGAGCT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01243.hp2 HG02109.hp1 others(5): Show HG00140.hp1 HG01243.hp2 HG02109.hp1 HG02965.hp2 HG03041.hp1 HG03516.hp1 HG03688.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0018 a0001c0054 others(3): Show a0001c0004 a0001c0018 a0001c0054 a0002c0002 a0002c0005 a0002c0037	a0001c0004t0027 a0001c0018t0008 a0001c0054t0030 others(3): Show a0001c0004t0027 a0001c0018t0008 a0001c0054t0030 a0002c0002t0012 a0002c0005t0001 a0002c0037t0070	a0001c0004t0027g0016 a0001c0018t0008g0242 a0001c0054t0030g0017 others(5): Show a0001c0004t0027g0016 a0001c0018t0008g0242 a0001c0054t0030g0017 a0002c0002t0012g0045 a0002c0002t0012g0172 a0002c0005t0001g0139 a0002c0005t0001g0191 a0002c0037t0070g0255	8	280	0.0286	-10	c.728 others(27): Show c.728-8616_728-8607delAGCTCCCAGC		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	6/21						chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43340481	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01261.hp1 HG01496.hp1 others(12): Show HG01074.hp1 HG01261.hp1 HG01496.hp1 HG01978.hp1 HG02027.hp2 HG02074.hp2 HG02258.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG03195.hp1 HG03710.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0007 a0010	a0001c0003 a0001c0006 a0001c0010 others(9): Show a0001c0003 a0001c0006 a0001c0010 a0001c0012 a0001c0024 a0002c0002 a0002c0005 a0002c0009 a0004c0028 a0005c0016 a0007c0023 a0010c0029	a0001c0003t0003 a0001c0006t0086 a0001c0010t0091 others(11): Show a0001c0003t0003 a0001c0006t0086 a0001c0010t0091 a0001c0010t0092 a0001c0012t0003 a0001c0024t0094 a0002c0002t0002 a0002c0005t0001 a0002c0009t0089 a0002c0009t0090 a0004c0028t0087 a0005c0016t0079 a0007c0023t0093 a0010c0029t0007	a0001c0003t0003g0035 a0001c0006t0086g0272 a0001c0010t0091g0275 others(12): Show a0001c0003t0003g0035 a0001c0006t0086g0272 a0001c0010t0091g0275 a0001c0010t0092g0274 a0001c0012t0003g0097 a0001c0024t0094g0271 a0002c0002t0002g0096 a0002c0005t0001g0094 a0002c0005t0001g0131 a0002c0009t0089g0269 a0002c0009t0090g0270 a0004c0028t0087g0273 a0005c0016t0079g0132 a0007c0023t0093g0268 a0010c0029t0007g0095	15	280	0.0536	-10	c.89- others(25): Show c.89-1256_89-1247delGTGTGTGTGT		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21						chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43344498	ACACACAC others(3): Show ACACACACACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0069 a0002c0002t0002g0069	1	280	0.0036	-10	c.-12 others(21): Show c.-1247_-1238delCGTGTGTGTG		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding					1127		chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43344508	GCACACAC others(3): Show GCACACACACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01891.hp2 HG01978.hp1 others(12): Show HG01496.hp2 HG01891.hp2 HG01978.hp1 HG02080.hp1 HG02083.hp1 HG02165.hp1 NA18944.hp1 NA18950.hp2 NA18994.hp2 NA19003.hp1 NA19005.hp1 NA19066.hp2 NA19079.hp2 NA19080.hp1 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0003 a0001c0018 a0002c0002 others(5): Show a0001c0003 a0001c0018 a0002c0002 a0002c0005 a0002c0052 a0003c0001 a0003c0007 a0006c0015	a0001c0003t0003 a0001c0003t0006 a0001c0018t0008 others(9): Show a0001c0003t0003 a0001c0003t0006 a0001c0018t0008 a0002c0002t0002 a0002c0002t0007 a0002c0002t0013 a0002c0002t0067 a0002c0005t0001 a0002c0052t0002 a0003c0001t0001 a0003c0007t0002 a0006c0015t0007	a0001c0003t0003g0035 a0001c0003t0006g0133 a0001c0018t0008g0029 others(12): Show a0001c0003t0003g0035 a0001c0003t0006g0133 a0001c0018t0008g0029 a0002c0002t0002g0036 a0002c0002t0007g0047 a0002c0002t0013g0062 a0002c0002t0067g0043 a0002c0005t0001g0049 a0002c0052t0002g0048 a0003c0001t0001g0046 a0003c0001t0001g0064 a0003c0001t0001g0143 a0003c0007t0002g0065 a0006c0015t0007g0028 a0006c0015t0007g0066	15	280	0.0536	-10	c.-12 others(21): Show c.-1257_-1248delTGTGTGTGTG		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding					1137		chr22	TogoVar
SCUBE2_chr11_9014476_9096599	9038870	TTTTTCTT others(3): Show TTTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02280.hp2 HG02451.hp2 others(32): Show HG02132.hp1 HG02280.hp2 HG02451.hp2 HG02683.hp2 HG02717.hp1 HG02895.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03486.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18939.hp1 NA18955.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18970.hp2 NA18971.hp2 NA18982.hp2 NA18985.hp1 NA18985.hp2 NA18993.hp1 NA19007.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19066.hp1 NA19070.hp2 NA19078.hp2 NA19081.hp2 NA19083.hp1 NA19085.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0010 a0011	a0001c0001 a0002c0002 a0003c0003 others(6): Show a0001c0001 a0002c0002 a0003c0003 a0003c0009 a0004c0004 a0004c0035 a0005c0005 a0010c0012 a0011c0017	a0001c0001t0003 a0001c0001t0004 a0002c0002t0001 others(11): Show a0001c0001t0003 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 a0002c0002t0010 a0003c0003t0009 a0003c0003t0010 a0003c0009t0001 a0004c0004t0004 a0004c0035t0004 a0005c0005t0001 a0010c0012t0001 a0011c0017t0004	a0001c0001t0003g0327 a0001c0001t0004g0250 a0001c0001t0004g0253 others(31): Show a0001c0001t0003g0327 a0001c0001t0004g0250 a0001c0001t0004g0253 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0319 a0001c0001t0004g0333 a0001c0001t0004g0340 a0002c0002t0001g0025 a0002c0002t0001g0044 a0002c0002t0001g0046 a0002c0002t0001g0068 a0002c0002t0002g0094 a0002c0002t0009g0007 a0002c0002t0010g0069 a0003c0003t0009g0183 a0003c0003t0009g0199 a0003c0003t0010g0176 a0003c0009t0001g0208 a0003c0009t0001g0209 a0004c0004t0004g0251 a0004c0004t0004g0258 a0004c0004t0004g0260 a0004c0004t0004g0301 a0004c0004t0004g0337 a0004c0035t0004g0274 a0005c0005t0001g0001 a0005c0005t0001g0017 a0005c0005t0001g0073 a0005c0005t0001g0077 a0005c0005t0001g0084 a0005c0005t0001g0090 a0010c0012t0001g0129 a0011c0017t0004g0295	35	358	0.0978	-10	c.200 others(29): Show c.2003-5084_2003-5075delGAAAAGAAAA		SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	16/22						chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9045602	GACAGACA others(3): Show GACAGACAGAC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0006 a0008c0008t0006	a0008c0008t0006g0148 a0008c0008t0006g0148	1	358	0.0028	-10	c.200 others(29): Show c.2002+1744_2002+1753delGTCTGTCTGT		SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	16/22						chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9045606	GACAGACA others(3): Show GACAGACACAC	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03041.hp2 HG03710.hp1 HG02280.hp2 HG03041.hp2 HG03710.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0026 a0003c0009t0001 a0001c0001t0026 a0003c0009t0001	a0001c0001t0026g0265 a0003c0009t0001g0208 a0003c0009t0001g0209 a0001c0001t0026g0265 a0003c0009t0001g0208 a0003c0009t0001g0209	3	358	0.0084	-10	c.200 others(29): Show c.2002+1740_2002+1749delGTGTGTCTGT		SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	16/22						chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0006 a0006c0006t0006	a0006c0006t0006g0011 a0006c0006t0006g0011	1	358	0.0028	-10	c.120 others(27): Show c.1208-976_1208-967delAAAAAAAAAA		SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22						chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9058540	GAGCCAAG others(3): Show GAGCCAAGATA	G G	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0006 a0006c0006t0006	a0006c0006t0006g0082 a0006c0006t0006g0082	1	358	0.0028	-10	c.109 others(27): Show c.1090+753_1090+762delTATCTTGGCT		SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	9/22						chr11	TogoVar
SCUBE3_chr6_35208956_35258079	35212002	GCTCTCTC others(3): Show GCTCTCTCTCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0221 a0001c0001t0018g0221	1	290	0.0035	-10	c.-24 others(21): Show c.-2416_-2407delCTCTCTCTCT		SCUBE3	ENSG00000146197.9	transcript	ENST00000274938.8	protein_coding					1953		chr6	TogoVar
SCYGR1_chr2_227382683_227392949	227387227	CTCTCTAT others(3): Show CTCTCTATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0000 a0001c0003t0000	a0001c0003t0000g0000 a0001c0003t0000g0000	1	454	0.0022	-10	c.44 others(19): Show c.446_*455delTATATAGAGA		SCYGR1	ENSG00000284629.1	transcript	ENST00000641359.1	protein_coding					455		chr2	TogoVar
SCYGR1_chr2_227382683_227392949	227387969	CATCAAGT others(3): Show CATCAAGTAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 HG04228.hp2 HG03017.hp1 HG04228.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0000 a0001c0003t0000	a0001c0003t0000g0000 a0001c0003t0000g0000	2	454	0.0044	-10	c.-30 others(17): Show c.-30_-21delTTTACTTGAT		SCYGR1	ENSG00000284629.1	transcript	ENST00000641359.1	protein_coding					21		chr2	TogoVar
SCYGR5_chr2_227661804_227672061	227664655	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 NA19064.hp2 HG01496.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	2	460	0.0044	-10	c.-21 others(21): Show c.-2148_-2139delAAAAAAAAAA		SCYGR5	ENSG00000284667.1	transcript	ENST00000641976.1	protein_coding					2148		chr2	TogoVar
SCYGR5_chr2_227661804_227672061	227669564	AAAAATAA others(3): Show AAAAATAAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(145): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02132.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02300.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG03017.hp2 HG03225.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04228.hp1 NA18612.hp2 NA18943.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18981.hp1 NA18982.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp1 NA19001.hp1 NA19003.hp1 NA19004.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19054.hp2 NA19055.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19076.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0009 a0010	a0001c0001 a0001c0002 a0001c0015 others(7): Show a0001c0001 a0001c0002 a0001c0015 a0002c0004 a0002c0008 a0003c0003 a0004c0005 a0006c0009 a0009c0012 a0010c0016	a0001c0001t0000 a0001c0002t0000 a0001c0015t0000 others(7): Show a0001c0001t0000 a0001c0002t0000 a0001c0015t0000 a0002c0004t0000 a0002c0008t0000 a0003c0003t0000 a0004c0005t0000 a0006c0009t0000 a0009c0012t0000 a0010c0016t0000	a0001c0001t0000g0000 a0001c0002t0000g0000 a0001c0015t0000g0000 others(7): Show a0001c0001t0000g0000 a0001c0002t0000g0000 a0001c0015t0000g0000 a0002c0004t0000g0000 a0002c0008t0000g0000 a0003c0003t0000g0000 a0004c0005t0000g0000 a0006c0009t0000g0000 a0009c0012t0000g0000 a0010c0016t0000g0000	148	460	0.3217	-10	c.25 others(21): Show c.2504_*2513delAAAATAAAAT		SCYGR5	ENSG00000284667.1	transcript	ENST00000641976.1	protein_coding					2504		chr2	TogoVar
SCYGR8_chr2_227740894_227751220	227744927	CTGGAGTG others(3): Show CTGGAGTGCAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp2 NA20905.hp1 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0000 a0002c0002t0000	a0002c0002t0000g0000 a0002c0002t0000g0000	2	457	0.0044	-10	c.-96 others(19): Show c.-966_-957delTGGAGTGCAA		SCYGR8	ENSG00000284635.2	transcript	ENST00000641981.2	protein_coding					966		chr2	TogoVar
SCYL2_chr12_100262177_100346715	100281019	GTTTTTTT others(3): Show GTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02717.hp1 HG02809.hp2 others(6): Show HG02055.hp2 HG02717.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp2 HG03041.hp2 HG03486.hp2 NA18522.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0189 a0001c0002t0004g0190 a0001c0002t0004g0191 others(6): Show a0001c0002t0004g0189 a0001c0002t0004g0190 a0001c0002t0004g0191 a0001c0002t0004g0192 a0001c0002t0004g0193 a0001c0002t0004g0194 a0001c0002t0004g0195 a0001c0002t0004g0196 a0001c0002t0004g0197	9	220	0.0409	-10	c.-28 others(27): Show c.-28-1904_-28-1895delTTTTTTTTTT		SCYL2	ENSG00000136021.19	transcript	ENST00000360820.7	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr12	TogoVar
SCYL3_chr1_169844631_169898896	169851001	TTTTTTAT others(3): Show TTTTTTATTTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0123 a0001c0001t0123	a0001c0001t0123g0234 a0001c0001t0123g0234	1	418	0.0024	-10	c.27 others(21): Show c.2702_*2711delCAAATAAAAA		SCYL3	ENSG00000000457.14	transcript	ENST00000367771.11	protein_coding	13/13				2702		chr1	TogoVar
SCYL3_chr1_169844631_169898896	169851045	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00423.hp1 others(61): Show HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00609.hp2 HG00741.hp1 HG01081.hp2 HG01168.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01358.hp2 HG01361.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01975.hp2 HG02004.hp2 HG02071.hp2 HG02074.hp1 HG02135.hp2 HG02273.hp1 HG02293.hp2 HG02622.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02886.hp2 HG02965.hp2 HG03017.hp2 HG03130.hp2 HG03225.hp1 HG03491.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp2 NA18941.hp1 NA18944.hp1 NA18948.hp2 NA18950.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18967.hp2 NA18972.hp2 NA18982.hp1 NA19000.hp1 NA19005.hp2 NA19030.hp2 NA19055.hp1 NA19075.hp2 NA19080.hp2 NA19083.hp1 NA19088.hp2 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 others(4): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0012 a0001c0001t0048 a0001c0001t0050 a0001c0001t0084 a0001c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0031 others(35): Show a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0264 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0011g0004 a0001c0001t0011g0186 a0001c0001t0012g0066 a0001c0001t0012g0166 a0001c0001t0012g0168 a0001c0001t0012g0179 a0001c0001t0012g0183 a0001c0001t0012g0191 a0001c0001t0012g0197 a0001c0001t0012g0291 a0001c0001t0048g0180 a0001c0001t0048g0195 a0001c0001t0050g0182 a0001c0001t0050g0185 a0001c0001t0084g0171 a0001c0006t0001g0173 a0001c0006t0001g0174 a0001c0006t0001g0194	64	418	0.1531	-10	c.26 others(21): Show c.2658_*2667delAAAAAAAAAA		SCYL3	ENSG00000000457.14	transcript	ENST00000367771.11	protein_coding	13/13				2658		chr1	TogoVar
SDAD1_chr4_75944915_75995945	75963427	AAGCCACT others(3): Show AAGCCACTGGT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0016 a0001c0001t0010g0016	1	376	0.0027	-10	c.118 others(27): Show c.1181+698_1181+707delACCAGTGGCT		SDAD1	ENSG00000198301.12	transcript	ENST00000356260.10	protein_coding	14/21						chr4	TogoVar
SDAD1_chr4_75944915_75995945	75966267	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0046 a0002c0003t0002g0046	1	376	0.0027	-10	c.104 others(27): Show c.1046-455_1046-446delGTGTGTGTGT		SDAD1	ENSG00000198301.12	transcript	ENST00000356260.10	protein_coding	12/21						chr4	TogoVar
SDAD1_chr4_75944915_75995945	75984778	AACACACA others(3): Show AACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01943.hp2 HG01175.hp2 HG01943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0288 a0001c0002t0002g0351 a0001c0002t0001g0288 a0001c0002t0002g0351	2	376	0.0053	-10	c.91- others(25): Show c.91-2751_91-2742delGTGTGTGTGT		SDAD1	ENSG00000198301.12	transcript	ENST00000356260.10	protein_coding	1/21						chr4	TogoVar
SDAD1_chr4_75944915_75995945	75995721	TCAGTCTC others(3): Show TCAGTCTCCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0021 a0002c0003t0006g0021	1	376	0.0027	-10	c.-48 others(21): Show c.-4890_-4881delTGGGAGACTG		SDAD1	ENSG00000198301.12	transcript	ENST00000356260.10	protein_coding					4777		chr4	TogoVar

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