Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CSAG1_chrX_152722484_152738721	152729992	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	318	0.0031	18	c.17- others(33): Show c.17-1786_17-1769dupTATATATATATATATATA	CSAG1	ENSG00000198930.13	transcript	ENST00000452779.3	protein_coding	2/3			chrX	TogoVar
CSAG2_chrX_152703261_152714273	152709605	A A	AAGAGAGA others(11): Show AAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	211	0.0047	18	c.-51 others(27): Show c.-511_-494dupCTCTCTCTCTCTCTCTCT	CSAG2	ENSG00000268902.4	transcript	ENST00000638741.2	protein_coding		333		chrX	TogoVar
CSDC2_chr22_41556010_41581666	41561045	G G	GACACACA others(11): Show GACACACACACACACACAC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0055 a0001c0001t0033g0055	1	288	0.0035	18	c.-24 others(27): Show c.-242_-225dupCACACACACACACACACA	CSDC2	ENSG00000172346.15	transcript	ENST00000306149.12	protein_coding	1/4	10883	INFO_REALIGN_3_PRIME	chr22	TogoVar
CSDC2_chr22_41556010_41581666	41561045	G G	GACACACA others(11): Show GACACACAGACACACACAC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02451.hp1 HG02486.hp1 HG03579.hp1 others(1): Show HG02451.hp1 HG02486.hp1 HG03579.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0010 a0001c0001t0019g0126 a0001c0001t0019g0010 a0001c0001t0019g0126	4	288	0.0139	18	c.-25 others(27): Show c.-255_-254insGACACACACACACACACA	CSDC2	ENSG00000172346.15	transcript	ENST00000306149.12	protein_coding	1/4	10913	INFO_REALIGN_3_PRIME	chr22	TogoVar
CSE1L_chr20_49041312_49101949	49047564	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03239.hp1 NA18946.hp1 others(3): Show HG02723.hp1 HG03239.hp1 NA18946.hp1 NA18946.hp2 NA18970.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0002t0001g0359 others(3): Show a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0002t0001g0359 a0001c0002t0001g0360 a0001c0002t0001g0361 a0001c0002t0001g0376	6	386	0.0155	18	c.-12 others(35): Show c.-12+1152_-12+1169dupTTTTTTTTTTTTTTTTTT	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr20	TogoVar
CSE1L_chr20_49041312_49101949	49065313	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	386	0.0026	18	c.229 others(33): Show c.229-869_229-852dupTTTTTTTTTTTTTTTTTT	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr20	TogoVar
CSF1R_chr5_150048295_150091554	150085277	G G	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp2 HG01071.hp1 others(51): Show HG00609.hp1 HG00639.hp2 HG01071.hp1 HG01081.hp2 HG01346.hp1 HG01358.hp2 HG01516.hp1 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02486.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02976.hp2 HG03041.hp2 HG03492.hp2 HG03579.hp1 HG03704.hp2 HG04228.hp1 NA18522.hp2 NA18906.hp1 NA18943.hp1 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18954.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18982.hp2 NA18985.hp1 NA18987.hp1 NA18993.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19060.hp2 NA19079.hp2 NA19081.hp1 NA19088.hp2 NA20905.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0009	a0001c0001 a0001c0002 a0001c0004 others(10): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0002c0003 a0002c0008 a0002c0013 a0003c0007 a0003c0015 a0004c0009 a0005c0033 a0009c0016	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(21): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0017 a0001c0002t0001 a0001c0004t0008 a0001c0004t0010 a0001c0004t0015 a0001c0004t0022 a0001c0005t0001 a0001c0005t0004 a0001c0006t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0008t0001 a0002c0008t0011 a0002c0013t0003 a0003c0007t0003 a0003c0015t0003 a0004c0009t0008 a0005c0033t0004 a0009c0016t0004	a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0298 others(51): Show a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0298 a0001c0001t0004g0302 a0001c0001t0005g0286 a0001c0001t0005g0291 a0001c0001t0005g0313 a0001c0001t0007g0270 a0001c0001t0007g0285 a0001c0001t0007g0314 a0001c0001t0007g0315 a0001c0001t0007g0316 a0001c0001t0017g0292 a0001c0002t0001g0293 a0001c0002t0001g0310 a0001c0004t0008g0284 a0001c0004t0010g0271 a0001c0004t0010g0275 a0001c0004t0010g0276 a0001c0004t0010g0287 a0001c0004t0010g0288 a0001c0004t0015g0269 a0001c0004t0022g0299 a0001c0005t0001g0265 a0001c0005t0001g0280 a0001c0005t0001g0281 a0001c0005t0001g0309 a0001c0005t0004g0268 a0001c0005t0004g0273 a0001c0005t0004g0282 a0001c0005t0004g0300 a0001c0006t0001g0283 a0002c0003t0001g0266 a0002c0003t0001g0267 a0002c0003t0001g0272 a0002c0003t0001g0289 a0002c0003t0001g0297 a0002c0003t0001g0304 a0002c0003t0001g0305 a0002c0003t0001g0307 a0002c0003t0001g0311 a0002c0003t0002g0274 a0002c0003t0002g0308 a0002c0003t0004g0317 a0002c0008t0001g0239 a0002c0008t0011g0278 a0002c0013t0003g0290 a0003c0007t0003g0295 a0003c0015t0003g0306 a0004c0009t0008g0296 a0004c0009t0008g0301 a0005c0033t0004g0312 a0009c0016t0004g0294 a0009c0016t0004g0303	54	406	0.1330	18	c.49+ others(33): Show c.49+1101_49+1102insTTTTTTTTTTTTTTTTTT	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF2RA_chrX_1263814_1314935	1280904	G G	GCTCCTTC others(11): Show GCTCCTTCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00423.hp1 others(27): Show HG00140.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG01106.hp1 HG01175.hp1 HG01192.hp2 HG01346.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02897.hp1 HG03710.hp1 NA18954.hp1 NA18954.hp2 NA18969.hp2 NA18975.hp1 NA18980.hp2 NA19012.hp2 NA19063.hp1 NA19080.hp1 NA19080.hp2 NA19087.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0001c0002 a0001c0018 others(1): Show a0001c0001 a0001c0002 a0001c0018 a0011c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0013 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0018t0003 a0011c0022t0004	a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0056 others(27): Show a0001c0001t0001g0048 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0076 a0001c0001t0001g0092 a0001c0001t0001g0101 a0001c0001t0001g0115 a0001c0001t0002g0034 a0001c0001t0002g0051 a0001c0001t0002g0071 a0001c0001t0003g0041 a0001c0001t0003g0093 a0001c0001t0003g0116 a0001c0001t0003g0118 a0001c0001t0003g0133 a0001c0001t0004g0012 a0001c0001t0004g0049 a0001c0001t0004g0055 a0001c0001t0004g0057 a0001c0001t0004g0114 a0001c0001t0008g0120 a0001c0001t0013g0004 a0001c0002t0001g0052 a0001c0002t0003g0059 a0001c0002t0003g0080 a0001c0002t0004g0058 a0001c0002t0004g0098 a0001c0002t0004g0110 a0001c0018t0003g0107 a0011c0022t0004g0073	30	159	0.1887	18	c.-26 others(35): Show c.-26-1750_-26-1733dupTCTCCTCCTCCTCCTCCT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1280919	C C	CCTCCTCC others(11): Show CCTCCTCCTTCTCCTCCTA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	159	0.0063	18	c.-26 others(35): Show c.-26-1742_-26-1741insACTCCTCCTTCTCCTCCT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSGALNACT1_chr8_19399161_19762277	19408949	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp1 HG01261.hp1 others(4): Show HG00280.hp1 HG00733.hp1 HG01261.hp1 HG02451.hp1 HG03041.hp2 HG04204.hp2 HG04228.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0017 a0001c0002t0014 others(4): Show a0001c0001t0001 a0001c0001t0017 a0001c0002t0014 a0001c0002t0022 a0002c0003t0003 a0002c0003t0028 a0002c0003t0037	a0001c0001t0001g0083 a0001c0001t0017g0121 a0001c0002t0014g0120 others(4): Show a0001c0001t0001g0083 a0001c0001t0017g0121 a0001c0002t0014g0120 a0001c0002t0022g0079 a0002c0003t0003g0203 a0002c0003t0028g0111 a0002c0003t0037g0233	7	238	0.0294	18	c.122 others(35): Show c.1228-273_1228-256dupGTGTGTGTGTGTGTGTGT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	7/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513434	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	238	0.0042	18	c.-29 others(37): Show c.-296-7305_-296-7304insTATATATATATATATATA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513436	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01192.hp1 HG00673.hp1 HG01192.hp1	a0001 a0001	a0001c0006 a0001c0007 a0001c0006 a0001c0007	a0001c0006t0002 a0001c0007t0039 a0001c0006t0002 a0001c0007t0039	a0001c0006t0002g0136 a0001c0007t0039g0041 a0001c0006t0002g0136 a0001c0007t0039g0041	2	238	0.0084	18	c.-29 others(37): Show c.-296-7324_-296-7307dupTATATATATATATATATA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513436	C C	CTCTATAT others(11): Show CTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18971.hp2 HG00597.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0129 a0001c0001t0001g0134	2	238	0.0084	18	c.-29 others(37): Show c.-296-7307_-296-7306insTATATATATATATATAGA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513436	C C	CTCTCTAT others(11): Show CTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0047 a0001c0002t0006g0047	1	238	0.0042	18	c.-29 others(37): Show c.-296-7307_-296-7306insTATATATATATATAGAGA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513436	C C	CTCTCTCT others(11): Show CTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02040.hp2 HG00323.hp1 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0108 a0001c0001t0001g0112	2	238	0.0084	18	c.-29 others(37): Show c.-296-7307_-296-7306insTATATATATATAGAGAGA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513436	C C	CTCTCTCT others(11): Show CTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0082 a0001c0001t0019g0082	1	238	0.0042	18	c.-29 others(37): Show c.-296-7307_-296-7306insTATATATATAGAGAGAGA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513436	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0202 a0001c0001t0010g0202	1	238	0.0042	18	c.-29 others(37): Show c.-296-7307_-296-7306insTATATATAGAGAGAGAGA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513436	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	238	0.0042	18	c.-29 others(37): Show c.-296-7307_-296-7306insTATAGAGAGAGAGAGAGA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513436	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0165 a0001c0001t0017g0165	1	238	0.0042	18	c.-29 others(37): Show c.-296-7307_-296-7306insTAGAGAGAGAGAGAGAGA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513437	T T	TCTCTCTA others(11): Show TCTCTCTATATATATATAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0017 a0001c0002t0006g0017	1	238	0.0042	18	c.-29 others(37): Show c.-296-7308_-296-7307insGTATATATATATAGAGAG	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19514475	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01515.hp2 HG02015.hp2 others(11): Show HG00280.hp1 HG01515.hp2 HG02015.hp2 HG02055.hp1 HG02056.hp2 HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02809.hp1 HG02886.hp2 HG02976.hp1 HG03471.hp2 NA18906.hp2 NA18942.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0010	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0002c0008 a0003c0005 a0004c0009 a0010c0016	a0001c0001t0001 a0001c0002t0006 a0001c0002t0022 others(9): Show a0001c0001t0001 a0001c0002t0006 a0001c0002t0022 a0002c0003t0005 a0002c0003t0007 a0002c0003t0011 a0002c0003t0020 a0002c0003t0028 a0002c0008t0003 a0003c0005t0004 a0004c0009t0003 a0010c0016t0009	a0001c0001t0001g0053 a0001c0002t0006g0045 a0001c0002t0022g0169 others(11): Show a0001c0001t0001g0053 a0001c0002t0006g0045 a0001c0002t0022g0169 a0002c0003t0005g0043 a0002c0003t0005g0190 a0002c0003t0007g0179 a0002c0003t0011g0092 a0002c0003t0020g0101 a0002c0003t0028g0111 a0002c0008t0003g0140 a0003c0005t0004g0094 a0003c0005t0004g0184 a0004c0009t0003g0215 a0010c0016t0009g0161	14	238	0.0588	18	c.-29 others(37): Show c.-296-8363_-296-8346dupTATATATATATATATATA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19541553	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01074.hp2 HG03041.hp1 others(3): Show HG00738.hp2 HG01074.hp2 HG03041.hp1 HG04199.hp2 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0027 a0001c0002t0002g0067 a0001c0002t0002g0084 others(3): Show a0001c0002t0002g0027 a0001c0002t0002g0067 a0001c0002t0002g0084 a0001c0002t0002g0103 a0001c0002t0002g0164 a0001c0002t0002g0234	6	238	0.0252	18	c.-29 others(39): Show c.-296-35441_-296-35424dupAAAAAAAAAAAAAAAAAA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19542200	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	238	0.0042	18	c.-29 others(39): Show c.-296-36088_-296-36071dupGTGTGTGTGTGTGTGTGT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19553620	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02647.hp2 HG02717.hp1 others(4): Show HG02074.hp1 HG02647.hp2 HG02717.hp1 HG03516.hp2 NA18522.hp1 NA18977.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0017 others(1): Show a0001c0001 a0001c0002 a0001c0017 a0002c0003	a0001c0001t0001 a0001c0001t0010 a0001c0002t0003 others(4): Show a0001c0001t0001 a0001c0001t0010 a0001c0002t0003 a0001c0002t0005 a0001c0002t0016 a0001c0017t0023 a0002c0003t0045	a0001c0001t0001g0139 a0001c0001t0010g0202 a0001c0002t0003g0098 others(4): Show a0001c0001t0001g0139 a0001c0001t0010g0202 a0001c0002t0003g0098 a0001c0002t0005g0172 a0001c0002t0016g0173 a0001c0017t0023g0011 a0002c0003t0045g0090	7	238	0.0294	18	c.-29 others(39): Show c.-296-47508_-296-47491dupATATATATATATATATAT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19590640	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0006 a0006	a0006c0021 a0006c0021	a0006c0021t0040 a0006c0021t0040	a0006c0021t0040g0178 a0006c0021t0040g0178	1	238	0.0042	18	c.-29 others(39): Show c.-297+11113_-297+11130dupAAAAAAAAAAAAAAAAAA	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19599472	A A	AAAAGAAA others(11): Show AAAAGAAAGAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp2 HG02559.hp1 others(8): Show HG02055.hp2 HG02258.hp2 HG02559.hp1 HG02630.hp1 HG02886.hp1 HG03471.hp1 NA18942.hp1 NA18977.hp1 NA18988.hp1 NA19011.hp1 NA20300.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0002c0008 a0004c0009	a0001c0001t0010 a0001c0002t0005 a0001c0002t0023 others(6): Show a0001c0001t0010 a0001c0002t0005 a0001c0002t0023 a0001c0002t0041 a0002c0003t0005 a0002c0003t0012 a0002c0004t0005 a0002c0008t0003 a0004c0009t0012	a0001c0001t0010g0202 a0001c0002t0005g0080 a0001c0002t0023g0096 others(8): Show a0001c0001t0010g0202 a0001c0002t0005g0080 a0001c0002t0023g0096 a0001c0002t0041g0031 a0002c0003t0005g0100 a0002c0003t0005g0113 a0002c0003t0005g0190 a0002c0003t0012g0066 a0002c0004t0005g0015 a0002c0008t0003g0140 a0004c0009t0012g0070	11	238	0.0462	18	c.-29 others(37): Show c.-297+2298_-297+2299insCTTTCTTTTTCTTTCTTT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666809	A A	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0008	1	238	0.0042	18	c.-39 others(39): Show c.-391-64945_-391-64944insCTTTCTTTCTTTCTTTCT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666809	A A	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAGAG	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0104 a0002c0003t0004g0104	1	238	0.0042	18	c.-39 others(39): Show c.-391-64945_-391-64944insCTCTCTTTCTTTCTTTCT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19666809	A A	AAGAAAGA others(11): Show AAGAAAGAAAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0105 a0002c0003t0003g0105	1	238	0.0042	18	c.-39 others(39): Show c.-391-64945_-391-64944insCTCTCTCTCTTTCTTTCT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667043	G G	GAGACAGA others(11): Show GAGACAGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	238	0.0042	18	c.-39 others(39): Show c.-391-65179_-391-65178insTTCTCTCTCTCTCTGTCT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSGALNACT2_chr10_43133445_43190302	43146963	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0303 a0001c0001t0004g0303	1	398	0.0025	18	c.-25 others(37): Show c.-253-7925_-253-7908dupTTTTTTTTTTTTTTTTTT	CSGALNACT2	ENSG00000169826.8	transcript	ENST00000374466.4	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CSH1_chr17_63889918_63901574	63898120	T T	TTCTTTCT others(11): Show TTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	18	c.-16 others(29): Show c.-1610_-1609insGAAAGAAAGAAAGAAAGA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1547		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898124	T T	TTCTTTCT others(11): Show TTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG01106.hp2 NA18975.hp2 others(1): Show HG00558.hp2 HG01106.hp2 NA18975.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	428	0.0094	18	c.-16 others(29): Show c.-1614_-1613insGAAAGAAAGAAAGAAAGA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1551		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898144	T T	TTCTTTCT others(11): Show TTCTTTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19011.hp2 NA19003.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	428	0.0047	18	c.-16 others(29): Show c.-1634_-1633insGAGAGAGAGAGAGAAAGA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1571		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898144	T T	TTCTTTCT others(11): Show TTCTTTCTTTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	18	c.-16 others(29): Show c.-1634_-1633insGAGAGAGAGAAAGAAAGA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1571		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898144	T T	TTCTTTCT others(11): Show TTCTTTCTTTCTTTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	18	c.-16 others(29): Show c.-1634_-1633insGAGAGAAAGAAAGAAAGA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1571		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898144	T T	TTCTTTCT others(11): Show TTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	428	0.0023	18	c.-16 others(29): Show c.-1634_-1633insGAAAGAAAGAAAGAAAGA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1571		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898152	C C	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG02300.hp2 HG03669.hp1 others(1): Show HG00741.hp2 HG02300.hp2 HG03669.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	428	0.0094	18	c.-16 others(29): Show c.-1642_-1641insAAGAAAGAAAGAAAGAAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1579		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898156	C C	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG02523.hp1 NA19065.hp1 HG00673.hp2 HG02523.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	428	0.0070	18	c.-16 others(29): Show c.-1646_-1645insAAGAAAGAAAGAAAGAAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1583		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898172	C C	CTCTCTTT others(11): Show CTCTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0003 a0002c0003t0001g0003	1	428	0.0023	18	c.-16 others(29): Show c.-1662_-1661insAAGAAAGAAAGAAAGAGA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1599		chr17	TogoVar
CSH1_chr17_63889918_63901574	63898172	C C	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02809.hp1 HG02615.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	2	428	0.0047	18	c.-16 others(29): Show c.-1662_-1661insAAGAAAGAAAGAAAGAAA	CSH1	ENSG00000136488.15	transcript	ENST00000316193.13	protein_coding		1599		chr17	TogoVar
CSK_chr15_74777080_74808197	74786013	T T	TTTTTTTT others(11): Show TTTTTTTTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03669.hp2 HG01496.hp1 HG03669.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0006 a0001c0002 a0002c0006	a0001c0002t0001 a0002c0006t0001 a0001c0002t0001 a0002c0006t0001	a0001c0002t0001g0158 a0002c0006t0001g0144 a0001c0002t0001g0158 a0002c0006t0001g0144	2	394	0.0051	18	c.-66 others(35): Show c.-66+3294_-66+3295insTTTTTTGTGTGTGTGTGT	CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CSK_chr15_74777080_74808197	74786013	T T	TTTTTTTT others(11): Show TTTTTTTTTTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG04115.hp1 NA19004.hp2 HG03834.hp2 HG04115.hp1 NA19004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0049 a0001c0002t0001g0163 a0001c0002t0001g0049 a0001c0002t0001g0163	3	394	0.0076	18	c.-66 others(35): Show c.-66+3294_-66+3295insTTTTTTTTGTGTGTGTGT	CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CSK_chr15_74777080_74808197	74786013	T T	TTTTTTTT others(11): Show TTTTTTTTTTTTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG03927.hp2 HG03942.hp2 HG00544.hp1 HG03927.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177	3	394	0.0076	18	c.-66 others(35): Show c.-66+3294_-66+3295insTTTTTTTTTTGTGTGTGT	CSK	ENSG00000103653.17	transcript	ENST00000220003.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
CSMD1_chr8_2930361_4999914	2960939	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18906.hp1 NA18995.hp1 others(2): Show HG02074.hp2 NA18906.hp1 NA18995.hp1 NA19240.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0085 a0001c0109 a0001c0111 others(2): Show a0001c0085 a0001c0109 a0001c0111 a0002c0032 a0002c0091	a0001c0085t0020 a0001c0109t0038 a0001c0111t0045 others(2): Show a0001c0085t0020 a0001c0109t0038 a0001c0111t0045 a0002c0032t0050 a0002c0091t0002	a0001c0085t0020g0060 a0001c0109t0038g0013 a0001c0111t0045g0063 others(2): Show a0001c0085t0020g0060 a0001c0109t0038g0013 a0001c0111t0045g0063 a0002c0032t0050g0061 a0002c0091t0002g0114	5	126	0.0397	18	c.970 others(35): Show c.9702+184_9702+201dupATATATATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	62/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	2980595	A A	AGGCAGAG others(11): Show AGGCAGAGAACCAAATGTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0005 a0001c0002t0028g0005	1	126	0.0079	18	c.837 others(37): Show c.8378-1796_8378-1795insAACATTTGGTTCTCTGCC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	54/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	2985938	A A	AGGGAAGG others(11): Show AGGGAAGGGGAAGGGGAAG	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA19240.hp2 NA20129.hp2 HG03516.hp2 NA19240.hp2 NA20129.hp2	a0001 a0030 a0001 a0030	a0001c0045 a0001c0111 a0030c0106 a0001c0045 a0001c0111 a0030c0106	a0001c0045t0012 a0001c0111t0045 a0030c0106t0012 a0001c0045t0012 a0001c0111t0045 a0030c0106t0012	a0001c0045t0012g0010 a0001c0111t0045g0063 a0030c0106t0012g0042 a0001c0045t0012g0010 a0001c0111t0045g0063 a0030c0106t0012g0042	3	126	0.0238	18	c.837 others(37): Show c.8378-7156_8378-7139dupCTTCCCCTTCCCCTTCCC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	54/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3155359	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00438.hp2 others(8): Show HG00423.hp2 HG00438.hp1 HG00438.hp2 HG01081.hp1 HG02074.hp2 NA18971.hp1 NA18979.hp1 NA18984.hp2 NA18995.hp1 NA19060.hp2 NA19090.hp1	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0003 a0001c0081 a0001c0094 others(8): Show a0001c0003 a0001c0081 a0001c0094 a0001c0102 a0001c0109 a0002c0036 a0002c0048 a0002c0077 a0002c0089 a0002c0091 a0013c0018	a0001c0003t0013 a0001c0081t0037 a0001c0094t0002 others(8): Show a0001c0003t0013 a0001c0081t0037 a0001c0094t0002 a0001c0102t0005 a0001c0109t0038 a0002c0036t0029 a0002c0048t0013 a0002c0077t0001 a0002c0089t0001 a0002c0091t0002 a0013c0018t0058	a0001c0003t0013g0026 a0001c0081t0037g0030 a0001c0094t0002g0110 others(8): Show a0001c0003t0013g0026 a0001c0081t0037g0030 a0001c0094t0002g0110 a0001c0102t0005g0034 a0001c0109t0038g0013 a0002c0036t0029g0009 a0002c0048t0013g0015 a0002c0077t0001g0016 a0002c0089t0001g0037 a0002c0091t0002g0114 a0013c0018t0058g0068	11	126	0.0873	18	c.591 others(37): Show c.5914+2520_5914+2537dupAAAAAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	39/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3182841	G G	GGGGTGTG others(11): Show GGGGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02257.hp1 HG02451.hp1 others(4): Show HG00423.hp1 HG02257.hp1 HG02451.hp1 NA19060.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1	a0001 a0002 a0008 others(2): Show a0001 a0002 a0008 a0010 a0039	a0001c0102 a0002c0048 a0002c0051 others(4): Show a0001c0102 a0002c0048 a0002c0051 a0002c0092 a0008c0088 a0010c0096 a0039c0010	a0001c0102t0005 a0002c0048t0013 a0002c0051t0006 others(4): Show a0001c0102t0005 a0002c0048t0013 a0002c0051t0006 a0002c0092t0001 a0008c0088t0076 a0010c0096t0067 a0039c0010t0070	a0001c0102t0005g0034 a0002c0048t0013g0015 a0002c0051t0006g0081 others(4): Show a0001c0102t0005g0034 a0002c0048t0013g0015 a0002c0051t0006g0081 a0002c0092t0001g0011 a0008c0088t0076g0057 a0010c0096t0067g0116 a0039c0010t0070g0084	7	126	0.0556	18	c.562 others(37): Show c.5621-1628_5621-1627insACACACACACACACACCC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3182841	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03130.hp2 HG02886.hp1 HG03130.hp2	a0001 a0028 a0001 a0028	a0001c0039 a0028c0044 a0001c0039 a0028c0044	a0001c0039t0066 a0028c0044t0064 a0001c0039t0066 a0028c0044t0064	a0001c0039t0066g0080 a0028c0044t0064g0085 a0001c0039t0066g0080 a0028c0044t0064g0085	2	126	0.0159	18	c.562 others(37): Show c.5621-1645_5621-1628dupACACACACACACACACAC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	36/69			chr8	TogoVar

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