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

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
CACNG7_chr19_53904278_53948950	53922065	GCCCCAGG others(46): Show GCCCCAGGTCTGGTATTGGTGGAGTTGTCCCCAGGCCTGGTCATTGGTGG AGTT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03516.hp1 HG02451.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0065 a0001c0001t0007g0067 a0001c0001t0001g0065 a0001c0001t0007g0067	2	364	0.0055	-53	c.424 others(70): Show c.424+6561_424+6613delCCCCAGGTCTGGTATTGGTGGAGTTGTC CCCAGGCCTGGTCATTGGTGGAGTT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5			chr19	TogoVar
CACNG7_chr19_53904278_53948950	53922174	GTCCCAGG others(46): Show GTCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTATTGGTGGAG TTGT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02922.hp2 NA20129.hp2 HG01884.hp1 HG02922.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0003 a0001c0001t0003g0028 a0001c0001t0003g0029	3	364	0.0082	-53	c.424 others(70): Show c.424+6670_424+6722delTCCCAGGCTGGTCATTGGTGGAGTTGCC CCAGGTCTGGTATTGGTGGAGTTGT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5			chr19	TogoVar
CACNG7_chr19_53904278_53948950	53922501	TCCCAGGT others(46): Show TCCCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGCTGGTCATTGGTGGAG TTGC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01884.hp1 HG02922.hp2 others(1): Show HG01070.hp2 HG01884.hp1 HG02922.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0004 a0001c0001t0003g0003 a0001c0001t0003g0028 others(1): Show a0001c0001t0002g0004 a0001c0001t0003g0003 a0001c0001t0003g0028 a0001c0001t0003g0029	4	364	0.0110	-53	c.424 others(70): Show c.424+7030_424+7082delCTGGTCATTGGTGGAGTTGCCCCAGGTC TGGTCATTGGTGGAGTTGTCCCAGG	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53922726	GGTCATTG others(46): Show GGTCATTGGTGGAGTTGTCCCAGGTCTGGTCATTGGTGGGGTTGTCCCAG GCTC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp2 HG00738.hp1 others(27): Show HG00099.hp1 HG00621.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01256.hp1 HG01258.hp2 HG01433.hp1 HG01516.hp1 HG01975.hp2 HG02055.hp2 HG02080.hp1 HG02258.hp1 HG02300.hp2 HG02976.hp1 HG03041.hp1 HG03834.hp1 HG04115.hp1 HG04199.hp2 NA18747.hp1 NA18950.hp1 NA18959.hp2 NA19000.hp2 NA19060.hp1 NA19062.hp1 NA19065.hp2 NA19079.hp2 NA19090.hp1 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0007 a0001c0001t0001g0172 a0001c0001t0001g0246 others(26): Show a0001c0001t0001g0007 a0001c0001t0001g0172 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0313 a0001c0001t0001g0327 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0338 a0001c0001t0002g0178 a0001c0001t0002g0264 a0001c0001t0002g0282 a0001c0001t0002g0314 a0001c0001t0002g0329 a0001c0001t0003g0024 a0001c0001t0004g0054 a0001c0001t0004g0056 a0001c0001t0005g0055	30	364	0.0824	-53	c.424 others(70): Show c.424+7238_424+7290delTCCCAGGTCTGGTCATTGGTGGGGTTGT CCCAGGCTCGTCATTGGTGGAGTTG	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53922879	TCAGGCTG others(46): Show TCAGGCTGGTCATTGGTGGAGTTGCCCCAGGCCTGGTCATTGGTGGAGTT GTCC	T T	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	364	0.0028	-53	c.424 others(70): Show c.424+7379_424+7431delCTGGTCATTGGTGGAGTTGCCCCAGGCC TGGTCATTGGTGGAGTTGTCCCAGG	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53923173	TCCCAGGT others(46): Show TCCCAGGTCTGGTCATTGGTGGGGTTGTCCCAGGCTCGTCATTGGTGGAG TTGC	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	364	0.0028	-53	c.424 others(70): Show c.424+7690_424+7742delGGTTGTCCCAGGCTCGTCATTGGTGGAG TTGCCCCAGGTCTGGTCATTGGTGG	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53925011	TATTGGTG others(46): Show TATTGGTGGACTTGCCTAGGGCTGGTCATTGGTGGACTTGCCCCAGGTCT GGTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(122): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00621.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01975.hp2 HG01993.hp2 HG02055.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18747.hp1 NA18747.hp2 NA18944.hp1 NA18949.hp1 NA18950.hp1 NA18959.hp2 NA18975.hp1 NA19000.hp2 NA19007.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19060.hp1 NA19062.hp1 NA19065.hp2 NA19066.hp1 NA19077.hp2 NA19079.hp2 NA19087.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0002t0002	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(117): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0172 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0338 a0001c0001t0001g0352 a0001c0001t0001g0355 a0001c0001t0002g0004 a0001c0001t0002g0015 a0001c0001t0002g0091 a0001c0001t0002g0178 a0001c0001t0002g0221 a0001c0001t0002g0235 a0001c0001t0002g0264 a0001c0001t0002g0282 a0001c0001t0002g0314 a0001c0001t0002g0316 a0001c0001t0002g0329 a0001c0001t0003g0003 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0004g0054 a0001c0001t0004g0056 a0001c0001t0004g0217 a0001c0001t0004g0354 a0001c0001t0005g0055 a0001c0001t0005g0348 a0001c0001t0006g0017 a0001c0001t0006g0020 a0001c0001t0006g0351 a0001c0001t0007g0064 a0001c0001t0008g0025 a0001c0001t0010g0233 a0001c0001t0011g0349 a0001c0001t0012g0223 a0001c0001t0013g0009 a0001c0001t0014g0208 a0001c0001t0015g0031 a0001c0001t0019g0281 a0001c0001t0020g0058 a0001c0001t0021g0068 a0001c0001t0023g0214 a0001c0002t0002g0019	125	364	0.3434	-53	c.424 others(70): Show c.424+9516_424+9568delCTTGCCTAGGGCTGGTCATTGGTGGACT TGCCCCAGGTCTGGTCATTGGTGGA	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CADM2_chr3_84953989_86079429	85769056	AGTATATA others(46): Show AGTATATATACACATATATACATATATAGTATATATACACATATATACAT ATAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0048 a0001c0002t0048	a0001c0002t0048g0096 a0001c0002t0048g0096	1	146	0.0069	-53	c.89- others(70): Show c.89-32937_89-32885delGTATATATACACATATATACATATATAG TATATATACACATATATACATATAT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CALML6_chr1_1910260_1922296	1920257	CCATTTCT others(46): Show CCATTTCTTCCAGGGGGACCCCAGACCCTTATCCCTCTGCCACCAGGCCA GGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	394	0.0025	-53	c.30 others(64): Show c.3065_*3117delCATTTCTTCCAGGGGGACCCCAGACCCTTATCCC TCTGCCACCAGGCCAGGGG	CALML6	ENSG00000169885.10	transcript	ENST00000307786.8	protein_coding		2962		chr1	TogoVar
CAMK2B_chr7_44212154_44330594	44227306	GGAGAGTA others(46): Show GGAGAGTATGGGGGACAGAGGGGGTGTGGGGGACAGAAGGGGGTGTGGAA GACA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0023 a0001c0004t0023	a0001c0004t0023g0201 a0001c0004t0023g0201	1	242	0.0041	-53	c.146 others(70): Show c.1469-715_1469-663delTGTCTTCCACACCCCCTTCTGTCCCCCA CACCCCCTCTGTCCCCCATACTCTC	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23			chr7	TogoVar
CAMSAP2_chr1_200733893_200865704	200811377	CTAGAATA others(46): Show CTAGAATATTCCTCCTCAGTATCCAGCTACTCTAGCAGTGCCAGATTTCC CTTG	C C	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	366	0.0027	-53	c.561 others(70): Show c.561+3841_561+3893delTAGAATATTCCTCCTCAGTATCCAGCTA CTCTAGCAGTGCCAGATTTCCCTTG	CAMSAP2	ENSG00000118200.15	transcript	ENST00000358823.7	protein_coding	3/16			chr1	TogoVar
CANT1_chr17_78986716_79014764	79009175	GTGGTCCC others(46): Show GTGGTCCCCACACTAATCAGAGCGGGGAGGTGCCCCACAGTAATCAGAGG GGGA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00621.hp2 others(39): Show HG00323.hp1 HG00438.hp2 HG00621.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02074.hp2 HG02129.hp1 HG02135.hp1 HG02258.hp1 HG02895.hp1 HG02897.hp2 HG03017.hp2 HG03209.hp1 HG03225.hp2 HG03491.hp1 HG04184.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18943.hp1 NA18948.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18968.hp2 NA18971.hp1 NA18981.hp1 NA18984.hp2 NA19000.hp2 NA19001.hp2 NA19009.hp2 NA19056.hp1 NA19058.hp1 NA19060.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp2 NA19085.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0006 a0001c0002 a0001c0003 a0001c0006	a0001c0002t0002 a0001c0002t0013 a0001c0002t0025 others(4): Show a0001c0002t0002 a0001c0002t0013 a0001c0002t0025 a0001c0002t0026 a0001c0002t0027 a0001c0003t0002 a0001c0006t0002	a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0067 others(26): Show a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0067 a0001c0002t0002g0074 a0001c0002t0013g0053 a0001c0002t0025g0264 a0001c0002t0026g0262 a0001c0002t0027g0263 a0001c0003t0002g0005 a0001c0003t0002g0007 a0001c0003t0002g0025 a0001c0003t0002g0056 a0001c0003t0002g0057 a0001c0003t0002g0058 a0001c0003t0002g0059 a0001c0003t0002g0063 a0001c0003t0002g0064 a0001c0003t0002g0065 a0001c0003t0002g0066 a0001c0003t0002g0068 a0001c0003t0002g0069 a0001c0003t0002g0070 a0001c0003t0002g0071 a0001c0003t0002g0072 a0001c0003t0002g0073 a0001c0003t0002g0075 a0001c0003t0002g0076 a0001c0003t0002g0077 a0001c0006t0002g0060	42	394	0.1066	-53	c.-14 others(70): Show c.-147+436_-147+488delTCCCCCTCTGATTACTGTGGGGCACCTC CCCGCTCTGATTAGTGTGGGGACCA	CANT1	ENSG00000171302.17	transcript	ENST00000392446.10	protein_coding	1/4			chr17	TogoVar
CBFA2T3_chr16_88869858_88982207	88967117	ACCCCCGA others(46): Show ACCCCCGAGGTGCCACTCGGCCCCGACACGCGGCAGCACCATGCCACCCC CCAG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	284	0.0035	-53	c.151 others(70): Show c.151+9487_151+9539delCTGGGGGGTGGCATGGTGCTGCCGCGTG TCGGGGCCGAGTGGCACCTCGGGGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88967147	CGGCAGCA others(46): Show CGGCAGCACCATGCCACCCCCCAGCCCCCGAGGTGCCACTCGGCCCCGAC ACGA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01517.hp2 HG00280.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0270 a0001c0001t0001g0271	2	284	0.0070	-53	c.151 others(70): Show c.151+9457_151+9509delTCGTGTCGGGGCCGAGTGGCACCTCGGG GGCTGGGGGGTGGCATGGTGCTGCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88967154	ACCATGCC others(46): Show ACCATGCCACCCCCCAGCCCCCGAGGTGCCACTCGGCCCCGACACGAGGC AGCG	A A	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA21309.hp1 HG03654.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0234 a0001c0001t0001g0013 a0001c0001t0001g0234	2	284	0.0070	-53	c.151 others(70): Show c.151+9450_151+9502delCGCTGCCTCGTGTCGGGGCCGAGTGGCA CCTCGGGGGCTGGGGGGTGGCATGG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CCDC187_chr9_136244973_136309094	136252015	GAGCCGGC others(46): Show GAGCCGGCCGCCCACCCAGTCCACCCTGGGAAGGTCCAGGCAACCATCCC GCAC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0174 a0174	a0174c0178 a0174c0178	a0174c0178t0078 a0174c0178t0078	a0174c0178t0078g0219 a0174c0178t0078g0219	1	400	0.0025	-53	c.15 others(64): Show c.1526_*1578delGTGCGGGATGGTTGCCTGGACCTTCCCAGGGTGG ACTGGGTGGGCGGCCGGCT	CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	26/26	1526		chr9	TogoVar
CCDC187_chr9_136244973_136309094	136252379	AGGGGAAG others(46): Show AGGGGAAGGTCCAGGCAACCGTCCCGCACAGCCGGCCGCCCACCCTGTCC ACCG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0019 a0019	a0019c0040 a0019c0040	a0019c0040t0092 a0019c0040t0092	a0019c0040t0092g0204 a0019c0040t0092g0204	1	400	0.0025	-53	c.11 others(64): Show c.1162_*1214delCGGTGGACAGGGTGGGCGGCCGGCTGTGCGGGAC GGTTGCCTGGACCTTCCCC	CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	26/26	1162		chr9	TogoVar
CCDC6_chr10_59783747_59911556	59882512	GGAAAGCC others(46): Show GGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAA AGCC	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02717.hp1 HG02622.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0003 a0001c0001t0002 a0001c0003t0003	a0001c0001t0002g0190 a0001c0003t0003g0186 a0001c0001t0002g0190 a0001c0003t0003g0186	2	288	0.0069	-53	c.303 others(72): Show c.303+23557_303+23609delGGCTTTCCTTTCCTTCTCCCCGCGGC TTTCCTTTCCTTCTCCCCCTGGCTTTC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC77_chr12_396644_447642	415302	CATAATAT others(46): Show CATAATATTATGTTAATATAATCAACATAATATTATGTTAATATAATCAA CATA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0417 a0001c0001t0004g0417	1	432	0.0023	-53	c.271 others(70): Show c.271-3188_271-3136delATATTATGTTAATATAATCAACATAATA TTATGTTAATATAATCAACATAATA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	415358	ATTATGTT others(46): Show ATTATGTTAATATAATCAACATAATATTATGTTAATATAATCAACATAAT ATGT	A A	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02683.hp2 HG03239.hp1 others(2): Show HG01071.hp1 HG02683.hp2 HG03239.hp1 HG03239.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0238 others(2): Show a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0366	5	432	0.0116	-53	c.271 others(70): Show c.271-3134_271-3082delTATGTTAATATAATCAACATAATATTAT GTTAATATAATCAACATAATATGTT	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCM2_chr7_44995201_45081453	45076848	ACCCCGTG others(46): Show ACCCCGTGGAACAGAAATGCTCTCTGAGATCTCGTCACCTTGGAGCCTGG GGGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	316	0.0032	-53	c.79 others(62): Show c.792_*844delCCCCGTGGAACAGAAATGCTCTCTGAGATCTCGTCA CCTTGGAGCCTGGGGGC	CCM2	ENSG00000136280.17	transcript	ENST00000258781.11	protein_coding		396		chr7	TogoVar
CCNH_chr5_87389274_87417930	87417179	GTCAGTTT others(46): Show GTCAGTTTAGCCAGAAATCCTTTATCCTTGGTGTTTCCTCTTAGTAATTT TCCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0009 a0004c0004t0001g0009	1	354	0.0028	-53	c.-44 others(64): Show c.-4438_-4386delTGGAAAATTACTAAGAGGAAACACCAAGGATAAA GGATTTCTGGCTAAACTGA	CCNH	ENSG00000134480.17	transcript	ENST00000256897.9	protein_coding		4250		chr5	TogoVar
CCSER2_chr10_84323589_84523517	84457253	ATATAAAA others(46): Show ATATAAAATATATTATATATAATATATTATATATTATATATTATATATAA TATG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02055.hp1 HG02145.hp1 others(11): Show HG00639.hp1 HG02055.hp1 HG02145.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02809.hp2 HG02886.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp2 HG03516.hp1 NA19030.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0019 a0003c0004t0007 a0003c0004t0019	a0003c0004t0007g0042 a0003c0004t0007g0045 a0003c0004t0007g0046 others(11): Show a0003c0004t0007g0042 a0003c0004t0007g0045 a0003c0004t0007g0046 a0003c0004t0007g0047 a0003c0004t0007g0048 a0003c0004t0007g0049 a0003c0004t0007g0067 a0003c0004t0007g0068 a0003c0004t0007g0069 a0003c0004t0007g0070 a0003c0004t0007g0071 a0003c0004t0007g0072 a0003c0004t0007g0341 a0003c0004t0019g0044	14	370	0.0378	-53	c.206 others(72): Show c.2065-6678_2065-6626delATAAAATATATTATATATAATATATT ATATATTATATATTATATATAATATGT	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CD300A_chr17_74461634_74489794	74483882	GCCTCTAC others(46): Show GCCTCTACAGTGAGGCCTCCCCAAAGCCCCTCAGGTGTCCTCCCTCCTCC ATCC	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	424	0.0024	-53	c.775 others(67): Show c.775-118_775-66delCCTCTACAGTGAGGCCTCCCCAAAGCCCCTC AGGTGTCCTCCCTCCTCCATCC	CD300A	ENSG00000167851.15	transcript	ENST00000360141.8	protein_coding	6/6			chr17	TogoVar
CD300C_chr17_74536073_74551115	74550257	CATGTCCT others(46): Show CATGTCCTCTAATCCACAAACCCTCTTCTGATCATTGTCAGTGAAATAGC GACT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0009 a0001c0001t0005g0009	1	408	0.0025	-53	c.-45 others(64): Show c.-4528_-4476delAGTCGCTATTTCACTGACAATGATCAGAAGAGGG TTTGTGGATTAGAGGACAT	CD300C	ENSG00000167850.4	transcript	ENST00000330793.2	protein_coding		4143		chr17	TogoVar
CDH12_chr5_21745673_22858344	21832848	GATATATG others(46): Show GATATATGATATATATCATATGATATATGATATAATATTAATATATATCA TATA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02647.hp2 HG02809.hp1 others(3): Show HG01070.hp2 HG02647.hp2 HG02809.hp1 HG02896.hp1 HG03209.hp2 HG06807.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0007c0012	a0001c0001t0002 a0001c0002t0003 a0001c0002t0006 others(3): Show a0001c0001t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0023 a0002c0004t0003 a0007c0012t0002	a0001c0001t0002g0028 a0001c0002t0003g0052 a0001c0002t0006g0030 others(3): Show a0001c0001t0002g0028 a0001c0002t0003g0052 a0001c0002t0006g0030 a0001c0002t0023g0046 a0002c0004t0003g0016 a0007c0012t0002g0048	6	60	0.1000	-53	c.814 others(70): Show c.814+9260_814+9312delTATATGATATATATTAATATTATATCAT ATATCATATGATATATATCATATAT	CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	8/14			chr5	TogoVar
CDH4_chr20_61247261_61945617	61944370	CTGACGAT others(46): Show CTGACGATGAGGAGCATTGCGACTGTATGCACCGTGGCCGCCCCTTCTCA CCGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0045 a0003c0018t0045	a0003c0018t0045g0052 a0003c0018t0045g0052	1	106	0.0094	-53	c.74 others(64): Show c.7428_*7480delTGACGATGAGGAGCATTGCGACTGTATGCACCGT GGCCGCCCCTTCTCACCGA	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		3754		chr20	TogoVar
CDK10_chr16_89681689_89701354	89686244	CTCACCTG others(46): Show CTCACCTGGGGAACCCCCCCCCCACCTAGAGGATCCTCTTACCTGGAGGG CCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 NA18977.hp2 HG02451.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0060 a0001c0001t0005g0068 a0001c0001t0003g0060 a0001c0001t0005g0068	2	422	0.0047	-53	c.-46 others(62): Show c.-466_-414delTCACCTGGGGAACCCCCCCCCCACCTAGAGGATCCT CTTACCTGGAGGGCCCT	CDK10	ENSG00000185324.22	transcript	ENST00000353379.12	protein_coding		444		chr16	TogoVar
CDK11B_chr1_1630225_1664004	1651421	GTAGCCCC others(46): Show GTAGCCCCTCTGAACGGTCTGTGACACACGCATGCTTTCAGCTAGAGTAC TCTA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(208): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01192.hp1 HG01243.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp2 HG03490.hp1 HG03516.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19007.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19063.hp1 NA19064.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp2 NA19084.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0003 a0001c0004 others(13): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0013 a0001c0014 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0003c0018 a0004c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0003t0002 a0001c0003t0003 a0001c0004t0003 a0001c0004t0013 a0001c0005t0006 a0001c0005t0008 a0001c0006t0008 a0001c0007t0002 a0001c0008t0002 a0001c0009t0006 a0001c0013t0003 a0001c0014t0006 a0001c0019t0011 a0001c0020t0003 a0001c0021t0003 a0001c0022t0003 a0003c0018t0002 a0004c0023t0002	a0001c0001t0001g0235 a0001c0001t0001g0271 a0001c0001t0001g0302 others(200): Show a0001c0001t0001g0235 a0001c0001t0001g0271 a0001c0001t0001g0302 a0001c0001t0001g0345 a0001c0001t0001g0348 a0001c0001t0001g0366 a0001c0001t0001g0379 a0001c0001t0001g0381 a0001c0001t0001g0382 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0223 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0230 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0236 a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0245 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0279 a0001c0001t0002g0287 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0308 a0001c0001t0002g0311 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0328 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0002g0349 a0001c0001t0002g0351 a0001c0001t0002g0357 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0364 a0001c0001t0002g0365 a0001c0001t0002g0404 a0001c0001t0002g0408 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0280 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0299 a0001c0001t0003g0310 a0001c0001t0003g0318 a0001c0001t0003g0327 a0001c0001t0003g0344 a0001c0001t0003g0352 a0001c0001t0003g0354 a0001c0001t0003g0355 a0001c0001t0003g0356 a0001c0001t0003g0370 a0001c0001t0003g0386 a0001c0001t0003g0390 a0001c0001t0003g0392 a0001c0001t0003g0394 a0001c0001t0003g0395 a0001c0001t0003g0401 a0001c0001t0003g0402 a0001c0001t0003g0403 a0001c0001t0005g0380 a0001c0001t0007g0221 a0001c0001t0007g0234 a0001c0001t0007g0237 a0001c0001t0007g0240 a0001c0001t0007g0244 a0001c0001t0007g0268 a0001c0001t0008g0261 a0001c0001t0008g0281 a0001c0001t0009g0269 a0001c0001t0009g0270 a0001c0001t0009g0298 a0001c0001t0010g0414 a0001c0001t0010g0415 a0001c0001t0010g0416 a0001c0001t0011g0412 a0001c0001t0011g0413 a0001c0001t0012g0026 a0001c0001t0012g0027 a0001c0001t0014g0389 a0001c0003t0002g0022 a0001c0003t0002g0023 a0001c0003t0002g0030 a0001c0003t0002g0222 a0001c0003t0002g0224 a0001c0003t0002g0229 a0001c0003t0002g0243 a0001c0003t0002g0246 a0001c0003t0002g0247 a0001c0003t0002g0250 a0001c0003t0002g0251 a0001c0003t0002g0254 a0001c0003t0002g0256 a0001c0003t0002g0259 a0001c0003t0002g0263 a0001c0003t0002g0264 a0001c0003t0002g0278 a0001c0003t0003g0231 a0001c0003t0003g0238 a0001c0003t0003g0257 a0001c0003t0003g0258 a0001c0004t0003g0367 a0001c0004t0003g0368 a0001c0004t0003g0369 a0001c0004t0003g0371 a0001c0004t0003g0372 a0001c0004t0003g0373 a0001c0004t0003g0400 a0001c0004t0013g0387 a0001c0004t0013g0388 a0001c0005t0006g0288 a0001c0005t0006g0309 a0001c0005t0006g0312 a0001c0005t0006g0321 a0001c0005t0006g0350 a0001c0005t0006g0358 a0001c0005t0006g0377 a0001c0005t0008g0375 a0001c0006t0008g0374 a0001c0006t0008g0383 a0001c0006t0008g0385 a0001c0007t0002g0329 a0001c0008t0002g0307 a0001c0008t0002g0409 a0001c0008t0002g0410 a0001c0009t0006g0397 a0001c0009t0006g0398 a0001c0009t0006g0399 a0001c0013t0003g0391 a0001c0013t0003g0393 a0001c0014t0006g0376 a0001c0014t0006g0378 a0001c0019t0011g0411 a0001c0020t0003g0353 a0001c0021t0003g0277 a0001c0022t0003g0396 a0003c0018t0002g0225 a0004c0023t0002g0297	211	446	0.4731	-53	c.355 others(69): Show c.355+965_355+1017delTAGAGTACTCTAGCTGAAAGCATGCGTGT GTCACAGACCGTTCAGAGGGGCTA	CDK11B	ENSG00000248333.9	transcript	ENST00000341832.11	protein_coding	4/19			chr1	TogoVar
CDK16_chrX_47213681_47234997	47233763	CTGAGGGG others(46): Show CTGAGGGGCGTGCTCTGAGGCCGAGGGACGACAGTGGAGGGGAGGTGGTG CCTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp1 others(133): Show HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp2 HG01934.hp1 HG01952.hp1 HG01978.hp2 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02273.hp1 HG02293.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG02896.hp2 HG03017.hp1 HG03490.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18946.hp2 NA18947.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18988.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19062.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19076.hp1 NA19079.hp1 NA19080.hp2 NA19084.hp2 NA19086.hp1 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0002c0003 a0003c0004 others(3): Show a0001c0001 a0002c0003 a0003c0004 a0004c0005 a0005c0006 a0006c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0002c0003t0001 a0003c0004t0015 a0004c0005t0001 a0005c0006t0001 a0006c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(43): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0090 a0001c0001t0003g0007 a0001c0001t0003g0076 a0001c0001t0010g0018 a0001c0001t0010g0026 a0001c0001t0010g0091 a0001c0001t0019g0029 a0001c0001t0020g0001 a0001c0001t0021g0069 a0002c0003t0001g0001 a0003c0004t0015g0042 a0004c0005t0001g0070 a0005c0006t0001g0049 a0006c0007t0001g0001	136	312	0.4359	-53	c.49 others(64): Show c.4996_*5048delTGAGGGGCGTGCTCTGAGGCCGAGGGACGACAGT GGAGGGGAGGTGGTGCCTA	CDK16	ENSG00000102225.17	transcript	ENST00000357227.9	protein_coding		3767		chrX	TogoVar
CECR2_chr22_17364460_17563151	17419517	GAAGAAGA others(46): Show GAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAGGAGGAGGAGGAGGA AGAA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02717.hp2 HG06807.hp2 HG02145.hp1 HG02717.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0069 a0001c0001t0005 a0001c0001t0009 a0001c0001t0069	a0001c0001t0005g0050 a0001c0001t0009g0187 a0001c0001t0069g0265 a0001c0001t0005g0050 a0001c0001t0009g0187 a0001c0001t0069g0265	3	324	0.0093	-53	c.126 others(72): Show c.126+49622_126+49674delGGAAGAGGAAGAGGAAGAGGAGGAGG AGGAGGAGGAAGAAAAGAAGAAGAAGA	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CENPM_chr22_41933737_41952152	41939220	AGTGAGAT others(46): Show AGTGAGATAGAATGCTGGCCCTGCTCCCTTACCCAGAGCAGCTGCAGGGG CTGC	A A	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0137 a0001c0003t0002g0137	1	258	0.0039	-53	c.403 others(66): Show c.403-77_403-25delGCAGCCCCTGCAGCTGCTCTGGGTAAGGGAGC AGGGCCAGCATTCTATCTCAC	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CEP104_chr1_3807086_3862211	3834252	CATCTTCC others(46): Show CATCTTCCCTTCATACCGAGTATCTAACATCCCTGCTTCAATGGGTAAGC CCAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00438.hp1 others(140): Show HG00280.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02622.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG03017.hp1 HG03041.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18945.hp1 NA18946.hp1 NA18950.hp1 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18985.hp2 NA18990.hp2 NA18993.hp1 NA18997.hp1 NA18998.hp1 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19058.hp2 NA19060.hp2 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA19086.hp1 NA19087.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0008 a0018	a0001c0006 a0002c0002 a0002c0005 others(4): Show a0001c0006 a0002c0002 a0002c0005 a0002c0012 a0007c0011 a0008c0013 a0018c0010	a0001c0006t0006 a0001c0006t0021 a0002c0002t0001 others(10): Show a0001c0006t0006 a0001c0006t0021 a0002c0002t0001 a0002c0002t0011 a0002c0002t0022 a0002c0002t0023 a0002c0002t0024 a0002c0002t0025 a0002c0005t0001 a0002c0012t0001 a0007c0011t0001 a0008c0013t0001 a0018c0010t0006	a0001c0006t0006g0124 a0001c0006t0006g0126 a0001c0006t0006g0127 others(112): Show a0001c0006t0006g0124 a0001c0006t0006g0126 a0001c0006t0006g0127 a0001c0006t0006g0128 a0001c0006t0006g0129 a0001c0006t0006g0130 a0001c0006t0006g0131 a0001c0006t0006g0132 a0001c0006t0006g0133 a0001c0006t0021g0117 a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0010 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0039 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0044 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0116 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0011g0134 a0002c0002t0011g0135 a0002c0002t0011g0136 a0002c0002t0022g0084 a0002c0002t0023g0091 a0002c0002t0024g0115 a0002c0002t0025g0076 a0002c0005t0001g0005 a0002c0005t0001g0018 a0002c0005t0001g0033 a0002c0005t0001g0034 a0002c0005t0001g0038 a0002c0005t0001g0040 a0002c0005t0001g0045 a0002c0005t0001g0069 a0002c0005t0001g0070 a0002c0005t0001g0107 a0002c0005t0001g0111 a0002c0012t0001g0043 a0007c0011t0001g0049 a0008c0013t0001g0055 a0018c0010t0006g0125	143	382	0.3744	-53	c.148 others(70): Show c.1486-270_1486-218delTTGGGCTTACCCATTGAAGCAGGGATGT TAGATACTCGGTATGAAGGGAAGAT	CEP104	ENSG00000116198.14	transcript	ENST00000378230.8	protein_coding	11/21			chr1	TogoVar
CEP72_chr5_607340_658553	649451	GGACTGTG others(46): Show GGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGTGTGGACTGTGAG GTGT	G G	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA19065.hp1 NA18971.hp1 NA19065.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0002 a0004c0004t0003g0002	2	91	0.0220	-53	c.177 others(72): Show c.1778+1563_1778+1615delACTGTGAGGTGTGGACTGTGAGGTGT GACTGTGAGGTGTGACTGTGAGGTGTG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP299_chr4_80330730_80968750	80800445	GATATATT others(46): Show GATATATTAATATAATATATAATATATAATATATTATATAATATATAATA TATA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00642.hp1 HG00738.hp1 others(11): Show HG00408.hp2 HG00642.hp1 HG00738.hp1 HG02040.hp1 HG02071.hp2 HG02523.hp2 HG03017.hp2 HG03130.hp1 NA18963.hp1 NA18964.hp1 NA18984.hp1 NA19060.hp1 NA19085.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 others(11): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0002g0030 a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0008 a0002c0002t0001g0012 a0002c0002t0001g0045	14	96	0.1458	-53	c.334 others(72): Show c.334-69539_334-69487delATATAATATATAATATATAATATATT ATATAATATATAATATATAATATATTA	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP299_chr4_80330730_80968750	80800497	TAATATAT others(46): Show TAATATATTATATAATATATAATATATAATATATTATATAATATATAATA TATC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0022 a0001c0004t0001g0022	1	96	0.0104	-53	c.334 others(72): Show c.334-69476_334-69424delAATATATAATATATTATATAATATAT AATATATCAATATATTATATAATATAT	CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP44_chr3_113281930_113446493	113396846	TTATATCA others(46): Show TTATATCACTTTCTGGTAACCTCTATCCATTCCAGCATAGTTCCTTATAA CCAA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0338 a0001c0001t0009g0338	1	348	0.0029	-53	c.157 others(70): Show c.1570-172_1570-120delTTGGTTATAAGGAACTATGCTGGAATGG ATAGAGGTTACCAGAAAGTGATATA	CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	13/34			chr3	TogoVar
CFAP97D2_chr13_114174257_114228085	114176874	ATGGGTGG others(46): Show ATGGGTGGACAGCATGGGTGACAGCTGTGGGTGGACAGCTGTGGGTGACA GCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00621.hp2 HG00733.hp1 others(56): Show HG00408.hp2 HG00621.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01106.hp2 HG01167.hp1 HG01192.hp1 HG01255.hp1 HG01433.hp1 HG01891.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02602.hp1 HG02698.hp1 HG02698.hp2 HG02818.hp1 HG02895.hp1 HG02922.hp2 HG03041.hp2 HG03130.hp2 HG03209.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG04199.hp2 HG04204.hp2 NA18940.hp2 NA18942.hp2 NA18954.hp2 NA18959.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18972.hp1 NA18973.hp2 NA18977.hp2 NA18982.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA19000.hp2 NA19005.hp1 NA19012.hp1 NA19030.hp1 NA19057.hp1 NA19062.hp2 NA19082.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0004t0001 a0002c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0026 others(49): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0007g0041 a0001c0002t0001g0197 a0001c0002t0001g0199 a0001c0004t0001g0053 a0002c0003t0001g0063	59	400	0.1475	-53	c.-24 others(64): Show c.-2456_-2404delTGGGTGGACAGCATGGGTGACAGCTGTGGGTGGA CAGCTGTGGGTGACAGCCG	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding		2382		chr13	TogoVar
CHCHD6_chr3_126699240_126965420	126863048	CCTCCTCC others(46): Show CCTCCTCCTCCTCCTCCACCATCATCACCTCCTCCTCCTCCTCCACCATC ACCA	C C	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0010	1	216	0.0046	-53	c.495 others(72): Show c.495+10320_495+10372delTCCTCCTCCTCCTCCACCATCATCAC CTCCTCCTCCTCCTCCACCATCACCAC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126863053	TCCTCCTC others(46): Show TCCTCCTCCTCCACCATCATCACCTCCTCCTCCTCCTCCACCATCACCAC CTCC	T T	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0022	1	216	0.0046	-53	c.495 others(72): Show c.495+10324_495+10376delCCTCCTCCTCCACCATCATCACCTCC TCCTCCTCCTCCACCATCACCACCTCC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7			chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126863057	CCTCCTCC others(46): Show CCTCCTCCACCATCATCACCTCCTCCTCCTCCTCCACCATCACCACCTCC TCCT	C C	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	216	0.0046	-53	c.495 others(72): Show c.495+10329_495+10381delTCCTCCACCATCATCACCTCCTCCTC CTCCTCCACCATCACCACCTCCTCCTC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126863101	ACCTCCTC others(46): Show ACCTCCTCCTCCTCCTCCACCATCATCACCTCCTCCTCCTCCTCCACCAT CACC	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	216	0.0046	-53	c.495 others(72): Show c.495+10372_495+10424delCCTCCTCCTCCTCCTCCACCATCATC ACCTCCTCCTCCTCCTCCACCATCACC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7			chr3	TogoVar
CHFR_chr12_132827356_132892605	132874601	AGAACAGG others(46): Show AGAACAGGCGGGACTGCCCAGGACCAGCACCCAGCGCGGGGAAGCCAGGC CCCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(83): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01081.hp2 HG01106.hp2 HG01168.hp2 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02129.hp2 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02293.hp2 HG02523.hp2 HG02602.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03490.hp1 HG03540.hp1 HG03654.hp1 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 NA18906.hp1 NA18946.hp1 NA18951.hp1 NA18956.hp2 NA18963.hp1 NA18973.hp2 NA18984.hp2 NA18990.hp1 NA18994.hp1 NA18998.hp1 NA19004.hp2 NA19055.hp1 NA19058.hp2 NA19063.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19240.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0010 a0003c0003 others(1): Show a0001c0001 a0001c0010 a0003c0003 a0003c0008	a0001c0001t0006 a0001c0001t0012 a0001c0001t0033 others(27): Show a0001c0001t0006 a0001c0001t0012 a0001c0001t0033 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0072 a0001c0001t0143 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0147 a0001c0001t0148 a0001c0001t0149 a0001c0001t0150 a0001c0001t0151 a0001c0001t0152 a0001c0001t0153 a0001c0010t0033 a0003c0003t0001 a0003c0003t0019 a0003c0003t0020 a0003c0003t0037 a0003c0003t0063 a0003c0003t0066 a0003c0003t0067 a0003c0003t0068 a0003c0003t0069 a0003c0008t0019	a0001c0001t0006g0126 a0001c0001t0006g0132 a0001c0001t0006g0134 others(81): Show a0001c0001t0006g0126 a0001c0001t0006g0132 a0001c0001t0006g0134 a0001c0001t0006g0135 a0001c0001t0006g0137 a0001c0001t0006g0138 a0001c0001t0006g0139 a0001c0001t0006g0145 a0001c0001t0006g0147 a0001c0001t0006g0150 a0001c0001t0006g0152 a0001c0001t0012g0002 a0001c0001t0012g0123 a0001c0001t0012g0125 a0001c0001t0012g0148 a0001c0001t0012g0168 a0001c0001t0033g0129 a0001c0001t0033g0149 a0001c0001t0050g0130 a0001c0001t0050g0136 a0001c0001t0051g0146 a0001c0001t0051g0153 a0001c0001t0052g0169 a0001c0001t0052g0170 a0001c0001t0053g0141 a0001c0001t0053g0151 a0001c0001t0072g0352 a0001c0001t0143g0124 a0001c0001t0144g0127 a0001c0001t0145g0312 a0001c0001t0146g0131 a0001c0001t0147g0133 a0001c0001t0148g0143 a0001c0001t0149g0142 a0001c0001t0150g0144 a0001c0001t0151g0140 a0001c0001t0152g0154 a0001c0001t0153g0155 a0001c0010t0033g0128 a0003c0003t0001g0052 a0003c0003t0001g0053 a0003c0003t0001g0313 a0003c0003t0001g0314 a0003c0003t0001g0315 a0003c0003t0001g0316 a0003c0003t0001g0317 a0003c0003t0001g0318 a0003c0003t0001g0325 a0003c0003t0001g0326 a0003c0003t0001g0327 a0003c0003t0001g0328 a0003c0003t0001g0329 a0003c0003t0001g0330 a0003c0003t0001g0331 a0003c0003t0001g0332 a0003c0003t0001g0333 a0003c0003t0001g0334 a0003c0003t0001g0335 a0003c0003t0001g0337 a0003c0003t0001g0339 a0003c0003t0001g0340 a0003c0003t0001g0341 a0003c0003t0001g0342 a0003c0003t0001g0343 a0003c0003t0001g0344 a0003c0003t0001g0353 a0003c0003t0001g0354 a0003c0003t0001g0355 a0003c0003t0001g0356 a0003c0003t0019g0346 a0003c0003t0019g0351 a0003c0003t0020g0319 a0003c0003t0020g0320 a0003c0003t0020g0322 a0003c0003t0020g0324 a0003c0003t0037g0347 a0003c0003t0037g0348 a0003c0003t0063g0345 a0003c0003t0066g0338 a0003c0003t0067g0336 a0003c0003t0068g0321 a0003c0003t0069g0323 a0003c0008t0019g0349 a0003c0008t0019g0350	86	378	0.2275	-53	c.234 others(70): Show c.234-2260_234-2208delCGGGGCCTGGCTTCCCCGCGCTGGGTGC TGGTCCTGGGCAGTCCCGCCTGTTC	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	3/17			chr12	TogoVar
CHFR_chr12_132827356_132892605	132874901	GCGGGGAA others(46): Show GCGGGGAAGCCAGGCCCTGATGTAGGCGGGAAAGCCCAGGACCAGCACCC AGCA	G G	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0103	a0001c0001t0103g0274 a0001c0001t0103g0274	1	378	0.0027	-53	c.234 others(70): Show c.234-2560_234-2508delTGCTGGGTGCTGGTCCTGGGCTTTCCCG CCTACATCAGGGCCTGGCTTCCCCG	CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding	3/17			chr12	TogoVar
CHRM3_chr1_239381568_239920450	239414003	GTTCCTGA others(46): Show GTTCCTGATGGAAAGAATTTGAGTTTTAGACTTCGCTAGGCCCTTGTCGT TTGT	G G	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	116	0.0086	-53	c.-52 others(74): Show c.-521+26777_-521+26829delTTCCTGATGGAAAGAATTTGAGTT TTAGACTTCGCTAGGCCCTTGTCGTTTGT	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	1/6			chr1	TogoVar
CHRM3_chr1_239381568_239920450	239732335	GTATACCT others(46): Show GTATACCTAATATCTCACTTAGATAAGTATACCTAATATCTCACTTAGAT AAGT	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA19030.hp2 HG03041.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0035 a0001c0001t0021 a0001c0001t0035	a0001c0001t0021g0019 a0001c0001t0035g0026 a0001c0001t0021g0019 a0001c0001t0035g0026	2	116	0.0172	-53	c.-14 others(74): Show c.-147+54048_-147+54100delTATACCTAATATCTCACTTAGATA AGTATACCTAATATCTCACTTAGATAAGT	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	5/6			chr1	TogoVar
CIDEA_chr18_12249361_12282595	12280885	TGGCCAGC others(46): Show TGGCCAGCACCTTTCTCTACCATCACCTCCACGGGGACAGCTATTCCTTG CTAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	448	0.0022	-53	c.36 others(64): Show c.3616_*3668delGGCCAGCACCTTTCTCTACCATCACCTCCACGGG GACAGCTATTCCTTGCTAG	CIDEA	ENSG00000176194.18	transcript	ENST00000320477.10	protein_coding		3291		chr18	TogoVar
CLCA4_chr1_86542078_86585754	86553936	AAAAAAAA others(46): Show AAAAAAAAAGTTTGTGTGTCAATGTATGACCCATAGTGTCTTCTTTTCTT TTCT	A A	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0174 a0001c0008t0001g0174	1	334	0.0030	-53	c.160 others(70): Show c.160-5995_160-5943delAAAAAAAAGTTTGTGTGTCAATGTATGA CCCATAGTGTCTTCTTTTCTTTTCT	CLCA4	ENSG00000016602.9	transcript	ENST00000370563.3	protein_coding	1/13			chr1	TogoVar
CLDN8_chr21_30209006_30221097	30210520	CATATATA others(46): Show CATATATATATATATATATAGTCTCCCTAATTCTAATTCAAGGTATATAT ATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA19054.hp1 NA18962.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	466	0.0043	-53	c.46 others(64): Show c.4675_*4727delATATATATATACCTTGAATTAGAATTAGGGAGAC TATATATATATATATATAT	CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding		3485		chr21	TogoVar
CLEC19A_chr16_19280731_19315947	19280794	GAGACCAG others(46): Show GAGACCAGCCTGCCCAGCATGGTGAGACCCCCATCTCTACTAAAAATACA AAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0114 a0001c0002t0001g0114	1	426	0.0024	-53	c.-50 others(64): Show c.-5057_-5005delAGACCAGCCTGCCCAGCATGGTGAGACCCCCATC TCTACTAAAAATACAAAAA	CLEC19A	ENSG00000261210.8	transcript	ENST00000636231.2	protein_coding		4936		chr16	TogoVar

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