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
BTAF1_chr10_91918770_92036437	92012233	C C	CCTCCTCC others(232): Show CCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTTC TCCCCTCCCCTTCTCCCCTCCCCTTCTCCCCTCCCCTCCCTTCCCCTCCT CCCCTCCCCTCCCCTCCCCTCCCCCTGTATCTCCTCCCCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp2 HG00673.hp2 others(19): Show HG00140.hp2 HG00544.hp2 HG00673.hp2 HG01496.hp2 HG02074.hp2 NA18952.hp1 NA18964.hp1 NA18966.hp1 NA18968.hp1 NA18975.hp2 NA18981.hp2 NA18988.hp2 NA18992.hp1 NA18994.hp1 NA18999.hp1 NA19001.hp2 NA19003.hp2 NA19054.hp1 NA19065.hp1 NA19077.hp2 NA19086.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 others(19): Show a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0188 a0001c0001t0003g0194 a0001c0001t0003g0199 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0208 a0001c0001t0003g0211 a0001c0001t0003g0215 a0001c0001t0003g0219 a0001c0001t0003g0221 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0006g0178 a0001c0001t0006g0217	22	330	0.0667	239	c.431 others(256): Show c.4311+822_4311+823insTCCCCTCCCCTCCTCCCCTCCCCTCCCC TCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCCCTTCTCCCCTCCCCTTCTCCCCTCCCCTTCTCCCCTC CCCTCCCTTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCCCCTGTATCTC CTCCCCTCTCC	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABLES2_chr20_62383634_62412285	62398084	G G	GGTGATGG others(232): Show GGTGATGGTGGTGGTGGTGGTGGTTATGACGGTGGTGATGGTGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGACAGTGATGGTGATGGTG GTGATGGCGATGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGTTATGACGGTGGTGATGGTGGTGGTGGTGGTGACGGTGATGGTGGTAA TGGTGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	400	0.0025	239	c.363 others(256): Show c.363-1493_363-1492insATCACCATCACCACCATCATCACCATCA CCACCACCACCATTACCACCATCACCGTCACCACCACCACCACCATCACC ACCGTCATAACCACCACCACCACCATCACCACCACCACCACCACCATCAC CATCGCCATCACCACCATCACCATCACTGTCACCACCACCACCACCATCA CCACCACCACCACCACCACCACCATCACCACCGTCATAACCACCACCACC ACCACCATCAC	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CACNA1I_chr22_39565753_39694735	39601998	T T	TTCCTTCC others(232): Show TTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCCTCCTTCCT TCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCT CTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02886.hp1 HG03209.hp2 others(1): Show HG02109.hp1 HG02886.hp1 HG03209.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0014 a0001c0023 others(1): Show a0001c0002 a0001c0014 a0001c0023 a0001c0051	a0001c0002t0031 a0001c0014t0030 a0001c0023t0010 others(1): Show a0001c0002t0031 a0001c0014t0030 a0001c0023t0010 a0001c0051t0001	a0001c0002t0031g0200 a0001c0014t0030g0129 a0001c0023t0010g0130 others(1): Show a0001c0002t0031g0200 a0001c0014t0030g0129 a0001c0023t0010g0130 a0001c0051t0001g0194	4	236	0.0170	239	c.482 others(256): Show c.482+1348_482+1349insTTCCCTCCCTCCCTCCCTCCCTTCCTTC CTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCT CCCTCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCC CTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCCTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CAMSAP1_chr9_135803487_135912546	135847949	G G	GGGGAAGG others(232): Show GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGG GGGGAAGGGGAGGGGAGTGGGGGGAAGGGGAGGGGAGTGGGGGGAAGGGG AGGGGAGTGGGGGAGGGGAGTGGGGACGGGAGTGGGGGGAAGGGGAGGGG AGTGGGGGGAGGGGGGCAGGGAAGGGGAAGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG01109.hp1 others(22): Show HG00140.hp2 HG00735.hp2 HG01109.hp1 HG02055.hp1 HG02135.hp1 HG02559.hp2 HG02698.hp1 HG02886.hp2 HG03098.hp1 HG03130.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03540.hp1 HG03710.hp1 HG03927.hp2 NA18522.hp1 NA18612.hp2 NA18954.hp1 NA18969.hp1 NA18995.hp2 NA19000.hp1 NA19043.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0002t0021 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0021 a0001c0002t0031 a0001c0003t0001 a0001c0007t0001 a0001c0009t0002 a0001c0009t0011	a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0051 others(22): Show a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0061 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0098 a0001c0001t0001g0109 a0001c0001t0001g0119 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0002t0021g0290 a0001c0002t0031g0297 a0001c0003t0001g0140 a0001c0003t0001g0179 a0001c0003t0001g0262 a0001c0007t0001g0134 a0001c0007t0001g0135 a0001c0009t0002g0335 a0001c0009t0011g0337 a0001c0009t0011g0338	25	340	0.0735	239	c.104 others(258): Show c.1045+2187_1045+2188insTCCCCCTCCCCTTCCCCTTCCCTGCC CCCCTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCGTCCCCACTCCCC TCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTC CCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTT CCCCCCACTCCCCTCCCCTTCCCCCCACTCCCCTCCCCTTCCCCCCACTC CCCTCCCCTTCCC	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	7/16			chr9	TogoVar
CAMTA1_chr1_6780454_7774706	6937556	T T	TCATCACG others(232): Show TCATCACGATCACCATCACCATTCACCACTTACCACCACCATCATCACCA TCACCATCATCATCACCACTACCATCATCACCATCACCATCACCATTCAC CACTTACCACCACCATCATCACCATCACCATCACCATTCACCACTTACCA CCACCATCATCACCATCACCATCACCATTCACCACTTACCACCATCATCA CCATCACCATCATCATCACCACTACCATCATCACCATCAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0034 a0001c0001t0004g0034	1	58	0.0172	239	c.234 others(260): Show c.234+112352_234+112353insGATCACCATCACCATTCACCACTT ACCACCACCATCATCACCATCACCATCATCATCACCACTACCATCATCAC CATCACCATCACCATTCACCACTTACCACCACCATCATCACCATCACCAT CACCATTCACCACTTACCACCACCATCATCACCATCACCATCACCATTCA CCACTTACCACCATCATCACCATCACCATCATCATCACCACTACCATCAT CACCATCACCATCAC	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CARD10_chr22_37485362_37524415	37509995	A A	ACCCCCCA others(232): Show ACCCCCCACCCCCGTGCCCATGGGCCCCAGCCCTGGTACCTGCTGCAGGC CCTCCTGACCTCCTGCCAGCCTGTGCCCACAAGCCCCAGCCCTGGTACCT ACCGCAGGCCCTCCTGACCACCCCCCACCCCCGTGCCCATGGGCCCCAGC CCTGGTACCTGCTGCAGGCCCTCCTGACCTCCTGCCAGCCTGTGCCCACA AGCCCCAGCCCTGGTACCTACCGCAGGCCCTCCTGACCAC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0090 a0002c0001t0001g0090	1	276	0.0036	239	c.909 others(254): Show c.909+216_909+217insGTGGTCAGGAGGGCCTGCGGTAGGTACCAG GGCTGGGGCTTGTGGGCACAGGCTGGCAGGAGGTCAGGAGGGCCTGCAGC AGGTACCAGGGCTGGGGCCCATGGGCACGGGGGTGGGGGGTGGTCAGGAG GGCCTGCGGTAGGTACCAGGGCTGGGGCTTGTGGGCACAGGCTGGCAGGA GGTCAGGAGGGCCTGCAGCAGGTACCAGGGCTGGGGCCCATGGGCACGGG GGTGGGGGG	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	4/19			chr22	TogoVar
CASP8_chr2_201255536_201292709	201284695	G G	GGAGAGGG others(232): Show GGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGAGACGGGG AGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAG GCGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAG GGAGAGGGAGACGAGAGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01168.hp2 HG01433.hp2 HG00741.hp1 HG01168.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0205 a0001c0001t0005g0207 a0001c0001t0005g0209 a0001c0001t0005g0205 a0001c0001t0005g0207 a0001c0001t0005g0209	3	386	0.0078	239	c.803 others(254): Show c.803-120_803-119insAGAGGGAGACGGGAGACGGGGAGAGGGAGA GGGAGACGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGG AGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAC GGGGAGAGGGAGAGGGAGGCGGGGAGAGGGAGAGGGAGACGGGGAGAGGG AGAGGGAGACGGGGAGAGGGAGAGGGAGACGAGAGGGAGAGGGAGAGGGA GAGGGAGAG	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CASQ2_chr1_115695021_115773714	115761402	A A	AAGAAGAA others(232): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGA AGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGG GAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGA GAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0043	1	364	0.0028	239	c.234 others(256): Show c.234+6905_234+6906insCTTCTTCCTCTCCTTCTCCTTCTCCTTC TTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCT TCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(232): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGA AGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGG GAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0317 a0002c0003t0001g0317	1	364	0.0028	239	c.234 others(256): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTC CCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(232): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGG GGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG AGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0336 a0002c0004t0004g0336	1	364	0.0028	239	c.234 others(256): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCT CTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(232): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGG GGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAG AGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0341 a0002c0003t0003g0341	1	364	0.0028	239	c.234 others(256): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCT CTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(232): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAG AGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0313 a0002c0003t0001g0313	1	364	0.0028	239	c.234 others(256): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTT CTCCTTCTTCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(232): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGG GGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAG AGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18952.hp2 NA18988.hp2 HG03041.hp1 NA18952.hp2 NA18988.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0005 a0002c0003 a0003c0005	a0002c0003t0001 a0003c0005t0001 a0002c0003t0001 a0003c0005t0001	a0002c0003t0001g0304 a0003c0005t0001g0249 a0003c0005t0001g0254 a0002c0003t0001g0304 a0003c0005t0001g0249 a0003c0005t0001g0254	3	364	0.0082	239	c.234 others(256): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCT CTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(232): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAG AGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0337 a0002c0004t0002g0337	1	364	0.0028	239	c.234 others(256): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTT CTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(232): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGG GGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG AGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0242 a0003c0005t0001g0242	1	364	0.0028	239	c.234 others(256): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCT CTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(232): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGG GAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0045 a0001c0002t0001g0045	1	364	0.0028	239	c.234 others(256): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTC CCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTT CTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(232): Show AAGAAGAAGAAGAAGAGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGAGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGG AGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAATAAG AAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGGAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0146 a0001c0001t0005g0146	1	364	0.0028	239	c.234 others(256): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTCCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCT CTTCTTCTTCTTCTTATTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCT CCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CTCTCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCTCTT CTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(232): Show AAGAAGAAGAAGAGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GAAGGAGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGA GGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAG AAGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGGAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02273.hp1 HG01952.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0143 a0001c0001t0005g0144 a0001c0001t0005g0143 a0001c0001t0005g0144	2	364	0.0055	239	c.234 others(256): Show c.234+6868_234+6869insCTTCTTCTTCTTCTCCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CCTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCC TCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCTCTCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCT CTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGAA others(232): Show AAGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG GGGAGGGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAG AAGAAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0066	1	364	0.0028	239	c.234 others(256): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCC TCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTT CTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGAA others(232): Show AAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG GGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAG AAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0134 a0001c0002t0001g0134	1	364	0.0028	239	c.234 others(256): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCC TCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTT CTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CCDC141_chr2_178824757_179055137	179015551	C C	CATATATC others(232): Show CATATATCTCATATATATGATATATATCTCATATATCTCATATATATGAT ATATATATCTCATATATCTCATATATATGATATATATATCTCATATATCT CATATATATGATATATATATCTCATATATCTCATATATATGATATATATA TCTCATATATCTCATATATATGATATATATATCTCATATATCTCATATAT ATGATATATATATCTCATATATATGATATATATATCTCAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02615.hp2 HG02717.hp1 others(2): Show HG02257.hp1 HG02615.hp2 HG02717.hp1 HG03098.hp1 HG03486.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0002 a0006c0009t0009 a0006c0009t0076 a0001c0001t0002 a0006c0009t0009 a0006c0009t0076	a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0086 others(2): Show a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0086 a0006c0009t0009g0085 a0006c0009t0076g0083	5	274	0.0183	239	c.225 others(258): Show c.225+31732_225+31733insATGAGATATATATATCATATATATGA GATATATATATCATATATATGAGATATATGAGATATATATATCATATATA TGAGATATATGAGATATATATATCATATATATGAGATATATGAGATATAT ATATCATATATATGAGATATATGAGATATATATATCATATATATGAGATA TATGAGATATATATATCATATATATGAGATATATGAGATATATATCATAT ATATGAGATATAT	CCDC141	ENSG00000163492.16	transcript	ENST00000443758.7	protein_coding	2/23			chr2	TogoVar
CCDC88C_chr14_91266323_91422820	91293567	G G	GGCCCACC others(232): Show GGCCCACCTTCCTGCCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCC TCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCT TCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCA CGGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCC TCGCCTGCCACAGCTCACCTTCCCATCCTCACCTGCCACA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	284	0.0035	239	c.411 others(256): Show c.4112+605_4112+606insTGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAG GAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGC GAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGC CGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGGCA GGAAGGTGGGC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CD226_chr18_69848274_69952873	69894561	A A	AGGGAGGG others(232): Show AGGGAGGGGAGGGGAGGGGAGGGAGGGGAGGGGAGGGGAGGGAGGGAAGG GAGGGAAGGGAGGGAAGGGAGGGAAGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGCAGATGGGGGCAGGGGAGGGGAGTGGATGGGGGCAGGGGAGGGGA GGGGAGGGGGAGGGAGACCGGAAGGGGAGGGAGACGGGGAGGGGAGGGAG ACGGGGAGGGGGAGGGCAGGGGAGGGGAAGGGCAGGGGAG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0110 a0002c0002t0110	a0002c0002t0110g0193 a0002c0002t0110g0193	1	256	0.0039	239	c.727 others(256): Show c.727+1139_727+1140insCTCCCCTGCCCTTCCCCTCCCCTGCCCT CCCCCTCCCCGTCTCCCTCCCCTCCCCGTCTCCCTCCCCTTCCGGTCTCC CTCCCCCTCCCCTCCCCTCCCCTGCCCCCATCCACTCCCCTCCCCTGCCC CCATCTGCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTTCCCTCCCTTCC CTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCCTCCCCTCCCTCCCCTCC CCTCCCCTCCC	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	3/5			chr18	TogoVar
CD226_chr18_69848274_69952873	69894561	A A	AGGGGAGG others(232): Show AGGGGAGGGGAGGGAAGGGAGGGAAGGGAGGGAAGGGAGGGAAGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGCAGATGGGGGCAGGGGAGGGGAGTGGA TGGGGGCAGGGGAGGGGAGGGGAGGGGGAGGGAGACCGGAAGGGGAGGGA GACGGGGAGGGGAGGGAGACGGGGAGGGGGAGGGCAGGGGAGGGGAAGGG CAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0090 a0001c0001t0090	a0001c0001t0090g0054 a0001c0001t0090g0054	1	256	0.0039	239	c.727 others(256): Show c.727+1139_727+1140insCTCCCCTCCCCTTCCCCTCCCCTCCCCT TCCCCTCCCCTGCCCTTCCCCTCCCCTGCCCTCCCCCTCCCCGTCTCCCT CCCCTCCCCGTCTCCCTCCCCTTCCGGTCTCCCTCCCCCTCCCCTCCCCT CCCCTGCCCCCATCCACTCCCCTCCCCTGCCCCCATCTGCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTCC CTCCCCTCCCC	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	3/5			chr18	TogoVar
CD226_chr18_69848274_69952873	69894561	A A	AGGGGAGG others(232): Show AGGGGAGGGGAGGGAGGGGAGGGGAGGGGAGGGAGGGAAGGGAGGGAAGG GAGGGAAGGGAGGGAAGGGAGGGAAGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGCAGATGGGGGCAGGGGAGGGGAGTGGATGGGGGCAGGGGAGGGGA GGGGAGGGGGAGGGAGACCGGAAGGGGAGGGAGACGGGGAGGGGAGGGAG ACGGGGAGGGGGAGGGCAGGGGAGGGGAAGGGCAGGGGAG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0142 a0002c0002t0007g0142	1	256	0.0039	239	c.727 others(256): Show c.727+1139_727+1140insCTCCCCTGCCCTTCCCCTCCCCTGCCCT CCCCCTCCCCGTCTCCCTCCCCTCCCCGTCTCCCTCCCCTTCCGGTCTCC CTCCCCCTCCCCTCCCCTCCCCTGCCCCCATCCACTCCCCTCCCCTGCCC CCATCTGCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTTCCCTCCCTTCC CTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCCTCCCCTCC CTCCCCTCCCC	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	3/5			chr18	TogoVar
CD226_chr18_69848274_69952873	69894561	A A	AGGGGAGG others(232): Show AGGGGAGGGGAGGGGAGGGAGGGAAGGGAGGGAAGGGAGGGAAGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGCAGATGGGGGCAGGGGAGGGGAGTGGA TGGGGGCAGGGGAGGGGAGGGGAGGGGGAGGGAGACCGGAAGGGGAGGGA GACGGGGAGGGGAGGGAGACGGGGAGGGGGAGGGCAGGGGAGGGGAAGGG CAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0030 a0002c0002t0030	a0002c0002t0030g0053 a0002c0002t0030g0053	1	256	0.0039	239	c.727 others(256): Show c.727+1139_727+1140insCTCCCCTCCCCTTCCCCTCCCCTCCCCT TCCCCTCCCCTGCCCTTCCCCTCCCCTGCCCTCCCCCTCCCCGTCTCCCT CCCCTCCCCGTCTCCCTCCCCTTCCGGTCTCCCTCCCCCTCCCCTCCCCT CCCCTGCCCCCATCCACTCCCCTCCCCTGCCCCCATCTGCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCC CTCCCCTCCCC	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	3/5			chr18	TogoVar
CENPJ_chr13_24877279_24927861	24881964	A A	ATATAGAT others(232): Show ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA18988.hp2 NA18962.hp1 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0046 a0001c0002t0001g0020 a0001c0002t0001g0046	2	440	0.0046	239	c.12 others(250): Show c.1212_*1213insGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATG TATCTATATATAGATGTATCTATATATAGATGATGTATCTATATATAGAT GTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGT ATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTAT CTATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		314		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881982	A A	ATATAGAT others(232): Show ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0156 a0001c0002t0001g0156	1	440	0.0023	239	c.11 others(250): Show c.1194_*1195insGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATG TATCTATATATAGATGTATCTATATATAGATGATGTATCTATATATAGAT GTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGT ATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTAT CTATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		296		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24882090	A A	ATATAGAT others(232): Show ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTAGATATATAGATACATCATCTATATAGATATATAGATA CATCTATATAGATATATAGATACATCTATATAGATATATAATCTATATAG ATACATCTATATAGATATATAATCTATATAGCTATATAGATACATCTATA TAGCTATATAGATACATCTATATAGCTATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 NA18965.hp1 HG02135.hp2 NA18965.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0016 a0002c0003t0003g0111 a0002c0003t0003g0016 a0002c0003t0003g0111	2	440	0.0046	239	c.10 others(250): Show c.1086_*1087insGATGTATCTATATAGCTATATAGATGTATCTATA TAGCTATATAGATGTATCTATATAGCTATATAGATTATATATCTATATAG ATGTATCTATATAGATTATATATCTATATAGATGTATCTATATATCTATA TAGATGTATCTATATATCTATATAGATGATGTATCTATATATCTAGATGT ATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTAT CTATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		188		chr13	TogoVar
CLIC5_chr6_45893456_46020860	45904647	C C	CCTCCCTC others(232): Show CCTCCCTCCCTCCCTCTCTCCTTCCCTCCCTCCCTCTCTCCTTCCCTCCC TCCCTCTCTCCTTCCCTCCCTCCCTCTCTCCTTCCCTCCCTCCCTCTTTT CTGTCCCTCCCTCCCTCCCTCTCTCCTTCCCTCCCTCCCTCTCTCCTTCC CTCCCTCCCTCTCTCCTTCCCTCCCTCCCTCTCTCCTTCCCTCCCTCCCT CTCTCCTTCCCTCCCTCCCTCCTTCTCTCCTTCCCTCCTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00639.hp2 others(44): Show HG00438.hp2 HG00544.hp2 HG00639.hp2 HG00673.hp2 HG00733.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp2 HG01123.hp2 HG01261.hp2 HG01515.hp2 HG01952.hp2 HG02004.hp2 HG02055.hp2 HG02056.hp1 HG02132.hp2 HG02148.hp2 HG02273.hp1 HG03017.hp1 HG03710.hp2 HG03831.hp1 NA18747.hp2 NA18942.hp1 NA18952.hp1 NA18961.hp1 NA18961.hp2 NA18964.hp2 NA18965.hp2 NA18967.hp2 NA18969.hp2 NA18971.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp2 NA18989.hp1 NA19002.hp2 NA19010.hp1 NA19012.hp2 NA19066.hp2 NA19070.hp2 NA19078.hp2 NA19080.hp2 NA19083.hp2 NA19086.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0028 others(1): Show a0001c0001t0001 a0001c0001t0025 a0001c0001t0028 a0001c0001t0032	a0001c0001t0001g0004 a0001c0001t0001g0047 a0001c0001t0001g0054 others(44): Show a0001c0001t0001g0004 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0115 a0001c0001t0001g0122 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0156 a0001c0001t0001g0162 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0203 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0230 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0260 a0001c0001t0001g0280 a0001c0001t0001g0303 a0001c0001t0001g0314 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0025g0243 a0001c0001t0028g0141 a0001c0001t0032g0149	47	340	0.1382	239	c.589 others(256): Show c.589-1393_589-1392insAAGGAGGGAAGGAGAGAAGGAGGGAGGG AGGGAAGGAGAGAGGGAGGGAGGGAAGGAGAGAGGGAGGGAGGGAAGGAG AGAGGGAGGGAGGGAAGGAGAGAGGGAGGGAGGGAAGGAGAGAGGGAGGG AGGGAGGGACAGAAAAGAGGGAGGGAGGGAAGGAGAGAGGGAGGGAGGGA AGGAGAGAGGGAGGGAGGGAAGGAGAGAGGGAGGGAGGGAAGGAGAGAGG GAGGGAGGGAG	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	5/5			chr6	TogoVar
COL19A1_chr6_69861556_70217468	69921450	A A	ATATCATA others(232): Show ATATCATATATATCATATATATCATATATCATATATATCATATATATCAT ATATATCATATATATCATATATATCATATATATCATATATCATATATATC ATATATATCATATATATCATATATATCATATATCATATATATCATATATA TTCATATATTCATATATATCATATATATTCATATATTCATATATATCATA TATATTCATATATTCATATATATCATATATATTCATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0073	1	182	0.0055	239	c.267 others(256): Show c.267-6458_267-6457insATCATATATATCATATATATCATATATC ATATATATCATATATATCATATATATCATATATATCATATATATCATATA TATCATATATCATATATATCATATATATCATATATATCATATATATCATA TATCATATATATCATATATATTCATATATTCATATATATCATATATATTC ATATATTCATATATATCATATATATTCATATATTCATATATATCATATAT ATTCATATATT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL20A1_chr20_63288186_63339806	63294164	G G	GGGGGAGT others(232): Show GGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGTGGGGGGG AGGGGAGTGCGGGGGGAGGGGGGAGTGCAGGGGGGAGGGGAGTGCGGGGG GAGGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGG GGGGGAGGGGAGTGCGGGGGGAGGGGAGTGCAGGGGAGCGGAGTGTGGGG GAAGGGGGAGTGCGGGGGGAAGCGGGGGCTGCCGAGGAGC	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	290	0.0035	239	c.-11 others(254): Show c.-11+892_-11+893insGAGTGCGGGGGGAGGGGGAGTGCGGGGGGA GGGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGAGGGGGGAGTGCAGGGGG GAGGGGAGTGCGGGGGGAGGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGG GGAGGGGGAGTGTGGGGGGGGAGGGGAGTGCGGGGGGAGGGGAGTGCAGG GGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAAGCGGGGGCTGCCG AGGAGCGGG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL27A1_chr9_114150537_114317511	114173243	C C	CGATCAGG others(232): Show CGATCAGGCCACTGGCATTTGCCCGTGCTTGCACTTTTTGCAAATGTCCC CTCGGGAAGACGCCGCTAAGGGCCTGGCCCACACCACGTGCTCTGTGACT ATCTATCTATGAAATGAACAAAAGAATTTGATCCTTACGAAATGCAGGTC GTCCTGACTCCCAGGCGGGGTTCCTTGAGGTTACCCAGAACTCTCCTGCC AGGGAGATGAGGGAGGCGAGTCAAGGCCTTATTTATTCAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01981.hp1 HG02818.hp2 others(2): Show HG01496.hp2 HG01981.hp1 HG02818.hp2 HG03041.hp2 NA19240.hp2	a0010 a0055 a0010 a0055	a0010c0025 a0010c0048 a0010c0181 others(2): Show a0010c0025 a0010c0048 a0010c0181 a0010c0183 a0055c0185	a0010c0025t0003 a0010c0048t0006 a0010c0181t0001 others(2): Show a0010c0025t0003 a0010c0048t0006 a0010c0181t0001 a0010c0183t0001 a0055c0185t0001	a0010c0025t0003g0183 a0010c0048t0006g0175 a0010c0181t0001g0176 others(2): Show a0010c0025t0003g0183 a0010c0048t0006g0175 a0010c0181t0001g0176 a0010c0183t0001g0173 a0055c0185t0001g0171	5	308	0.0162	239	c.190 others(258): Show c.1908+3991_1908+3992insGAGGCGAGTCAAGGCCTTATTTATTC ATGATCAGGCCACTGGCATTTGCCCGTGCTTGCACTTTTTGCAAATGTCC CCTCGGGAAGACGCCGCTAAGGGCCTGGCCCACACCACGTGCTCTGTGAC TATCTATCTATGAAATGAACAAAAGAATTTGATCCTTACGAAATGCAGGT CGTCCTGACTCCCAGGCGGGGTTCCTTGAGGTTACCCAGAACTCTCCTGC CAGGGAGATGAGG	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	3/60		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAAG others(232): Show AAGGCAAGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGG GAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAAGAAGGGAGGGGGAAGGC AGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGG GGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	344	0.0029	239	c.85- others(256): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCTCCCTTCCTGCCTTCCCCCTCCC TTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTC CCCTCCCTTCCTGCCTTCCCCCTCCCTTCTTGCCTTCCCCCTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTC CCTTCTTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL9A3_chr20_62812050_62846159	62825130	A A	AGGGAGGG others(232): Show AGGGAGGGGCTGGGCTCCGGCGGTGGGGAGAGGCTGGGCTCCGGCGGGAG GGAGAGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGG AGGGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAG GGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGG GCTGGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	412	0.0024	239	c.630 others(254): Show c.630+131_630+132insTGGGGAGAGGCTGGGCTCCGGCGGGAGGGA GAGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGG GGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGG CTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGGGGCT GGGCTCCGGCGGGGGGGAGGGGCTGGGCTCCGGCGGGGGGAGGGGCTGGG CTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
CPNE7_chr16_89570758_89602246	89588069	C C	CGTGTCAC others(232): Show CGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACA GATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCC GCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCCCGTGTCACCCA CAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGC CCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0334 a0001c0001t0001g0334	1	348	0.0029	239	c.928 others(254): Show c.928-606_928-605insGTGTCACCCACAGATACACGGCCCCCGTGT CACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATAC ACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGT GTCACCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTG TCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCG TGTCACCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14			chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588206	G G	GCGTGTCA others(232): Show GCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCA CAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCC CCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCC GCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCAC AGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	348	0.0029	239	c.928 others(254): Show c.928-442_928-441insCGTGTCACCCGCGTGTCACCCACAGATACA CGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGT CACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCA CCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACCCACAGATACAC GGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATAC ACGGCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CREG1_chr1_167536013_167558762	167536857	T T	TAAAATTT others(232): Show TAAAATTTCATTGAGGGTCCTGGCTAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAG GCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0027 a0001c0003t0002g0027	1	418	0.0024	239	c.54 others(250): Show c.5440_*5441insTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCAC TGCAGCCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGACCCTCAATGAA ATTTT	CREG1	ENSG00000143162.9	transcript	ENST00000370509.5	protein_coding		4155		chr1	TogoVar
CSF2RA_chrX_1263814_1314935	1307586	C C	CTTCCCCC others(232): Show CTTCCCCCTTCAGCCTTTCGACTGATTAGATGAGGCCCACCCTCCCCCTT TATACCTTCGACTGATCAGATGAGGCCCACCCTCCCCTTTATACCTTCGA CTGATTAGATGAGGCCCACCCTCCCCTTTATACCTTCGACTGATTAGATG AAGCCCACCATTCTCCTTTATACCTTCGACTGATTAGATGAAGCCCACGC TTCTCCTTTGGACCTTCAACTGATTAGATGAGGCCCACCT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00639.hp2 HG01496.hp1 others(10): Show HG00423.hp1 HG00639.hp2 HG01496.hp1 HG01975.hp2 HG01981.hp2 HG02273.hp2 HG02683.hp2 HG03491.hp1 NA18966.hp2 NA18969.hp1 NA18973.hp2 NA19081.hp1 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0002t0006 a0002c0003t0001	a0001c0001t0001g0013 a0001c0001t0001g0025 a0001c0001t0001g0064 others(10): Show a0001c0001t0001g0013 a0001c0001t0001g0025 a0001c0001t0001g0064 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0086 a0001c0001t0001g0096 a0001c0001t0002g0069 a0001c0001t0003g0046 a0001c0001t0012g0062 a0001c0002t0006g0039 a0002c0003t0001g0147	13	159	0.0818	239	c.112 others(258): Show c.1126-1770_1126-1769insCTTTATACCTTCGACTGATCAGATGA GGCCCACCCTCCCCTTTATACCTTCGACTGATTAGATGAGGCCCACCCTC CCCTTTATACCTTCGACTGATTAGATGAAGCCCACCATTCTCCTTTATAC CTTCGACTGATTAGATGAAGCCCACGCTTCTCCTTTGGACCTTCAACTGA TTAGATGAGGCCCACCTTTCCCCCTTCAGCCTTTCGACTGATTAGATGAG GCCCACCCTCCCC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSMD1_chr8_2930361_4999914	3448345	G G	GAAGGAAG others(232): Show GAAGGAAGGAAGGAAGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGG GAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGAAGGAAGAAGGGAGGAAGG GAGGGGGAGGAGGGAGGAGGAAGGGAGGGGGGGAGGGAGGGAGGGAGGAG GAAGGAAGGAAGGAAGAAGGAAGAAGGGAGGAAGGGAGGGGGAGGAGGGA GGAGGAAGGGAGGGGGGAGGGAGGGAGGGAGGAGGAAGGA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0004 a0004	a0004c0086 a0004c0086	a0004c0086t0002 a0004c0086t0002	a0004c0086t0002g0118 a0004c0086t0002g0118	1	126	0.0079	239	c.156 others(260): Show c.1561+20366_1561+20367insTCCTTCCTCCTCCCTCCCTCCCTC CCCCCTCCCTTCCTCCTCCCTCCTCCCCCTCCCTTCCTCCCTTCTTCCTT CTTCCTTCCTTCCTTCCTCCTCCCTCCCTCCCTCCCCCCCTCCCTTCCTC CTCCCTCCTCCCCCTCCCTTCCTCCCTTCTTCCTTCTTCCTTCCTTCCTT CCTTCCTCCCTCCCTCCCTCCTCCCTCCCTTCCTCCTCCCTCCCTCCCTT CTTCCTTCCTTCCTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CTSD_chr11_1747755_1768927	1754525	G G	GGGGATGG others(232): Show GGGGATGGAGGGATGGAGGGGATGGAGGGATGGAGGGGATGGAGGAATGG AGGAGATGGAGGGTCATGAAGAGTCACAGAGGGATGAGGGGATGGAGGGA TGGAGGGATGGAGGGGATGTGGGGATGGAGGGATGGAGGGATGGAGGGGA TGGAGGGATGGAGGGGATGGAGGGATGGAGGAGATGGAGGGTCATGAAGA GTCACAGAGGGATGTGGGGATGGAGGGATGGAGGGATGGA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	386	0.0026	239	c.827 others(254): Show c.827+380_827+381insTCCATCCCTCCATCCCTCCATCCCCACATC CCTCTGTGACTCTTCATGACCCTCCATCTCCTCCATCCCTCCATCCCCTC CATCCCTCCATCCCCTCCATCCCTCCATCCCTCCATCCCCACATCCCCTC CATCCCTCCATCCCTCCATCCCCTCATCCCTCTGTGACTCTTCATGACCC TCCATCTCCTCCATTCCTCCATCCCCTCCATCCCTCCATCCCCTCCATCC CTCCATCCC	CTSD	ENSG00000117984.15	transcript	ENST00000236671.7	protein_coding	6/8			chr11	TogoVar
CTSS_chr1_150725188_150770778	150744134	A A	ATATATTA others(232): Show ATATATTATATATTATATGTATATTATGTATACATAATATATTATATATT ATATGTATATTATGTATACATAATATATTATATATTATATGTATATTATG TATACATAATATATTATATATTATATGTATATTATGTATACATAATATAT TATATATTATATGTATATTATGTATACATAATATATTATATATTATATGT ATATTATGTATACATAATATATTATATATTATATGTATAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02735.hp1 NA18950.hp1 others(1): Show HG02004.hp2 HG02735.hp1 NA18950.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0172 a0001c0001t0001g0180 others(1): Show a0001c0001t0001g0114 a0001c0001t0001g0172 a0001c0001t0001g0180 a0001c0001t0001g0206	4	344	0.0116	239	c.896 others(256): Show c.896+3642_896+3643insATATACATATAATATATAATATATTATG TATACATAATATACATATAATATATAATATATTATGTATACATAATATAC ATATAATATATAATATATTATGTATACATAATATACATATAATATATAAT ATATTATGTATACATAATATACATATAATATATAATATATTATGTATACA TAATATACATATAATATATAATATATTATGTATACATAATATACATATAA TATATAATATA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CYP3A5_chr7_99643194_99684996	99675643	T T	TCTCCTCC others(232): Show TCTCCTCCCCACTCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCCCTTCC CCTCCCCTCCTCTCCTCTCCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCC TCCCCTCTCCTCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCTCC CCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCT CCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02818.hp1 HG02922.hp2 others(1): Show HG02717.hp2 HG02818.hp1 HG02922.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0179 a0001c0002t0001g0013 a0001c0002t0001g0179	4	292	0.0137	239	c.165 others(254): Show c.165+471_165+472insGAGGGGAGGGGGAGGAGGGGAGGGGAGGGG GGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGG AGGGGAGGGGGGAGGAGGGGAGGGGAGAGGAGAGGGGAGGGGAGGGGAGA GGAGAGGGGAGGGGAGGGGAGAGGAGAGGGGAGGGGAGGGGGAGAGGAGA GGAGGGGAGGGGAAGGGGGAGGGGAGAGGGGAGGGGGAGGGGAGAGGAGT GGGGAGGAG	CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	2/12			chr7	TogoVar
DENND1B_chr1_197499748_197780480	197713905	A A	AATATATT others(232): Show AATATATTATATATTATATATATTAAAATATATATATGTAATATATAATT ATATATTACATATTATGATATATAATATATAATTATATATTATATACATA TAATATATACATATATTATATACATATAATATATACATATATTATATACA TATAATATATACATATATTATATACATATAATATATACATATATTATATA CATATAATATATACATATATTATATACATATAATATATAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03041.hp2 HG01884.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0050 a0001c0003t0027 a0001c0003t0050	a0001c0003t0027g0198 a0001c0003t0050g0202 a0001c0003t0027g0198 a0001c0003t0050g0202	2	280	0.0071	239	c.126 others(256): Show c.126+1125_126+1126insGTATATATTATATGTATATAATATATGT ATATATTATATGTATATAATATATGTATATATTATATGTATATAATATAT GTATATATTATATGTATATAATATATGTATATATTATATGTATATAATAT ATGTATATATTATATGTATATAATATATAATTATATATTATATATCATAA TATGTAATATATAATTATATATTACATATATATATTTTAATATATATAAT ATATAATATAT	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	3/22			chr1	TogoVar
DIDO1_chr20_62872743_62931505	62875248	C C	CACCCCCA others(232): Show CACCCCCACCCCCACCCTCACCCCCACCCCCACCCCCACCCCCACCCCCA CCCGCACCGGCACCCCCACCCGCACCGGCACCCCCACCCCCACCCCCACC CCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCC CACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCA CCCGCACCCCCACCCCCACCCCCACCCCCACCCGCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0237 a0003c0003t0001g0237	1	320	0.0031	239	c.39 others(250): Show c.3984_*3985insAGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGG TGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTG GGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCG GGTGGGGGTGGGGGTGGGGGTGGGGGTGCCGGTGCGGGTGGGGGTGCCGG TGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGGGGGTG GGGGT	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2494		chr20	TogoVar
DLGAP2_chr8_732628_1713476	1164213	C C	CATCATTT others(232): Show CATCATTTTGGTTTGTGGGGACAGATTTTTCTGTGAGCCCCCAGGGCCCG TCATTTTGGTTTGTGGGGACAGATTTTTCTGTGAGTCCCCAGGGCCCATC GTTTTGGTTTCTGGGGATTTTTCTGTGAGCCCCCCAGGGCCTAATGTTTT GGTTTGTGGGGACAGATTTTTCTGTGAGCCCCCCAGGGCCTGTCGTTTTG GTTTGTGGGGACAGATTTTTCTGTGAGCCCCCCAGGGCCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	40	0.0250	239	c.74- others(256): Show c.74-94638_74-94637insATCATTTTGGTTTGTGGGGACAGATTTT TCTGTGAGCCCCCAGGGCCCGTCATTTTGGTTTGTGGGGACAGATTTTTC TGTGAGTCCCCAGGGCCCATCGTTTTGGTTTCTGGGGATTTTTCTGTGAG CCCCCCAGGGCCTAATGTTTTGGTTTGTGGGGACAGATTTTTCTGTGAGC CCCCCAGGGCCTGTCGTTTTGGTTTGTGGGGACAGATTTTTCTGTGAGCC CCCCAGGGCCT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14			chr8	TogoVar
DLGAP2_chr8_732628_1713476	1164213	C C	CATCATTT others(232): Show CATCATTTTGGTTTGTGGGGACAGATTTTTCTGTGAGCCCCCAGGGCCCG TCATTTTGGTTTGTGGGGACAGATTTTTCTGTGAGTCCCCAGGGCCCATC GTTTTGGTTTGTGGGGATTTTTCTGTGAGCCCCCCAGGGCCTAATGTTTT GGTTTGTGGGGACAGATTTTTCTGTGAGCCCCCCAGGGCCTGTCGTTTTG GTTTGTGGGGACAGATTTTTCTGTGAGCCCCCCAGGGCCT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01891.hp1 HG02698.hp2 HG01361.hp1 HG01891.hp1 HG02698.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0002c0004 a0001c0003 a0002c0001 a0002c0004	a0001c0003t0024 a0002c0001t0001 a0002c0004t0018 a0001c0003t0024 a0002c0001t0001 a0002c0004t0018	a0001c0003t0024g0003 a0002c0001t0001g0018 a0002c0004t0018g0010 a0001c0003t0024g0003 a0002c0001t0001g0018 a0002c0004t0018g0010	3	40	0.0750	239	c.74- others(256): Show c.74-94638_74-94637insATCATTTTGGTTTGTGGGGACAGATTTT TCTGTGAGCCCCCAGGGCCCGTCATTTTGGTTTGTGGGGACAGATTTTTC TGTGAGTCCCCAGGGCCCATCGTTTTGGTTTGTGGGGATTTTTCTGTGAG CCCCCCAGGGCCTAATGTTTTGGTTTGTGGGGACAGATTTTTCTGTGAGC CCCCCAGGGCCTGTCGTTTTGGTTTGTGGGGACAGATTTTTCTGTGAGCC CCCCAGGGCCT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14			chr8	TogoVar
DNAH10_chr12_123757301_123940714	123911763	T T	TGGGGGGG others(232): Show TGGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGG GGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGG GGGTCTGTCCTGGGGGGGGGGTCCTGTCCTGGGGGGTCTGTCCTGGGGGG GGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGTC TGTGCTGGGGGGTCTGTCCTGGGCGGGGGGGTCTGTCCTG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0062 a0062	a0062c0074 a0062c0074	a0062c0074t0001 a0062c0074t0001	a0062c0074t0001g0010 a0062c0074t0001g0010	1	170	0.0059	239	c.101 others(260): Show c.10134+1097_10134+1098insGGGTCTGTCCTGGGGGGTCTGTCC TGGGGGGGGTCTGTCCTGGGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTG GGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGGTCCTGTCCTG GGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGG GGGTCTGTCCTGGGGGGTCTGTGCTGGGGGGTCTGTCCTGGGCGGGGGGG TCTGTCCTGGGGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAI7_chr12_25103289_25200160	25106528	T T	TCAGACTC others(232): Show TCAGACTCTGTCTCTTAAATATATATATATATATATATACATGTATTTAT ATATATGCACACATATAAAATATATATTAAATATGTGCACATATATAAAA TATGTGTATTATTAAATATGTATTATATAAATACATAATATATGCATAAT ATATATGTGTATATAATCTATAAATATGTGTATATATAATATATATTTTT AATATGTGTATATATAATATATATTTTTTTAAGAGACAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	336	0.0030	239	c.20 others(250): Show c.2019_*2020insTCTGTCTCTTAAAAAAATATATATTATATATACA CATATTAAAAATATATATTATATATACACATATTTATAGATTATATACAC ATATATATTATGCATATATTATGTATTTATATAATACATATTTAATAATA CACATATTTTATATATGTGCACATATTTAATATATATTTTATATGTGTGC ATATATATAAATACATGTATATATATATATATATATATTTAAGAGACAGA GTCTG	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding		1760		chr12	TogoVar
DOC2B_chr17_137789_186650	141295	A A	AGGAGGAC others(232): Show AGGAGGACCTGGTGAGGGGAACATGGGTGGGACCTTGGTGAGGGGACATG GTGAGGAGGACCTGGGGGGGACCTTGGTGAGGGGACATGGTGAGGGGAGC ATGGTGAGGAGGACCTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGG GACCTGGTGAGGGGAACATGGGTGGGACCTTGGTGAGGGGACCTGGTGAG GGGAACATGGGTGGGACCTTGGTGAGGAGGACCTGGTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0269 a0001c0002t0016g0269	1	339	0.0030	239	c.61 others(250): Show c.6145_*6146insCTCACCAGGTCCTCCTCACCAAGGTCCCACCCAT GTTCCCCTCACCAGGTCCCCTCACCAAGGTCCCACCCATGTTCCCCTCAC CAGGTCCCCTCACCAGGTCCCCTCACCAGGTCCCCTCACCAGGTCCTCCT CACCATGCTCCCCTCACCATGTCCCCTCACCAAGGTCCCCCCCAGGTCCT CCTCACCATGTCCCCTCACCAAGGTCCCACCCATGTTCCCCTCACCAGGT CCTCC	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding		1493		chr17	TogoVar

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