Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(311): Show GAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGAG GAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGGG GAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTTGA GAAGGAGGGGGTAGGGAGAGAGGGGGGGCAGAGAAAGAGGAGGGGGGGGA GGGAGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGG GGGGGAGGGAGAGAGAGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGGAG GGAGAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0253 a0001c0002t0002g0253	1	276	0.0036	318	c.286 others(335): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTCCCCCTT CTCTCCCTCCCCACTCCCTCCCCCCTCTCTCTCCCTCCCCCCCTCCTTCT CCCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCCCC TCCTCTTTCTCTGCCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCCT CTCTCTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCTCCC CCCCAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCC CCCTCTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GAGGGAGG others(311): Show GAGGGAGGGAGGAGGGAGGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGA GGAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGGAGGG GGGGGAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGG TTGAGAAGGAGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGG AGGGAGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAG GGGGGAGGGAGAGAGAGGGGGGAGGGAGTGGGGAGGGAGAGAAGGGGTAG GGAGAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0142 a0002c0001t0001g0142	1	276	0.0036	318	c.286 others(335): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTACCCCTT CTCTCCCTCCCCACTCCCTCCCCCCTCTCTCTCCCTCCCCCCTCCTTCTC CCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCCTCC TCTTTCTCTGCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCCTCTCT CTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCCCTCCCCC CCCAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCCC CCTCTTTCCCTTCCCCCTCCCCCCTCCCTCCTCCCTCCCT	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CARD10_chr22_37485362_37524415	37491610	G G	GGAGGGAG others(311): Show GGAGGGAGGGAGGAGGGAGGGGGAGGGGGAAGGGAAAGAGGGGGAGGGGA GGAGACAGGGAAAGGAAGGGGTGGAGGGGAGAGAGACTGGGGGGGAGGGG GGGAGGGAGAGAGGTGGGAGGAAGAGATGGGGGAGGGAGAGAGAGGGGTT GAGAAGGAGGGGGTAGGGAGAGAGGGGGGCAGAGAAAGAGGAGGGGGGAG GGAGGAGGGAGAGAGGGGGAGGGAGAGAGAGGGGTAAGGGAGAAGGAGGG GGGGGAGGGAGAGAGAGGGGGGGAGGAGTGGGGAGGGAGAGAAGGGGTAG GGAGAAGGGGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0235 a0003c0004t0001g0235	1	276	0.0036	318	c.286 others(335): Show c.2864+144_2864+145insTCTCCCTCCCCCCTTCTCCCTACCCCTT CTCTCCCTCCCCACTCCTCCCCCCCTCTCTCTCCCTCCCCCCCCTCCTTC TCCCTTACCCCTCTCTCTCCCTCCCCCTCTCTCCCTCCTCCCTCCCCCCT CCTCTTTCTCTGCCCCCCTCTCTCCCTACCCCCTCCTTCTCAACCCCTCT CTCTCCCTCCCCCATCTCTTCCTCCCACCTCTCTCCCTCCCCCCCTCCCC CCCAGTCTCTCTCCCCTCCACCCCTTCCTTTCCCTGTCTCCTCCCCTCCC CCTCTTTCCCTTCCCCCTCCCCCTCCCTCCTCCCTCCCTC	CARD10	ENSG00000100065.15	transcript	ENST00000251973.10	protein_coding	19/19			chr22	TogoVar
CC2D2B_chr10_95902975_96038745	95908767	T T	TAAAAAAC others(311): Show TAAAAAACATTACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(27): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00558.hp2 HG00639.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01106.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01346.hp1 HG01496.hp1 HG01884.hp1 HG01934.hp2 HG01943.hp1 HG02257.hp2 HG02273.hp2 HG02293.hp1 HG02738.hp2 HG02922.hp2 HG03688.hp1 NA18522.hp1 NA18951.hp2 NA19060.hp1 NA19075.hp1 NA20300.hp2 NA20805.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0007 a0013 a0023	a0001c0001 a0001c0007 a0001c0027 others(8): Show a0001c0001 a0001c0007 a0001c0027 a0002c0002 a0002c0014 a0003c0003 a0004c0004 a0006c0008 a0007c0009 a0013c0016 a0023c0033	a0001c0001t0001 a0001c0001t0003 a0001c0007t0001 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0007t0001 a0001c0027t0001 a0002c0002t0001 a0002c0002t0002 a0002c0014t0001 a0003c0003t0001 a0004c0004t0001 a0006c0008t0001 a0007c0009t0001 a0013c0016t0001 a0023c0033t0001	a0001c0001t0001g0022 a0001c0001t0001g0032 a0001c0001t0001g0036 others(26): Show a0001c0001t0001g0022 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0049 a0001c0007t0001g0001 a0001c0027t0001g0033 a0002c0002t0001g0023 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0048 a0002c0002t0002g0025 a0002c0014t0001g0034 a0003c0003t0001g0030 a0004c0004t0001g0042 a0006c0008t0001g0041 a0007c0009t0001g0024 a0007c0009t0001g0031 a0007c0009t0001g0045 a0007c0009t0001g0046 a0013c0016t0001g0040 a0023c0033t0001g0047	30	312	0.0962	318	c.-24 others(333): Show c.-24+724_-24+725insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAACATTACAG	CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCDC144A_chr17_16685241_16782881	16769811	T T	TGCATTTT others(311): Show TGCATTTTCTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCTTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG00621.hp1 others(43): Show HG00099.hp1 HG00544.hp1 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01123.hp2 HG01358.hp1 HG01934.hp2 HG02040.hp1 HG02074.hp2 HG02165.hp1 HG03017.hp1 HG03491.hp1 HG03927.hp2 HG04204.hp1 NA18941.hp2 NA18944.hp2 NA18949.hp1 NA18953.hp2 NA18957.hp2 NA18961.hp1 NA18962.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18978.hp1 NA18984.hp1 NA19001.hp2 NA19006.hp2 NA19010.hp1 NA19011.hp2 NA19057.hp2 NA19062.hp2 NA19064.hp1 NA19065.hp2 NA19081.hp2 NA19087.hp1 homoSapiens_chm13v2.hp1	a0002 a0006 a0014 a0002 a0006 a0014	a0002c0002 a0002c0014 a0002c0019 others(2): Show a0002c0002 a0002c0014 a0002c0019 a0006c0023 a0014c0008	a0002c0002t0002 a0002c0002t0018 a0002c0002t0019 others(4): Show a0002c0002t0002 a0002c0002t0018 a0002c0002t0019 a0002c0014t0002 a0002c0019t0002 a0006c0023t0002 a0014c0008t0002	a0002c0002t0002g0001 a0002c0002t0002g0182 a0002c0002t0002g0183 others(42): Show a0002c0002t0002g0001 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0188 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0197 a0002c0002t0002g0198 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0207 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0002g0210 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0216 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0018g0189 a0002c0002t0019g0204 a0002c0014t0002g0231 a0002c0019t0002g0235 a0006c0023t0002g0215 a0014c0008t0002g0211	46	318	0.1447	318	c.409 others(337): Show c.4099-2150_4099-2149insTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCTTCCCGGGTTCACACCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCGCATTTTCTCTTTTTT	CCDC144A	ENSG00000170160.19	transcript	ENST00000399273.5	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
CCDC148_chr2_158166073_158461753	158428619	T T	TAAAAAGT others(311): Show TAAAAAGTCAGGAAACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTGACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATT AGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGA TCGCGCCACTGCGCTCCAGCCTGGGCGACAGAGCGAAACTCCATCTCAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp2 NA19080.hp1 HG01516.hp2 NA19080.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0002 a0004c0003t0001 a0004c0003t0002	a0004c0003t0001g0228 a0004c0003t0002g0026 a0004c0003t0001g0228 a0004c0003t0002g0026	2	264	0.0076	318	c.25+ others(335): Show c.25+27795_25+27796insTTTTTTTTTTTTTTTTTTTTTTGAGATG GAGTTTCGCTCTGTCGCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCATGTCAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTGTTTCCTGACTTTTT	CCDC148	ENSG00000153237.19	transcript	ENST00000283233.10	protein_coding	1/13			chr2	TogoVar
CCDC6_chr10_59783747_59911556	59882522	G G	GGGGAGAA others(311): Show GGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGG AGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAA GGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAA AGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGA AAGCCAGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGC CGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGA GAAGGAAAGGAAAGCCGGC	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA18963.hp2 NA18984.hp1 others(1): Show HG02602.hp1 NA18963.hp2 NA18984.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0119 a0001c0001t0002g0125 others(1): Show a0001c0001t0002g0033 a0001c0001t0002g0119 a0001c0001t0002g0125 a0001c0001t0002g0128	4	288	0.0139	318	c.303 others(337): Show c.303+23599_303+23600insGCCGGCTTTCCTTTCCTTCTCCCCCC GGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCC TTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTC CTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTC TCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCC GCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCG GCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC88C_chr14_91266323_91422820	91293567	G G	GGCCCACC others(311): Show GGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGTCCCCT CGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTT CCTGTCCCCTCGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCAC AGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACC CGCCACAGCCCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATC CTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTT CCCATCCTCACCTGCCACA	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA19068.hp1 HG03831.hp2 NA19068.hp1	a0003 a0003	a0003c0003 a0003c0074 a0003c0003 a0003c0074	a0003c0003t0002 a0003c0074t0002 a0003c0003t0002 a0003c0074t0002	a0003c0003t0002g0121 a0003c0074t0002g0202 a0003c0003t0002g0121 a0003c0074t0002g0202	2	284	0.0070	318	c.411 others(335): Show c.4112+605_4112+606insTGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAG GTGAGCTGTGGCGGGTGAGGATGGGAAGGTGGGCTGTGGCGGGTGAGGAT GGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGGC GAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGACAGGAAGGTGGGC TGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGACAG GAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCPG1_chr15_55350239_55413359	55364372	T T	TAAAACCA others(311): Show TAAAACCAAAACTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	354	0.0028	318	c.828 others(333): Show c.828+815_828+816insTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCGAGAGTTTTGGTTTT	CCPG1	ENSG00000260916.8	transcript	ENST00000442196.8	protein_coding	7/8			chr15	TogoVar
CCT8L2_chr22_16585751_16597810	16588652	T T	TAAAGATG others(311): Show TAAAGATGACATTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0000 a0004c0005t0001g0000	1	432	0.0023	318	c.22 others(329): Show c.2224_*2225insTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCT TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTAATGTCATCTTT	CCT8L2	ENSG00000198445.4	transcript	ENST00000359963.4	protein_coding		2098		chr22	TogoVar
CD109_chr6_73691203_73833313	73795114	C C	CAAGATTT others(311): Show CAAGATTTAGTTTTTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGTTAAAATGGTGAAACCCCGTCTCTACTACAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0020 a0020	a0020c0034 a0020c0034	a0020c0034t0037 a0020c0034t0037	a0020c0034t0037g0139 a0020c0034t0037g0139	1	362	0.0028	318	c.287 others(337): Show c.2878+2330_2878+2331insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGTTAAAATGGTGAAACCCCGTCTCTACTACAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAGATTTAGTTTTTCTGG	CD109	ENSG00000156535.15	transcript	ENST00000287097.6	protein_coding	23/32		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD109_chr6_73691203_73833313	73795114	C C	CAAGATTT others(311): Show CAAGATTTAGTTTTTCTGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTACAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCGGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA19007.hp1 NA19068.hp1 NA18949.hp1 NA19007.hp1 NA19068.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0006 a0005c0006t0006	a0005c0006t0006g0179 a0005c0006t0006g0190 a0005c0006t0006g0202 a0005c0006t0006g0179 a0005c0006t0006g0190 a0005c0006t0006g0202	3	362	0.0083	318	c.287 others(337): Show c.2878+2330_2878+2331insCCGGGCGTGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTACAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CGGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAGATTTAGTTTTTCTGG	CD109	ENSG00000156535.15	transcript	ENST00000287097.6	protein_coding	23/32		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDH12_chr5_21745673_22858344	22408219	A A	ACAAGATA others(311): Show ACAAGATAGATTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02886.hp1 HG01358.hp1 HG02886.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0001 a0006c0009t0001 a0001c0001t0001 a0006c0009t0001	a0001c0001t0001g0027 a0006c0009t0001g0006 a0001c0001t0001g0027 a0006c0009t0001g0006	2	60	0.0333	318	c.-42 others(337): Show c.-427-2869_-427-2868insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAATCTATCTTG	CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	2/14			chr5	TogoVar
CDH7_chr18_65746012_65895337	65820033	T T	TAAAAAAA others(311): Show TAAAAAAATCATCTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03471.hp1 HG03225.hp2 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0003 a0001c0006 a0002c0003	a0001c0006t0060 a0002c0003t0058 a0001c0006t0060 a0002c0003t0058	a0001c0006t0060g0096 a0002c0003t0058g0099 a0001c0006t0060g0096 a0002c0003t0058g0099	2	208	0.0096	318	c.626 others(335): Show c.626-2030_626-2029insCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAATCATCTGAGGC	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH7_chr18_65746012_65895337	65820033	T T	TAAAAAAA others(311): Show TAAAAAAATCATCTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAT TAGCCGGGGGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG02559.hp2 HG01516.hp2 HG01517.hp2 HG02559.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0004 a0001c0006 a0002c0004	a0001c0006t0027 a0002c0004t0061 a0001c0006t0027 a0002c0004t0061	a0001c0006t0027g0147 a0001c0006t0027g0148 a0002c0004t0061g0146 a0001c0006t0027g0147 a0001c0006t0027g0148 a0002c0004t0061g0146	3	208	0.0144	318	c.626 others(335): Show c.626-2030_626-2029insCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA AATTAGCCGGGGGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAATCATCTGAGGC	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDH7_chr18_65746012_65895337	65820033	T T	TAAAAAAA others(311): Show TAAAAAAATCATCTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02965.hp2 HG02647.hp2 HG02965.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0041 a0002c0005t0069 a0002c0005t0041 a0002c0005t0069	a0002c0005t0041g0080 a0002c0005t0069g0203 a0002c0005t0041g0080 a0002c0005t0069g0203	2	208	0.0096	318	c.626 others(335): Show c.626-2030_626-2029insCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAATCATCTGAGGC	CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
CDK19_chr6_110604978_110820469	110670219	T T	TAAAATTT others(311): Show TAAAATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	300	0.0033	318	c.315 others(333): Show c.315+211_315+212insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAATTTT	CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding	3/12			chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20887675	T T	TAGGATTA others(311): Show TAGGATTACTTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGTA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TAAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0078 a0001c0006t0009g0078	1	196	0.0051	318	c.742 others(337): Show c.742+41510_742+41511insTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGTAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTAAGCCACCGCGCCCGGCCAGGATTACTTTCT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20887675	T T	TAGGATTA others(311): Show TAGGATTACTTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGTA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02027.hp1 NA18992.hp2 HG01891.hp1 HG02027.hp1 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0025 a0001c0001t0027 a0001c0005t0004 a0001c0001t0025 a0001c0001t0027 a0001c0005t0004	a0001c0001t0025g0060 a0001c0001t0027g0120 a0001c0005t0004g0033 a0001c0001t0025g0060 a0001c0001t0027g0120 a0001c0005t0004g0033	3	196	0.0153	318	c.742 others(337): Show c.742+41510_742+41511insTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGTAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCAGGATTACTTTCT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDKAL1_chr6_20529457_21237404	20887675	T T	TAGGATTA others(311): Show TAGGATTACTTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGTA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCTGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0058 a0001c0001t0026g0058	1	196	0.0051	318	c.742 others(337): Show c.742+41510_742+41511insTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGTAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCTGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCAGGATTACTTTCT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CECR2_chr22_17364460_17563151	17432054	A A	ATTTGCCC others(311): Show ATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTT TGTGCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCA CACAGCCCCACTTTGTGCCTGTATGGATTTTGCCCACTCTGGACATTTCC TGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCAC TCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTA TGGATTTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCC ACTTTGTGCCTGTATGGAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02922.hp2 HG02559.hp2 HG02922.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0012 a0004c0004t0006 a0001c0001t0012 a0004c0004t0006	a0001c0001t0012g0098 a0004c0004t0006g0268 a0001c0001t0012g0098 a0004c0004t0006g0268	2	324	0.0062	318	c.127 others(337): Show c.127-45405_127-45404insTGCCCACTCTGGACATTTCCTGTAAG TGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGA CATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATT TTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTG TGCCTGTATGGATTTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCAC ACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGACATTTCCTG TAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CELF5_chr19_3219661_3302076	3287351	G G	GGAGTTCA others(311): Show GGAGTTCAAGACCAGCCTGGCCAACATGGCGAAACCCTTTCTCTACTAAA AATTCAAAAAATTAGCTGAGCGTGGTGGTGTGTGCCTGTAATCCCAACTA CTGGGGAAGCTAAGGCACAAGAATCGCTTGAACCCAGGAGGCAGAGTTTG CAGTGAGTCAAGATGATGCCACTTCACTCCAGTGTGGGTGACAGAGCAAG ACTCTGTCTCAAAAAAAATAATAAAAATAAAAATTAAAAAAATATGGTCA GGTGCAGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGACTGAGGTGG GCAGATCACCTGAGGTCAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02615.hp2 HG02630.hp1 others(2): Show HG01891.hp2 HG02615.hp2 HG02630.hp1 HG02809.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0130 others(2): Show a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0130 a0001c0001t0002g0253 a0001c0001t0002g0254	5	262	0.0191	318	c.118 others(337): Show c.1186+1354_1186+1355insCGAAACCCTTTCTCTACTAAAAATTC AAAAAATTAGCTGAGCGTGGTGGTGTGTGCCTGTAATCCCAACTACTGGG GAAGCTAAGGCACAAGAATCGCTTGAACCCAGGAGGCAGAGTTTGCAGTG AGTCAAGATGATGCCACTTCACTCCAGTGTGGGTGACAGAGCAAGACTCT GTCTCAAAAAAAATAATAAAAATAAAAATTAAAAAAATATGGTCAGGTGC AGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGACTGAGGTGGGCAGA TCACCTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGG	CELF5	ENSG00000161082.13	transcript	ENST00000292672.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CEMIP_chr15_80774370_80956771	80872459	T T	TCCCATAG others(311): Show TCCCATAGTAAACTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02630.hp1 HG02809.hp1 others(1): Show HG02622.hp1 HG02630.hp1 HG02809.hp1 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0012 a0001c0013 a0001c0003 a0001c0012 a0001c0013	a0001c0003t0001 a0001c0012t0001 a0001c0013t0004 a0001c0003t0001 a0001c0012t0001 a0001c0013t0004	a0001c0003t0001g0076 a0001c0003t0001g0250 a0001c0012t0001g0114 others(1): Show a0001c0003t0001g0076 a0001c0003t0001g0250 a0001c0012t0001g0114 a0001c0013t0004g0113	4	254	0.0158	318	c.-17 others(337): Show c.-175-1063_-175-1062insTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCCATAGTAAACTTCT	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CETN2_chrX_152821994_152835757	152833246	C C	CAAAAGTT others(311): Show CAAAAGTTATATGTGGGCCGGGCGCGGTGGCTCACGCTTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAATT AGCCGGCCGTGATGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCACACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00673.hp1 others(34): Show HG00408.hp1 HG00423.hp1 HG00673.hp1 HG01099.hp1 HG01257.hp1 HG02015.hp1 HG02083.hp1 HG02257.hp1 HG02280.hp2 HG02717.hp1 HG02886.hp2 HG02896.hp2 HG03195.hp2 HG03239.hp1 HG03486.hp1 HG03490.hp1 HG03540.hp1 HG03710.hp1 HG04115.hp1 HG04199.hp1 NA18939.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18964.hp2 NA18975.hp2 NA18979.hp1 NA18988.hp1 NA18992.hp2 NA19002.hp2 NA19009.hp1 NA19010.hp2 NA19057.hp1 NA19064.hp2 NA19081.hp1 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0017 a0001c0001t0003g0003 a0001c0001t0003g0023 others(1): Show a0001c0001t0002g0017 a0001c0001t0003g0003 a0001c0001t0003g0023 a0001c0001t0004g0007	37	321	0.1153	318	c.-25 others(329): Show c.-2537_-2536insTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCATCACGGCCGGCTAATTTTTTTGTATTT TTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGC GTGAGCCACCGCGCCCGGCCCACATATAACTTTT	CETN2	ENSG00000147400.10	transcript	ENST00000370277.5	protein_coding		2490		chrX	TogoVar
CFAP44_chr3_113281930_113446493	113328297	T T	TCAATCTC others(311): Show TCAATCTCTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCTT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCTACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0035 a0003c0007t0035	a0003c0007t0035g0047 a0003c0007t0035g0047	1	348	0.0029	318	c.411 others(335): Show c.4117-479_4117-478insGCCGGGCGCGGTAGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAAGAGATCG AGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGC CGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAGAAAGAGATTG	CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	26/34			chr3	TogoVar
CFAP61_chr20_20047532_20365698	20357793	G G	GAGGGGAG others(311): Show GAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAGTGTGAGGGGAG GTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGG TGGTCACACTGTGAGGGGAGGTGGTCACATTGAGGAGAGGTGGTCATAGT GTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGT GGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTG TGAGGGGAGGTGGTTACAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0003 a0001c0039t0003	a0001c0039t0003g0125 a0001c0039t0003g0125	1	236	0.0042	318	c.351 others(337): Show c.3514-2417_3514-2416insAGGGGAGGTGGTCATAGTGTGAGGGG AGGTGGTCACAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCAT AGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGA GGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCA CATTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGG AGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCAC ACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGGTGGTTACAC	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26			chr20	TogoVar
CHD8_chr14_21380199_21461123	21450817	C C	CAAAAAGG others(311): Show CAAAAAGGTGTTATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03041.hp2 HG03195.hp2 HG02559.hp2 HG03041.hp2 HG03195.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0001 a0001c0006t0001g0126 a0001c0006t0001g0001 a0001c0006t0001g0126	3	260	0.0115	318	c.-21 others(337): Show c.-216+5214_-216+5215insTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCAATAACACCTTTTT	CHD8	ENSG00000100888.15	transcript	ENST00000646647.2	protein_coding	1/37			chr14	TogoVar
CHD8_chr14_21380199_21461123	21453008	C C	CAAAGAAA others(311): Show CAAAGAAATACAACTGTCGTCGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0183 a0002c0002t0001g0183	1	260	0.0039	318	c.-21 others(337): Show c.-216+3023_-216+3024insTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCGACGACAGTTGTATTTCTTT	CHD8	ENSG00000100888.15	transcript	ENST00000646647.2	protein_coding	1/37			chr14	TogoVar
CHD9_chr16_53049991_53332497	53149742	T T	TAGAAATG others(311): Show TAGAAATGGGGTCTTGCGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCGGAAGGCTGA GGCAGGAGAATGGCGTGAACCCAAGAGGCGGAGCTTGCAGTGAGCCGGGA TAGCGCCACTGCAGTCCAGCTTGGGCGAAAGAGTGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02027.hp2 HG01109.hp1 HG02027.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0158 a0001c0003t0002g0033 a0001c0003t0001g0158 a0001c0003t0002g0033	2	238	0.0084	318	c.-16 others(337): Show c.-164-6168_-164-6167insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCGGA AGGCTGAGGCAGGAGAATGGCGTGAACCCAAGAGGCGGAGCTTGCAGTGA GCCGGGATAGCGCCACTGCAGTCCAGCTTGGGCGAAAGAGTGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAGAAATGGGGTCTTGC	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHID1_chr11_862859_915810	912837	C C	CAAAAAAA others(311): Show CAAAAAAAAAAAAAGAAAAAGAAAAAGAAGGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCCGGCTAAAAAATGGTGAAACCCCGTCTCTACTA AAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAG CTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 NA19240.hp2 HG02559.hp1 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0063 a0002c0002t0001g0064	2	386	0.0052	318	c.-21 others(329): Show c.-2107_-2106insTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCATTTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGGCCTTCTTTTTCTTTTTCTTTTTTTTTTTTT	CHID1	ENSG00000177830.18	transcript	ENST00000323578.13	protein_coding		2028		chr11	TogoVar
CHM_chrX_85856180_86052558	85911163	G G	GTGTGTAT others(311): Show GTGTGTATATATATATATATATGAATATATATATGAATATATATATGAAT ATATATATGAATATATATATGAATATATATGAATATATATGAATATATAT ATGAATATATATGAATATATATATGAATATATATATGAATATATATATGA ATATATATATGAATATATATATGAATATATATATGAATATATATATGAAT ATATATATGAATATATATATATGAATATATATATATGAATATATATATAT GAATATATATATGAATATATATATATGAATATATATATATGAATATATAT ATGAATATATATATATGAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0071 a0001c0002t0002g0071	1	245	0.0041	318	c.124 others(333): Show c.1244+97_1244+98insTTCATATATATATATTCATATATATATTCA TATATATATATTCATATATATATATTCATATATATATTCATATATATATA TTCATATATATATATTCATATATATATATTCATATATATATTCATATATA TATTCATATATATATTCATATATATATTCATATATATATTCATATATATA TTCATATATATATTCATATATATATTCATATATATTCATATATATATTCA TATATATTCATATATATTCATATATATATTCATATATATATTCATATATA TATTCATATATATATTCATATATATATATATATACACA	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	9/14			chrX	TogoVar
CHTF18_chr16_783620_803074	795580	G G	GCCCTTCT others(311): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCAACCACAC TGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCGTGCTGCCCGTGTGGC TGCCCACTCCCCATGCCCCCCCCATGCTGCCCGTGTGGCTGTCCCCTCCC CCGTGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGGCCCCGTGCCGCC CCGCCCCTCCCCTCCCCCC	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0004 a0004	a0004c0048 a0004c0048	a0004c0048t0002 a0004c0048t0002	a0004c0048t0002g0246 a0004c0048t0002g0246	1	428	0.0023	318	c.217 others(335): Show c.2176-102_2176-101insTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCCACACTGCCCGTGTGGCTGCCCCCGGCCCC GTGCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CCGTGCTGCCCGTGTGGCTGCCCACTCCCCATGCCCCCCCCATGCTGCCC GTGTGGCTGTCCCCTCCCCCGTGCCCCCCCCGTGCTGCCCGTGTGGGTGC CCCTGGCCCCGTGCCGCCCCGCCCCTCCCCTCCCCCCCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLEC9A_chr12_10025682_10071031	10047045	T T	TAAAGACA others(311): Show TAAAGACACTTGAATCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	406	0.0025	318	c.-16 others(337): Show c.-162-4929_-162-4928insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGACGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAGACACTTGAATCTT	CLEC9A	ENSG00000197992.7	transcript	ENST00000355819.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
CLSTN2_chr3_139930185_140582397	140004815	G G	GGGCTCCA others(311): Show GGGCTCCATGGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0025 a0001c0001t0006g0025	1	110	0.0091	318	c.109 others(337): Show c.109+69348_109+69349insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCTCCATGGTATTTT	CLSTN2	ENSG00000158258.16	transcript	ENST00000458420.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTN5_chr11_99015949_100363885	99269710	T T	TAAGATAA others(311): Show TAAGATAATTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAATGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02895.hp1 HG02965.hp1 others(2): Show HG02886.hp2 HG02895.hp1 HG02965.hp1 HG03041.hp2 HG03130.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0002c0002 a0004c0004 others(2): Show a0001c0001 a0002c0002 a0004c0004 a0005c0005 a0006c0006	a0001c0001t0010 a0002c0002t0005 a0004c0004t0020 others(2): Show a0001c0001t0010 a0002c0002t0005 a0004c0004t0020 a0005c0005t0001 a0006c0006t0011	a0001c0001t0010g0023 a0002c0002t0005g0015 a0004c0004t0020g0024 others(2): Show a0001c0001t0010g0023 a0002c0002t0005g0015 a0004c0004t0020g0024 a0005c0005t0001g0035 a0006c0006t0011g0033	5	66	0.0758	318	c.-20 others(339): Show c.-209-55625_-209-55624insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA ATGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGATAATTGA	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTNAP2_chr7_146111801_148425998	147888683	T T	TGACCATT others(311): Show TGACCATTGACTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02897.hp1 HG03098.hp2 others(2): Show HG00735.hp1 HG02897.hp1 HG03098.hp2 HG03239.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 a0001c0006t0014	a0001c0001t0018g0001 a0001c0002t0001g0008 a0001c0002t0001g0021 others(2): Show a0001c0001t0018g0001 a0001c0002t0001g0008 a0001c0002t0001g0021 a0001c0002t0002g0040 a0001c0006t0014g0033	5	40	0.1250	318	c.209 others(339): Show c.2099-14867_2099-14866insTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCGACCATTGACTTCTT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL22A1_chr8_138583235_138919041	138806033	T T	TGTGTGTG others(311): Show TGTGTGTGATGGTGTAGGTAATGGTGTGTGATGGTGTGTGTGTGATGGTG TGTGTGTGATGGTGTGTGTGTGTGATGGTGTAGTTAATGCTGTGTGGTGT GTGTGTGAGATGGTGCGTGTGTGATGGCGTGTGTGTGATGGTGTGTGTGT GTGATGGTGTGAGTAATGGTGTGTGGTGGTGTATGTTTGTGTGTGAGGGT GTGTGTGATGGTGTGTGTAATGGTGTGTGATGGTGTGTGATGGTGTAGGT AATGGTGTGTGGTGGTGTATGTGTGTGATGGTGTGTGTGATGGTGTGTGT AATGTGTGATAGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01167.hp2 HG01261.hp2 HG00735.hp1 HG01167.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0053 a0001c0001 a0001c0053	a0001c0001t0001 a0001c0001t0003 a0001c0053t0001 a0001c0001t0001 a0001c0001t0003 a0001c0053t0001	a0001c0001t0001g0050 a0001c0001t0003g0003 a0001c0053t0001g0118 a0001c0001t0001g0050 a0001c0001t0003g0003 a0001c0053t0001g0118	3	158	0.0190	318	c.149 others(337): Show c.1494+1734_1494+1735insGCACACACTATCACACATTACACACA CCATCACACACACCATCACACACATACACCACCACACACCATTACCTACA CCATCACACACCATCACACACCATTACACACACCATCACACACACCCTCA CACACAAACATACACCACCACACACCATTACTCACACCATCACACACACA CACCATCACACACACGCCATCACACACGCACCATCTCACACACACACCAC ACAGCATTAACTACACCATCACACACACACACCATCACACACACACCATC ACACACACACCATCACACACCATTACCTACACCATCACACAC	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	10/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138806033	T T	TGTGTGTG others(311): Show TGTGTGTGATGGTGTAGGTAATGGTGTGTGATGGTGTGTGTGTGATGGTG TGTGTGTGATGGTGTGTGTGTGTGATGGTGTAGTTAATGCTGTGTGGTGT GTGTGTGAGATGGTGCGTGTGTGATGGCGTGTGTGTGATGGTGTGTGTGT GTGATGGTGTGGGTAATGGTGTGTGGTGGTGTATGTTTGTGTGTGAGGGT GTGTGTGATGGTGTGTGTAATGGTGTGTGATGGTGTGTGATGGTGTAGGT AATGGTGTGTGGTGGTGTATGTGTGTGATGGTGTGTGTGATGGTGTGTGT AATGTGTGATAGTGTGTGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00597.hp1 others(52): Show HG00280.hp1 HG00280.hp2 HG00597.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01255.hp1 HG01255.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp2 HG02258.hp2 HG02523.hp1 HG02523.hp2 HG02735.hp2 HG02738.hp1 HG02896.hp1 HG02965.hp2 HG03017.hp1 HG03041.hp1 HG03225.hp1 HG03492.hp2 HG03516.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG04228.hp1 HG06807.hp2 NA18944.hp1 NA18944.hp2 NA18985.hp1 NA18985.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19066.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0012 a0014	a0001c0001 a0001c0002 a0001c0006 others(22): Show a0001c0001 a0001c0002 a0001c0006 a0001c0015 a0001c0016 a0001c0018 a0001c0024 a0001c0028 a0001c0048 a0002c0003 a0002c0004 a0002c0005 a0002c0007 a0002c0009 a0002c0011 a0002c0022 a0002c0025 a0003c0013 a0003c0020 a0003c0035 a0004c0032 a0005c0021 a0005c0051 a0012c0050 a0014c0042	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(36): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0006t0001 a0001c0006t0002 a0001c0015t0001 a0001c0016t0001 a0001c0018t0001 a0001c0024t0004 a0001c0028t0003 a0001c0048t0001 a0002c0003t0007 a0002c0004t0001 a0002c0004t0006 a0002c0004t0008 a0002c0005t0003 a0002c0007t0001 a0002c0007t0003 a0002c0007t0005 a0002c0009t0001 a0002c0009t0015 a0002c0011t0001 a0002c0011t0005 a0002c0011t0006 a0002c0022t0001 a0002c0025t0003 a0003c0013t0001 a0003c0013t0003 a0003c0020t0003 a0003c0035t0006 a0004c0032t0001 a0005c0021t0001 a0005c0051t0001 a0012c0050t0002 a0014c0042t0013	a0001c0001t0001g0053 a0001c0001t0001g0080 a0001c0001t0001g0082 others(52): Show a0001c0001t0001g0053 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0003g0004 a0001c0001t0005g0142 a0001c0001t0006g0107 a0001c0001t0006g0114 a0001c0002t0001g0016 a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0002t0001g0100 a0001c0002t0003g0009 a0001c0002t0005g0141 a0001c0002t0005g0153 a0001c0006t0001g0060 a0001c0006t0002g0032 a0001c0015t0001g0077 a0001c0016t0001g0063 a0001c0018t0001g0055 a0001c0018t0001g0075 a0001c0024t0004g0136 a0001c0028t0003g0008 a0001c0048t0001g0109 a0002c0003t0007g0157 a0002c0004t0001g0044 a0002c0004t0006g0131 a0002c0004t0008g0099 a0002c0005t0003g0007 a0002c0007t0001g0081 a0002c0007t0001g0111 a0002c0007t0001g0137 a0002c0007t0003g0010 a0002c0007t0005g0145 a0002c0009t0001g0119 a0002c0009t0015g0146 a0002c0011t0001g0019 a0002c0011t0005g0144 a0002c0011t0006g0122 a0002c0022t0001g0040 a0002c0025t0003g0013 a0003c0013t0001g0125 a0003c0013t0003g0002 a0003c0013t0003g0006 a0003c0020t0003g0014 a0003c0035t0006g0073 a0004c0032t0001g0115 a0005c0021t0001g0070 a0005c0021t0001g0079 a0005c0051t0001g0052 a0012c0050t0002g0110 a0014c0042t0013g0140	55	158	0.3481	318	c.149 others(337): Show c.1494+1734_1494+1735insGCACACACTATCACACATTACACACA CCATCACACACACCATCACACACATACACCACCACACACCATTACCTACA CCATCACACACCATCACACACCATTACACACACCATCACACACACCCTCA CACACAAACATACACCACCACACACCATTACCCACACCATCACACACACA CACCATCACACACACGCCATCACACACGCACCATCTCACACACACACCAC ACAGCATTAACTACACCATCACACACACACACCATCACACACACACCATC ACACACACACCATCACACACCATTACCTACACCATCACACAC	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	10/64			chr8	TogoVar
COL25A1_chr4_108803725_109307658	109227603	A A	AGCTTTTA others(311): Show AGCTTTTAAATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0044 a0001c0001t0011g0044	1	130	0.0077	318	c.367 others(337): Show c.367+72979_367+72980insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATTTAAAAGC	COL25A1	ENSG00000188517.17	transcript	ENST00000399132.6	protein_coding	3/37			chr4	TogoVar
COL4A3_chr2_227159624_227319792	227202888	T T	TGTATATA others(311): Show TGTATATATACGTATATATACATATATGTGTATATATACGTATATATACA TATATGTGTATATATACGTATATATACATATATGTGTATATATACGTATA TATACATATATGTGTATATATACGTATATATACATATATGTGTATATATA CGTATATATACATATATGTGTATATATACATATATGTGTATATATGTGTA TATATACATATATGTGTATATATGTGTATATATACATATATGTGTATATA TACACATATATGTGTATATATACATATATGTGTATATATGTGTATATATA CATATATGTGTATATATAC	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0021 a0021	a0021c0053 a0021c0053	a0021c0053t0001 a0021c0053t0001	a0021c0053t0001g0165 a0021c0053t0001g0165	1	344	0.0029	318	c.88- others(335): Show c.88-35080_88-35079insGTATATATACGTATATATACATATATGT GTATATATACGTATATATACATATATGTGTATATATACGTATATATACAT ATATGTGTATATATACGTATATATACATATATGTGTATATATACGTATAT ATACATATATGTGTATATATACGTATATATACATATATGTGTATATATAC ATATATGTGTATATATGTGTATATATACATATATGTGTATATATGTGTAT ATATACATATATGTGTATATATACACATATATGTGTATATATACATATAT GTGTATATATGTGTATATATACATATATGTGTATATATAC	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL5A2_chr2_189026898_189184761	189121053	T T	TTAGAACA others(311): Show TTAGAACATAATTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0012 a0012c0018t0012	a0012c0018t0012g0148 a0012c0018t0012g0148	1	248	0.0040	318	c.98- others(335): Show c.98-10605_98-10604insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAGAATTATGTTCTA	COL5A2	ENSG00000204262.14	transcript	ENST00000374866.9	protein_coding	1/53			chr2	TogoVar
COPA_chr1_160283594_160348250	160291670	G G	GAAGAAAT others(311): Show GAAGAAATGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02055.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0185 a0001c0001t0007g0188 a0001c0001t0007g0185 a0001c0001t0007g0188	2	366	0.0055	318	c.325 others(335): Show c.3258+148_3258+149insTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCACATTTCTT	COPA	ENSG00000122218.17	transcript	ENST00000241704.8	protein_coding	30/32			chr1	TogoVar
COX7B2_chr4_46729827_46914245	46782901	T T	TAAGAACT others(311): Show TAAGAACTGTAACACTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGGGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTAAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCTGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	300	0.0033	318	c.-49 others(337): Show c.-49-47661_-49-47660insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCT CACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCAGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTTACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCCCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCGAGTGTTACAGTTCTT	COX7B2	ENSG00000170516.17	transcript	ENST00000355591.8	protein_coding	2/2			chr4	TogoVar
CPB2_chr13_46048186_46110033	46073597	T T	TCAATGTA others(311): Show TCAATGTACTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCTCACTGCA AGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGGCGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02300.hp1 HG02523.hp2 others(6): Show HG02148.hp1 HG02300.hp1 HG02523.hp2 HG03453.hp1 NA18947.hp1 NA18968.hp1 NA18985.hp1 NA19088.hp2 NA19089.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0017 a0002c0002t0002g0091 a0002c0002t0002g0093 others(5): Show a0002c0002t0002g0017 a0002c0002t0002g0091 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0100 a0002c0002t0002g0102 a0002c0002t0002g0137	9	330	0.0273	318	c.591 others(333): Show c.591+275_591+276insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACATGGTGAAACCCCGCCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAGAAATAGTACATTG	CPB2	ENSG00000080618.17	transcript	ENST00000181383.10	protein_coding	6/10			chr13	TogoVar
CPNE7_chr16_89570758_89602246	89592175	A A	ATTTTTTT others(311): Show ATTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGC GAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCATTCTTTTTTT TGTTGTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGG AAGTGCAGTGGTGCAATCTCCGCTCACTGCAACCTCCCCCTCCCAGGTTC GCGCCATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGCGCCC ACCATCATGCCCGGCTAAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0022 a0001c0002t0002g0022	1	348	0.0029	318	c.130 others(335): Show c.1302+927_1302+928insTGTATTTTTAGTAGAGACGGGGTTTCAC CGTGTTAGCGAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCT CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCAT TCTTTTTTTTGTTGTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCAC CCAGGCTGGAAGTGCAGTGGTGCAATCTCCGCTCACTGCAACCTCCCCCT CCCAGGTTCGCGCCATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTA CAGGCGCCCACCATCATGCCCGGCTAATTTTTTTTTTTTT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CREB5_chr7_28407518_28830894	28601979	T T	TGAAAGAC others(311): Show TGAAAGACATAAAGTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0144 a0001c0001t0010g0144	1	198	0.0051	318	c.464 others(337): Show c.464+31457_464+31458insGGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAGAAAGACATAAAGTG	CREB5	ENSG00000146592.17	transcript	ENST00000357727.7	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
CRTAC1_chr10_97860000_98035621	97900907	G G	GGTAGTGA others(311): Show GGTAGTGATTGGACCCCGTAGCCCCTTTTCCTGGTAGTGATTGGACCCCG TAGCCCCTTTTCCTGGTAGTGATTGGACCCCGTAGCCCCTTTTCCTGGTA GTGATTGGACCCCGTAGCCCCTTTTCCTGGTAGTGATTGGACCCCGTAGC CCCTTTTCCTGGTAGTGATTGGAGCCTGTAGCCCCTTTTCCTGGTAGTGA TTGGAGCCTGTAGCCCCTTTTCCTGGTAGTGATTGGACCCCGTAGCCCCT TTTCCTGGTAGTGATTGGACCCCGTAGCCCCTTTTCCTGGTAGTGATTGG ACCCTGTAGCCCCTTTTCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02027.hp1 HG02717.hp1 others(3): Show HG00408.hp2 HG02027.hp1 HG02717.hp1 NA18612.hp2 NA19081.hp1 NA20805.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0052 a0001c0003t0001g0057 a0001c0003t0001g0071 others(3): Show a0001c0003t0001g0052 a0001c0003t0001g0057 a0001c0003t0001g0071 a0001c0003t0001g0078 a0001c0003t0001g0123 a0001c0003t0001g0147	6	204	0.0294	318	c.113 others(335): Show c.1133+595_1133+596insGGAAAAGGGGCTACAGGGTCCAATCACT ACCAGGAAAAGGGGCTACGGGGTCCAATCACTACCAGGAAAAGGGGCTAC GGGGTCCAATCACTACCAGGAAAAGGGGCTACAGGCTCCAATCACTACCA GGAAAAGGGGCTACAGGCTCCAATCACTACCAGGAAAAGGGGCTACGGGG TCCAATCACTACCAGGAAAAGGGGCTACGGGGTCCAATCACTACCAGGAA AAGGGGCTACGGGGTCCAATCACTACCAGGAAAAGGGGCTACGGGGTCCA ATCACTACCAGGAAAAGGGGCTACGGGGTCCAATCACTAC	CRTAC1	ENSG00000095713.14	transcript	ENST00000370597.8	protein_coding	8/14			chr10	TogoVar
CSMD1_chr8_2930361_4999914	3411825	T T	TATACGTG others(311): Show TATACGTGTGTATATATACGTATATATATACGTGTGTATATATACGTATA TATATACGTGTGTATATATACGTATATATATACGTGTGTATATATACGTA TATATATACGTGTGCATATATATATACGTATATATATATACGTGTATGTA TACGTATATATACGTATATATACACACGTGTATGTATACGTATATATATA CGTATATATACACGTATATATATACGTATATATACGTATATATATACGTA TATATACGTATATATATACGTATATATACGTATATATATACGTATATATA CGTATATATGTATATGCAC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0002 a0002	a0002c0041 a0002c0041	a0002c0041t0027 a0002c0041t0027	a0002c0041t0027g0018 a0002c0041t0027g0018	1	126	0.0079	318	c.156 others(337): Show c.1562-2221_1562-2220insGTGCATATACATATATACGTATATAT ACGTATATATATACGTATATATACGTATATATATACGTATATATACGTAT ATATATACGTATATATACGTATATATATACGTGTATATATACGTATATAT ATACGTATACATACACGTGTGTATATATACGTATATATACGTATACATAC ACGTATATATATATACGTATATATATATGCACACGTATATATATACGTAT ATATACACACGTATATATATACGTATATATACACACGTATATATATACGT ATATATACACACGTATATATATACGTATATATACACACGTAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149537754	A A	ACACATGA others(311): Show ACACATGAATAGTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCCC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01496.hp1 HG02451.hp1 others(8): Show HG00735.hp2 HG01496.hp1 HG02451.hp1 HG02622.hp1 HG02809.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03471.hp2 HG03579.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0003 a0001c0001t0014	a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 others(8): Show a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0326 a0001c0001t0003g0327 a0001c0001t0014g0225	11	390	0.0282	318	c.230 others(337): Show c.230+12320_230+12321insGGGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAGACTATTCATGTG	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSRNP3_chr2_165464698_165694407	165544512	T T	TAAAAGTT others(311): Show TAAAAGTTGGCTGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0001 a0001c0002t0005g0001	1	246	0.0041	318	c.-24 others(337): Show c.-24+26565_-24+26566insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGTTGGCTGTA	CSRNP3	ENSG00000178662.16	transcript	ENST00000651982.1	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar

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