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

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cds cds pos length	aa aa pos length	distance	status	chr	external
COL18A1_chr21_45400165_45518720	45489956	GCCCCACA others(34): Show GCCCCACACCTCCTCCCCCACACCCTCCCCCACTTCCCCGTC	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01123.hp1 HG03579.hp2 others(3): Show HG01070.hp2 HG01123.hp1 HG03579.hp2 HG03654.hp1 HG03942.hp1 HG04184.hp1	a0001 a0009 a0012 others(1): Show a0001 a0009 a0012 a0025	a0001c0003 a0009c0016 a0012c0065 others(1): Show a0001c0003 a0009c0016 a0012c0065 a0025c0050	a0001c0003t0001 a0009c0016t0001 a0009c0016t0002 others(2): Show a0001c0003t0001 a0009c0016t0001 a0009c0016t0002 a0012c0065t0002 a0025c0050t0002	a0001c0003t0001g0145 a0009c0016t0001g0084 a0009c0016t0001g0209 others(3): Show a0001c0003t0001g0145 a0009c0016t0001g0084 a0009c0016t0001g0209 a0009c0016t0002g0252 a0012c0065t0002g0096 a0025c0050t0002g0108	6	292	0.0206	-41	c.196 others(58): Show c.1960-257_1960-217delACCCTCCCCCACTTCCCCGTCCCCCACA CCTCCTCCCCCAC		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	19/41				INFO_REALIGN_3_PRIME	chr21	TogoVar
COL23A1_chr5_178232618_178595393	178349478	CGGCCCTC others(34): Show CGGCCCTCCGCTAGGCGGGCCCATCCCCCATGCCCCACACCT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	236	0.0042	-41	c.362 others(60): Show c.362-42600_362-42560delAGGTGTGGGGCATGGGGGATGGGCCC GCCTAGCGGAGGGCC		COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28					chr5	TogoVar
COL23A1_chr5_178232618_178595393	178547599	CCACACAC others(34): Show CCACACACACACCCCCCACACACACCCACCCACACCCCCCCA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0195 a0002c0003t0003g0195	1	236	0.0042	-41	c.361 others(60): Show c.361+13042_361+13082delTGGGGGGGTGTGGGTGGGTGTGTGTG GGGGGTGTGTGTGTG		COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28					chr5	TogoVar
COL23A1_chr5_178232618_178595393	178587491	GCAAGGAT others(34): Show GCAAGGATGTCTTTTCTTTAATGTGGACATGGTTTCTGCCTC	G G	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0059 a0001c0004t0005g0059	1	236	0.0042	-41	c.294 others(58): Show c.294+2372_294+2412delGAGGCAGAAACCATGTCCACATTAAAGA AAAGACATCCTTG		COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	1/28					chr5	TogoVar
COL4A2_chr13_110302284_110518209	110506330	TAGGTGCA others(34): Show TAGGTGCACCAGGCCGTCCACTCTCTCTCTTTCTCGGGCTGC	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0004 a0003c0010t0004	a0003c0010t0004g0002 a0003c0010t0004g0002	2	372	0.0054	-41	c.440 others(53): Show c.4403-24_4419delCTCTCTCTCTTTCTCGGGCTGCAGGTGCACCAG GCCGTCCA	p.Ala others(6): Show p.Ala1469fs	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	46/48	4403/5139	1468/1712		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL6A1_chr21_45976770_46010048	45977799	GAGGGGGA others(34): Show GAGGGGGAGAGAGGAGGGAGGGGGAGAGAGGAGGGAGGGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0120 a0002c0002t0001g0120	1	128	0.0078	-41	c.-40 others(52): Show c.-4051_-4011delAGGGGGAGAGAGGAGGGAGGGGGAGAGAGGAGGG AGGGGGA		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding				3970		chr21	TogoVar
COL6A1_chr21_45976770_46010048	46002813	AGTCCCAG others(34): Show AGTCCCAGATCTGCGTAGGTGCACGCGGGGCCGCCCAGGGCC	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0002 a0013c0020t0002	a0013c0020t0002g0002 a0013c0020t0002g0002	1	128	0.0078	-41	c.243 others(58): Show c.2434+116_2434+156delCGTAGGTGCACGCGGGGCCGCCCAGGGC CGTCCCAGATCTG		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	33/34				INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A3_chr2_237319018_237419164	237343514	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01255.hp2 HG01358.hp1 others(20): Show HG01081.hp1 HG01255.hp2 HG01358.hp1 HG02145.hp1 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02735.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG03041.hp2 HG03130.hp2 HG03225.hp1 HG03540.hp2 HG03942.hp1 HG04115.hp1 HG06807.hp1	a0003 a0004 a0005 others(3): Show a0003 a0004 a0005 a0013 a0036 a0057	a0003c0031 a0003c0039 a0003c0121 others(8): Show a0003c0031 a0003c0039 a0003c0121 a0004c0071 a0005c0008 a0005c0012 a0005c0090 a0013c0034 a0013c0053 a0036c0137 a0057c0099	a0003c0031t0004 a0003c0039t0001 a0003c0039t0003 others(13): Show a0003c0031t0004 a0003c0039t0001 a0003c0039t0003 a0003c0121t0003 a0004c0071t0004 a0005c0008t0001 a0005c0008t0004 a0005c0008t0005 a0005c0012t0002 a0005c0012t0003 a0005c0012t0004 a0005c0090t0003 a0013c0034t0005 a0013c0053t0004 a0036c0137t0003 a0057c0099t0004	a0003c0031t0004g0194 a0003c0031t0004g0196 a0003c0039t0001g0176 others(20): Show a0003c0031t0004g0194 a0003c0031t0004g0196 a0003c0039t0001g0176 a0003c0039t0003g0163 a0003c0121t0003g0191 a0004c0071t0004g0178 a0005c0008t0001g0086 a0005c0008t0004g0133 a0005c0008t0005g0083 a0005c0008t0005g0100 a0005c0008t0005g0180 a0005c0008t0005g0181 a0005c0012t0002g0300 a0005c0012t0003g0132 a0005c0012t0003g0142 a0005c0012t0004g0117 a0005c0012t0004g0144 a0005c0090t0003g0122 a0013c0034t0005g0102 a0013c0034t0005g0103 a0013c0053t0004g0093 a0036c0137t0003g0081 a0057c0099t0004g0152	23	322	0.0714	-41	c.766 others(58): Show c.7668+795_7668+835delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT		COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	36/43					chr2	TogoVar
COL6A6_chr3_130512177_130682042	130546732	GTTTACAA others(34): Show GTTTACAAACCTTGAGCTAGACACAGGATGCTGATTGGTGCA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp2 HG02129.hp2 others(2): Show HG00408.hp1 HG00621.hp2 HG02129.hp2 HG03831.hp1 NA18966.hp2	a0007 a0010 a0011 others(1): Show a0007 a0010 a0011 a0040	a0007c0018 a0010c0016 a0011c0008 others(1): Show a0007c0018 a0010c0016 a0011c0008 a0040c0066	a0007c0018t0003 a0007c0018t0009 a0010c0016t0001 others(2): Show a0007c0018t0003 a0007c0018t0009 a0010c0016t0001 a0011c0008t0001 a0040c0066t0003	a0007c0018t0003g0015 a0007c0018t0009g0257 a0010c0016t0001g0113 others(2): Show a0007c0018t0003g0015 a0007c0018t0009g0257 a0010c0016t0001g0113 a0011c0008t0001g0131 a0040c0066t0003g0175	5	264	0.0189	-41	c.-31 others(60): Show c.-31-13576_-31-13536delGATGCTGATTGGTGCATTTACAAACC TTGAGCTAGACACAG		COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	1/36				INFO_REALIGN_3_PRIME	chr3	TogoVar
COPS5_chr8_67038079_67067133	67056653	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	292	0.0034	-41	c.574 others(54): Show c.574-90_574-50delATATATATATATATATATATATATATATATAT ATATATATA		COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding	4/7					chr8	TogoVar
CPA6_chr8_67417038_67751360	67475785	CTTTCTTT others(34): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA18964.hp1 HG01175.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0035 a0001c0001t0002g0025 a0001c0001t0001g0035 a0001c0001t0002g0025	2	144	0.0139	-41	c.838 others(58): Show c.838+7942_838+7982delAAAAGAAAGGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAA		CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	8/10					chr8	TogoVar
CPED1_chr7_120983711_121302442	121047676	CTTCTTCT others(34): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02717.hp1 HG02922.hp1 others(2): Show HG02109.hp2 HG02717.hp1 HG02922.hp1 HG03209.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0015 a0001c0001 a0001c0007 a0001c0015	a0001c0001t0001 a0001c0001t0003 a0001c0007t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0007t0001 a0001c0007t0006 a0001c0015t0002	a0001c0001t0001g0118 a0001c0001t0003g0008 a0001c0007t0001g0108 others(2): Show a0001c0001t0001g0118 a0001c0001t0003g0008 a0001c0007t0001g0108 a0001c0007t0006g0107 a0001c0015t0002g0123	5	140	0.0357	-41	c.540 others(56): Show c.540+686_540+726delCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTTT		CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	4/22				INFO_REALIGN_3_PRIME	chr7	TogoVar
CPNE7_chr16_89570758_89602246	89570861	CGGGGACG others(34): Show CGGGGACGGGAGGAGGTGAGCAGGCACGGGAGGAGGTGAGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0330 a0001c0015t0001g0330	1	348	0.0029	-41	c.-50 others(52): Show c.-5036_-4996delGGGGACGGGAGGAGGTGAGCAGGCACGGGAGGAG GTGAGCG		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding				4896		chr16	TogoVar
CPT2_chr1_53191824_53219197	53218485	GCCACACT others(34): Show GCCACACTGTCCTGGCAAAAAGCAAACAGAACTTTCAGTCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	386	0.0026	-41	c.48 others(52): Show c.4891_*4931delCCACACTGTCCTGGCAAAAAGCAAACAGAACTTT CAGTCAC		CPT2	ENSG00000157184.7	transcript	ENST00000371486.4	protein_coding				4289		chr1	TogoVar
CR1L_chr1_207640133_207728703	207721280	GTGCTGCA others(34): Show GTGCTGCAACCACTAACTCGTCATCTAGCATTAGGTATATCT	G G	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0247 a0003c0003t0001g0247	1	346	0.0029	-41	c.164 others(60): Show c.1643-2337_1643-2297delTGCTGCAACCACTAACTCGTCATCTA GCATTAGGTATATCT		CR1L	ENSG00000197721.17	transcript	ENST00000508064.7	protein_coding	11/11					chr1	TogoVar
CRLF2_chrX_1185490_1217649	1211878	TGGATGGG others(34): Show TGGATGGGTGGATGGGTGGATGGATGGATGGATGTATTGGTG	T T	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0020 a0020	a0020c0035 a0020c0035	a0020c0035t0001 a0020c0035t0001	a0020c0035t0001g0135 a0020c0035t0001g0135	1	167	0.0060	-41	c.79+ others(54): Show c.79+637_79+677delCACCAATACATCCATCCATCCATCCACCCATC CACCCATCC		CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	1/7					chrX	TogoVar
CROCC2_chr2_240901336_240998311	240919013	GGGGGACA others(34): Show GGGGGACAGTCCTGGGCCCGGGGCTGGGCAAGGTGATGGCGT	G G	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	350	0.0029	-41	c.229 others(56): Show c.229+142_229+182delACAGTCCTGGGCCCGGGGCTGGGCAAGGTG ATGGCGTGGGG		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	2/31				INFO_REALIGN_3_PRIME	chr2	TogoVar
CRYBB2_chr22_25214639_25236869	25218763	GAGAGAGA others(34): Show GAGAGAGAGAGAGAGAGAAGAAAGAAAGAAAGAAAGAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG03927.hp1 NA19010.hp1 others(1): Show HG02015.hp2 HG03927.hp1 NA19010.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0002t0001g0069 others(1): Show a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0002t0001g0069 a0001c0002t0001g0071	4	464	0.0086	-41	c.-92 others(50): Show c.-929_-889delAGAGAGAGAGAGAGAGAAGAAAGAAAGAAAGAAAGA AAGAA		CRYBB2	ENSG00000244752.3	transcript	ENST00000398215.3	protein_coding				875		chr22	TogoVar
CSF2RA_chrX_1263814_1314935	1307793	TTTTAGAC others(34): Show TTTTAGACCTTTGACTGATTAGATGAGGCCTACCCTTCTCCC	T T	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0049 a0001c0001t0004g0049	1	159	0.0063	-41	c.112 others(60): Show c.1126-1541_1126-1501delGCCTACCCTTCTCCCTTTAGACCTTT GACTGATTAGATGAG		CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	12/12				INFO_REALIGN_3_PRIME	chrX	TogoVar
CSMD1_chr8_2930361_4999914	4920897	AAAAGAAA others(34): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGAGAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01081.hp1 HG01255.hp2 others(7): Show HG01071.hp2 HG01081.hp1 HG01255.hp2 HG01261.hp1 HG01884.hp1 HG02056.hp1 HG02572.hp2 HG03669.hp2 NA18522.hp2 NA18906.hp2	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0008 a0019	a0001c0001 a0001c0002 a0001c0046 others(7): Show a0001c0001 a0001c0002 a0001c0046 a0001c0047 a0001c0049 a0001c0108 a0002c0072 a0007c0029 a0008c0067 a0019c0018	a0001c0001t0039 a0001c0002t0002 a0001c0046t0073 others(7): Show a0001c0001t0039 a0001c0002t0002 a0001c0046t0073 a0001c0047t0014 a0001c0049t0002 a0001c0108t0054 a0002c0072t0003 a0007c0029t0011 a0008c0067t0059 a0019c0018t0058	a0001c0001t0039g0017 a0001c0002t0002g0083 a0001c0046t0073g0091 others(7): Show a0001c0001t0039g0017 a0001c0002t0002g0083 a0001c0046t0073g0091 a0001c0047t0014g0024 a0001c0049t0002g0071 a0001c0108t0054g0074 a0002c0072t0003g0066 a0007c0029t0011g0054 a0008c0067t0059g0079 a0019c0018t0058g0068	10	126	0.0794	-41	c.85+ others(58): Show c.85+73394_85+73434delCTTTCTCTCTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69					chr8	TogoVar
CSMD3_chr8_112217928_113441939	112494461	CCTTTCTC others(34): Show CCTTTCTCTTTCTTTTCTTTTGTTTCTTTCTCTCCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02895.hp1 HG02976.hp1 others(1): Show HG01081.hp2 HG02895.hp1 HG02976.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0002 a0001c0024t0002 a0001c0001t0002 a0001c0024t0002	a0001c0001t0002g0014 a0001c0001t0002g0025 a0001c0001t0002g0068 others(1): Show a0001c0001t0002g0014 a0001c0001t0002g0025 a0001c0001t0002g0068 a0001c0024t0002g0024	4	80	0.0500	-41	c.508 others(60): Show c.5084-1819_5084-1779delAAAGAAAGGAGAGAAAGAAACAAAAG AAAAGAAAGAGAAAG		CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	30/70					chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542649	TATATATA others(34): Show TATATATATATATATATATATATGTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	390	0.0026	-41	c.230 others(58): Show c.230+7385_230+7425delTATATATATATATATATACATATATATA TATATATATATAT		CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9					chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149542652	ATATATAT others(34): Show ATATATATATATATATATATGTATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	390	0.0026	-41	c.230 others(58): Show c.230+7382_230+7422delATATATATATATATATATATACATATAT ATATATATATATA		CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9					chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149542654	ATATATAT others(34): Show ATATATATATATATATATGTATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	390	0.0026	-41	c.230 others(58): Show c.230+7380_230+7420delAAATATATATATATATATATATACATAT ATATATATATATA		CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9					chr5	TogoVar
CSNK1G1_chr15_64160525_64361173	64341394	TCCCAAAG others(34): Show TCCCAAAGTGCTGGGAATACAGGCGTGAGCCACAGTGCCCGG	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0156 a0001c0001t0003g0157	2	176	0.0114	-41	c.-22 others(62): Show c.-225+14553_-225+14593delCCGGGCACTGTGGCTCACGCCTGT ATTCCCAGCACTTTGGG		CSNK1G1	ENSG00000169118.18	transcript	ENST00000303052.13	protein_coding	1/11					chr15	TogoVar
CSNK1G2_chr19_1936172_1986338	1967983	CCCAGGCT others(34): Show CCCAGGCTGCCCCCGACCACCCTTCAGTTCTGCAGGTGGGGG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(61): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00544.hp2 HG00621.hp1 HG01109.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG02027.hp2 HG02074.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03471.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03710.hp2 HG04199.hp2 NA18906.hp2 NA18945.hp2 NA18948.hp2 NA18966.hp1 NA18969.hp2 NA18974.hp1 NA18999.hp2 NA19000.hp1 NA19005.hp1 NA19030.hp1 NA19043.hp2 NA19057.hp1 NA19070.hp2 NA19080.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0006 others(1): Show a0001c0001 a0001c0002 a0002c0006 a0003c0005	a0001c0001t0001 a0001c0001t0018 a0001c0001t0020 others(6): Show a0001c0001t0001 a0001c0001t0018 a0001c0001t0020 a0001c0002t0002 a0001c0002t0010 a0001c0002t0019 a0001c0002t0024 a0002c0006t0016 a0003c0005t0002	a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0024 others(59): Show a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0077 a0001c0001t0001g0160 a0001c0001t0001g0268 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0018g0282 a0001c0001t0020g0243 a0001c0002t0002g0003 a0001c0002t0002g0015 a0001c0002t0002g0021 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0045 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0055 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0075 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0225 a0001c0002t0002g0234 a0001c0002t0002g0240 a0001c0002t0002g0244 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0249 a0001c0002t0002g0267 a0001c0002t0002g0321 a0001c0002t0010g0224 a0001c0002t0019g0078 a0001c0002t0024g0025 a0002c0006t0016g0059 a0003c0005t0002g0060	64	382	0.1675	-41	c.-26 others(60): Show c.-265-1523_-265-1483delCAGGCTGCCCCCGACCACCCTTCAGT TCTGCAGGTGGGGGC		CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11				INFO_REALIGN_3_PRIME	chr19	TogoVar
CSTF3_chr11_33079584_33166480	33163899	ATATATAT others(34): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0136 a0001c0001t0003g0140 a0001c0001t0003g0175 a0001c0001t0003g0136 a0001c0001t0003g0140 a0001c0001t0003g0175	3	360	0.0083	-41	c.-26 others(52): Show c.-2615_-2575delAAAAAAAAAAAAAAATATATATATATATATATAT ATATATA		CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding				2420		chr11	TogoVar
CSTF3_chr11_33079584_33166480	33163903	ATATATAT others(34): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	360	0.0028	-41	c.-26 others(52): Show c.-2619_-2579delAAAAAAAAAAAAAAAAAAATATATATATATATAT ATATATA		CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding				2424		chr11	TogoVar
CTDP1_chr18_79674803_79759503	79752408	CCGGCTGG others(34): Show CCGGCTGGTTATGCAGAGGCTCGTAAGGAAAGCCTAGTGGCA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0097 a0001c0001t0008g0097	1	378	0.0027	-41	c.274 others(60): Show c.2748-1242_2748-1202delGGCTGGTTATGCAGAGGCTCGTAAGG AAAGCCTAGTGGCAC		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12				INFO_REALIGN_3_PRIME	chr18	TogoVar
CTU2_chr16_88701503_88720396	88713210	TGAGAGCC others(34): Show TGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0014 a0014	a0014c0027 a0014c0027	a0014c0027t0001 a0014c0027t0001	a0014c0027t0001g0179 a0014c0027t0001g0179	1	418	0.0024	-41	c.738 others(54): Show c.738-81_738-41delCCCTGACCCCCACTCATACCCGAGAGCCCCCC TTCCCCGGG		CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14				INFO_REALIGN_3_PRIME	chr16	TogoVar
CUBN_chr10_16818966_17134811	17011800	TGCTGATT others(34): Show TGCTGATTGGTGCATTTACAAACCTTTAGCTAGACACAGAGC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG01891.hp2 others(16): Show HG01243.hp1 HG01884.hp2 HG01891.hp2 HG01975.hp2 HG02109.hp2 HG02280.hp1 HG02572.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp2	a0016 a0021 a0026 others(16): Show a0016 a0021 a0026 a0050 a0054 a0060 a0064 a0069 a0071 a0072 a0074 a0079 a0094 a0102 a0107 a0108 a0109 a0110 a0112	a0016c0115 a0021c0081 a0026c0018 others(16): Show a0016c0115 a0021c0081 a0026c0018 a0050c0075 a0054c0092 a0060c0113 a0064c0072 a0069c0082 a0071c0104 a0072c0025 a0074c0061 a0079c0069 a0094c0028 a0102c0019 a0107c0160 a0108c0161 a0109c0156 a0110c0155 a0112c0154	a0016c0115t0002 a0021c0081t0002 a0026c0018t0001 others(16): Show a0016c0115t0002 a0021c0081t0002 a0026c0018t0001 a0050c0075t0001 a0054c0092t0001 a0060c0113t0001 a0064c0072t0001 a0069c0082t0001 a0071c0104t0001 a0072c0025t0001 a0074c0061t0003 a0079c0069t0001 a0094c0028t0002 a0102c0019t0003 a0107c0160t0001 a0108c0161t0001 a0109c0156t0005 a0110c0155t0014 a0112c0154t0001	a0016c0115t0002g0047 a0021c0081t0002g0032 a0026c0018t0001g0002 others(16): Show a0016c0115t0002g0047 a0021c0081t0002g0032 a0026c0018t0001g0002 a0050c0075t0001g0140 a0054c0092t0001g0161 a0060c0113t0001g0046 a0064c0072t0001g0019 a0069c0082t0001g0004 a0071c0104t0001g0162 a0072c0025t0001g0101 a0074c0061t0003g0176 a0079c0069t0001g0020 a0094c0028t0002g0180 a0102c0019t0003g0051 a0107c0160t0001g0191 a0108c0161t0001g0185 a0109c0156t0005g0188 a0110c0155t0014g0187 a0112c0154t0001g0184	19	192	0.0990	-41	c.416 others(60): Show c.4168+7992_4168+8032delGCTCTGTGTCTAGCTAAAGGTTTGTA AATGCACCAATCAGC		CUBN	ENSG00000107611.16	transcript	ENST00000377833.10	protein_coding	28/66					chr10	TogoVar
CUBN_chr10_16818966_17134811	17018844	TGCTGATT others(34): Show TGCTGATTGGTGCATTTACAAACCTTTAGCTAGACACAGAGC	T T	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0009 a0009	a0009c0123 a0009c0123	a0009c0123t0002 a0009c0123t0002	a0009c0123t0002g0011 a0009c0123t0002g0011	1	192	0.0052	-41	c.416 others(58): Show c.4168+948_4168+988delGCTCTGTGTCTAGCTAAAGGTTTGTAAA TGCACCAATCAGC		CUBN	ENSG00000107611.16	transcript	ENST00000377833.10	protein_coding	28/66					chr10	TogoVar
CYP2W1_chr7_978181_994640	990224	TGGTGTGG others(34): Show TGGTGTGGTCGGCAGTGTGACAGTGGCGCGTGTGCTGGGGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0011 a0001c0015t0011	a0001c0015t0011g0001 a0001c0015t0011g0001	1	408	0.0025	-41	c.14 others(52): Show c.1403_*1443delGGTGTGGTCGGCAGTGTGACAGTGGCGCGTGTGC TGGGGGC		CYP2W1	ENSG00000073067.14	transcript	ENST00000308919.12	protein_coding				585		chr7	TogoVar
CYTH3_chr7_6156779_6277624	6259734	CATATATA others(34): Show CATATATATAATATATATATATATTATATATATATATATTAT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0288 a0001c0001t0002g0288	1	348	0.0029	-41	c.34+ others(58): Show c.34+12699_34+12739delATAATATATATATATATAATATATATAT ATATTATATATAT		CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12					chr7	TogoVar
DAB1_chr1_56989778_57429060	57299602	GTATGAGA others(34): Show GTATGAGAAAAAAACAAGTGCATAAACCTAAAATAATTCCAT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02615.hp2 HG02976.hp1 others(3): Show HG01891.hp2 HG02615.hp2 HG02976.hp1 HG03098.hp1 HG06807.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012	a0001c0001t0001g0131 a0001c0001t0003g0014 a0001c0001t0005g0045 others(3): Show a0001c0001t0001g0131 a0001c0001t0003g0014 a0001c0001t0005g0045 a0001c0001t0006g0115 a0001c0001t0007g0010 a0001c0001t0012g0013	6	138	0.0435	-41	c.-13 others(60): Show c.-136-8477_-136-8437delATGGAATTATTTTAGGTTTATGCACT TGTTTTTTTCTCATA		DAB1	ENSG00000173406.16	transcript	ENST00000371236.7	protein_coding	1/14					chr1	TogoVar
DBNDD1_chr16_89999871_90024456	90008397	CGTCCCAA others(34): Show CGTCCCAAGGGGCCTCAGCCCACCACCCACACCTCCCAGGAT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA19030.hp2 HG03209.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0080 a0001c0001t0008g0127 a0001c0001t0001g0080 a0001c0001t0008g0127	2	412	0.0049	-41	c.319 others(56): Show c.319+346_319+386delATCCTGGGAGGTGTGGGTGGTGGGCTGAGG CCCCTTGGGAC		DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding	3/3					chr16	TogoVar
DCAF7_chr17_63545477_63599266	63599055	TGAAAGAA others(34): Show TGAAAGAAGCCAGTTACCAAAGGCCACATAGTGTGTGGGCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0192 a0001c0001t0010g0192	1	262	0.0038	-41	c.98 others(52): Show c.9884_*9924delGAAAGAAGCCAGTTACCAAAGGCCACATAGTGTG TGGGCCC		DCAF7	ENSG00000136485.16	transcript	ENST00000614556.5	protein_coding				4790		chr17	TogoVar
DCBLD2_chr3_98790941_98906695	98837727	TGGCCGGG others(34): Show TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC	T T	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0037 a0001c0002t0012g0037	1	330	0.0030	-41	c.571 others(60): Show c.571+11693_571+11733delGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCC		DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15					chr3	TogoVar
DCDC2_chr6_24166755_24363059	24226508	AGAGACAG others(34): Show AGAGACAGGCTCCACTCTTGTCAACAAGAAGCCACCAAAATT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0098 a0002c0002t0022g0098	1	216	0.0046	-41	c.923 others(60): Show c.923-21447_923-21407delAATTTTGGTGGCTTCTTGTTGACAAG AGTGGAGCCTGTCTC		DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9					chr6	TogoVar
DCT_chr13_94431811_94484682	94472534	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0071 a0001c0001t0004g0071	1	336	0.0030	-41	c.296 others(58): Show c.296-3530_296-3490delAAAAAAATATATATATATATATATATAT ATATATATATATA		DCT	ENSG00000080166.16	transcript	ENST00000377028.10	protein_coding	1/7					chr13	TogoVar
DCT_chr13_94431811_94484682	94472536	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02965.hp1 HG01981.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0013 a0001c0001t0008g0014 a0001c0001t0008g0013 a0001c0001t0008g0014	2	336	0.0060	-41	c.296 others(58): Show c.296-3532_296-3492delAAAAAAAAATATATATATATATATATAT ATATATATATATA		DCT	ENSG00000080166.16	transcript	ENST00000377028.10	protein_coding	1/7					chr13	TogoVar
DEFA1B_chr8_6991766_7004198	7003010	AGCCGCCT others(34): Show AGCCGCCTCTCACAAGCTGTCTGTGTGTCTGGTGTTGAGGAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	398	0.0025	-41	c.-39 others(52): Show c.-3941_-3901delATCCTCAACACCAGACACACAGACAGCTTGTGAG AGGCGGC		DEFA1B	ENSG00000240247.8	transcript	ENST00000382689.8	protein_coding				3813		chr8	TogoVar
DGKB_chr7_14140049_14907751	14211854	TTTTACTC others(34): Show TTTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGA	T T	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0108 a0001c0004t0001g0108	1	148	0.0068	-41	c.212 others(62): Show c.2123-33744_2123-33704delTCACAAAACACGAGAGTAAAATCA CAAAACATGAGAGTAAA		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25					chr7	TogoVar
DGKB_chr7_14140049_14907751	14212111	TTTTACTC others(34): Show TTTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGA	T T	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	148	0.0068	-41	c.212 others(62): Show c.2123-34001_2123-33961delTCACAAAACACGAGAGTAAAATCA CAAAACATGAGAGTAAA		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25					chr7	TogoVar
DGKB_chr7_14140049_14907751	14212196	TTTTACTC others(34): Show TTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA18951.hp2 HG02723.hp1 NA18951.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0003 a0001c0004t0001 a0001c0002t0003 a0001c0004t0001	a0001c0002t0003g0072 a0001c0004t0001g0108 a0001c0002t0003g0072 a0001c0004t0001g0108	2	148	0.0135	-41	c.212 others(62): Show c.2123-34086_2123-34046delTCACAAAACATGAGAGTAAAATCA CAAAACACGAGAGTAAA		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25					chr7	TogoVar
DGKB_chr7_14140049_14907751	14567304	TTATATAT others(34): Show TTATATATAATTATATTATATATATTATATATTTATATATTA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp2 HG00741.hp1 others(21): Show HG00280.hp2 HG00609.hp2 HG00741.hp1 HG01074.hp1 HG01109.hp2 HG01255.hp2 HG01978.hp1 HG01993.hp1 HG02145.hp2 HG02258.hp1 HG02723.hp1 HG02809.hp1 HG02886.hp2 HG03453.hp1 HG03831.hp2 HG04204.hp1 HG06807.hp1 NA18612.hp2 NA18951.hp1 NA19002.hp1 NA19030.hp2 NA19081.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0021 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0031 a0001c0002t0038 a0001c0003t0001 a0001c0003t0005 a0001c0003t0010 a0001c0004t0002 a0001c0004t0003 a0001c0004t0010 a0001c0016t0001	a0001c0001t0001g0031 a0001c0001t0001g0043 a0001c0001t0001g0105 others(21): Show a0001c0001t0001g0031 a0001c0001t0001g0043 a0001c0001t0001g0105 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0002g0048 a0001c0001t0002g0099 a0001c0001t0002g0106 a0001c0001t0007g0132 a0001c0001t0008g0123 a0001c0001t0021g0029 a0001c0002t0001g0090 a0001c0002t0001g0096 a0001c0002t0003g0072 a0001c0002t0004g0088 a0001c0002t0031g0008 a0001c0002t0038g0093 a0001c0003t0001g0087 a0001c0003t0005g0073 a0001c0003t0010g0089 a0001c0004t0002g0133 a0001c0004t0003g0067 a0001c0004t0010g0100 a0001c0016t0001g0039	24	148	0.1622	-41	c.177 others(60): Show c.1770+6867_1770+6907delTAATATATAAATATATAATATATATA ATATAATTATATATA		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	20/25					chr7	TogoVar
DGKQ_chr4_953887_978569	964480	GCCAGAAC others(34): Show GCCAGAACCCCGTTCCCCCCGGCCCTGCCCTGTCTCCACGGA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 NA18950.hp1 others(9): Show HG00423.hp1 HG00609.hp1 NA18950.hp1 NA18957.hp1 NA18969.hp2 NA18979.hp1 NA18994.hp2 NA18995.hp1 NA19009.hp1 NA19077.hp2 NA19085.hp2 NA19090.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0008 a0001c0005t0001g0063 a0001c0005t0001g0065 others(2): Show a0001c0005t0001g0008 a0001c0005t0001g0063 a0001c0005t0001g0065 a0001c0005t0001g0067 a0001c0005t0001g0068	12	438	0.0274	-41	c.173 others(58): Show c.1734+655_1734+695delTCCGTGGAGACAGGGCAGGGCCGGGGGG AACGGGGTTCTGG		DGKQ	ENSG00000145214.14	transcript	ENST00000273814.8	protein_coding	15/22					chr4	TogoVar
DGKQ_chr4_953887_978569	964486	ACCCCGTT others(34): Show ACCCCGTTCCCCCCGGCCCTGCCCTGTCTCCACGGACCAGAC	A A	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19081.hp1 NA19003.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0162 a0001c0001t0004g0182 a0001c0001t0002g0162 a0001c0001t0004g0182	2	438	0.0046	-41	c.173 others(58): Show c.1734+649_1734+689delGTCTGGTCCGTGGAGACAGGGCAGGGCC GGGGGGAACGGGG		DGKQ	ENSG00000145214.14	transcript	ENST00000273814.8	protein_coding	15/22					chr4	TogoVar
DHRSX_chrX_2214506_2505976	2485652	GGAGGGAT others(34): Show GGAGGGATGGGGGAAGGAGGGAGGGGAGGAAAGGGAGGCAGA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02572.hp1 HG02895.hp1 HG01261.hp1 HG02572.hp1 HG02895.hp1	a0002 a0004 a0007 a0002 a0004 a0007	a0002c0002 a0004c0014 a0007c0009 a0002c0002 a0004c0014 a0007c0009	a0002c0002t0004 a0004c0014t0005 a0007c0009t0013 a0002c0002t0004 a0004c0014t0005 a0007c0009t0013	a0002c0002t0004g0031 a0004c0014t0005g0007 a0007c0009t0013g0005 a0002c0002t0004g0031 a0004c0014t0005g0007 a0007c0009t0013g0005	3	50	0.0600	-41	c.109 others(60): Show c.109+15124_109+15164delTCTGCCTCCCTTTCCTCCCCTCCCTC CTTCCCCCATCCCTC		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	1/6					chrX	TogoVar
DIP2B_chr12_50499985_50753657	50579643	AAATATAT others(34): Show AAATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02698.hp1 HG02148.hp2 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0167 a0001c0001t0001g0116 a0001c0001t0001g0167	2	284	0.0070	-41	c.101 others(60): Show c.101-46331_101-46291delATATATATATATATATATATATATAT ATATATATATATATA		DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37				INFO_REALIGN_3_PRIME	chr12	TogoVar

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