Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGAA others(223): Show AAGAAGAAGAAGAAGAAGAGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGG AGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGA GGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0227 a0001c0002t0003g0227	1	364	0.0028	230	c.234 others(247): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCT TCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCTTCTTCTTCTTCTTCTTCCTCCTCTTCTTCTTCTTCTT CT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761458	A A	AAGAAGAA others(223): Show AAGAAGAAGAAGAAGAGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGG GGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGA AGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0174	1	364	0.0028	230	c.234 others(247): Show c.234+6849_234+6850insCCTTCTCCTTCTCCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCT TCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCCTCCTCTTCTTCTTCTT CT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761464	G G	GGGAAGGG others(223): Show GGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG GGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAG AAGAAGAAGGAGAAGGAGAAGGAGAAGGAGA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	364	0.0028	230	c.234 others(247): Show c.234+6843_234+6844insTCTCCTTCTCCTTCTCCTTCTCCTTCTT CTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTT CC	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761467	A A	AAGAAGAA others(223): Show AAGAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGG GGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGG AGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0136 a0001c0002t0001g0136	1	364	0.0028	230	c.234 others(247): Show c.234+6840_234+6841insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCC TCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTTC CCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTT CT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761467	A A	AAGGGGAA others(223): Show AAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGG AGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGGGGG AGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAGAAG AAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	364	0.0028	230	c.234 others(247): Show c.234+6840_234+6841insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCC TCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCC CCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCC CT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761473	A A	AAGAAGAG others(223): Show AAGAAGAGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGA GGGGGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGA AGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA19000.hp1 NA18966.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0198 a0001c0002t0003g0232 a0001c0002t0003g0198 a0001c0002t0003g0232	2	364	0.0055	230	c.234 others(247): Show c.234+6834_234+6835insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCT CCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCCTCCTCTT CT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761473	A A	AAGAGGAG others(223): Show AAGAGGAGGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGG GGAGGGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGG AGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0213 a0001c0002t0003g0213	1	364	0.0028	230	c.234 others(247): Show c.234+6834_234+6835insCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCT TCTCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCCTCCT CT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(223): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCCTCCCCTTCCCT CCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCC ACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCT CCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	410	0.0024	230	c.-22 others(241): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGGAGG GAAGGGGAGGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(223): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCTCCTCCC ACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCT CCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0023 a0001c0001t0006g0023	1	410	0.0024	230	c.-22 others(241): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCTTCCTT others(223): Show CCTTCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCTCCCCTCCCC TCCCCTCCCTCCCCTCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCTCCCCTCCCCCCTCCCCTCCTCCTCCC ACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCT CCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0023 a0001c0001t0006g0023	1	410	0.0024	230	c.-22 others(241): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGAGGGGAGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGAGGGGAGGGAGGGGAGGG GAGGGGAGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGAAG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC88C_chr14_91266323_91422820	91293567	G G	GGCCCACC others(223): Show GGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGTCCCCT CGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTT CCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCT CACCTTCCCATCCTCACCTGCCACAGCCCACCTTCCCATCCTCACCTGCC ACAGCTCACCTTCCCATCCTCACCTGCCACA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0002 a0003c0013t0002	a0003c0013t0002g0037 a0003c0013t0002g0037	1	284	0.0035	230	c.411 others(247): Show c.4112+605_4112+606insTGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCAGGTGAGGATGGGAAGGTGGGCTGTGGCAGGTGAGGATGGGAAG GTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGAT GGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAG GCGAGGGGACAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGG GC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CD226_chr18_69848274_69952873	69894556	G G	GAGGGGAG others(223): Show GAGGGGAGGGAGGGGAGGGGAGGGGAGGGAGGGGAGGGGAGGGAAGGGAG GGAAGGGAGGGAAGGGGGGAGGGGAGGGGAGGGGAGCAGATGGGGGCAGG GGAGGGGAGTGGATGGGGGCAGGGGAGGGGAGGGGAGGGGGAGGGAGACC GGAAGGGGAGGGAGACGGGGAGGGGAGGGAGACGGGGAGGGGGAGGGCAG GGGAGGGGAAGGGCAGGGGAGGGGAAGGGGA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0067 a0001c0001t0024g0067	1	256	0.0039	230	c.727 others(247): Show c.727+1144_727+1145insTCCCCTTCCCCTCCCCTGCCCTTCCCCT CCCCTGCCCTCCCCCTCCCCGTCTCCCTCCCCTCCCCGTCTCCCTCCCCT TCCGGTCTCCCTCCCCCTCCCCTCCCCTCCCCTGCCCCCATCCACTCCCC TCCCCTGCCCCCATCTGCTCCCCTCCCCTCCCCTCCCCCCTTCCCTCCCT TCCCTCCCTTCCCTCCCCTCCCCTCCCTCCCCTCCCCTCCCCTCCCTCCC CT	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	3/5			chr18	TogoVar
CD226_chr18_69848274_69952873	69894561	A A	AGGGGAGG others(223): Show AGGGGAGGGGAGGGAGGGGAGGGGAGGGGAGGGAGGGAAGGGAGGGAAGG GAGGGAAGGGAGGGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGCAGA TGGGGGCAGGGGAGGGGAGTGGATGGGGGCAGGGGAGGGGAGGGGAGGGG GAGGGAGACCGGAAGGGGAGGGAGACGGGGAGGGGAGGGAGACGGGGAGG GGGAGGGCAGGGGAGGGGAAGGGCAGGGGAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG00544.hp2 others(77): Show HG00280.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01952.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02040.hp2 HG02074.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02258.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02602.hp1 HG02738.hp1 HG02809.hp2 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03225.hp1 HG03453.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03688.hp1 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18941.hp1 NA18941.hp2 NA18945.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18960.hp1 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18984.hp1 NA19060.hp2 NA19068.hp1 NA20300.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0002c0004 others(2): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003 a0005c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0064 others(55): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0064 a0001c0001t0134 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0002c0002t0013 a0002c0002t0014 a0002c0002t0015 a0002c0002t0019 a0002c0002t0020 a0002c0002t0027 a0002c0002t0029 a0002c0002t0030 a0002c0002t0035 a0002c0002t0036 a0002c0002t0037 a0002c0002t0038 a0002c0002t0039 a0002c0002t0040 a0002c0002t0046 a0002c0002t0047 a0002c0002t0051 a0002c0002t0052 a0002c0002t0053 a0002c0002t0067 a0002c0002t0068 a0002c0002t0069 a0002c0002t0072 a0002c0002t0073 a0002c0002t0075 a0002c0002t0076 a0002c0002t0095 a0002c0002t0096 a0002c0002t0097 a0002c0002t0098 a0002c0002t0099 a0002c0002t0101 a0002c0002t0102 a0002c0002t0104 a0002c0002t0105 a0002c0002t0106 a0002c0002t0108 a0002c0002t0111 a0002c0002t0112 a0002c0002t0113 a0002c0002t0116 a0002c0002t0117 a0002c0002t0118 a0002c0002t0119 a0002c0002t0122 a0002c0002t0144 a0002c0004t0065 a0003c0003t0093 a0005c0006t0036	a0001c0001t0002g0124 a0001c0001t0002g0216 a0001c0001t0003g0086 others(77): Show a0001c0001t0002g0124 a0001c0001t0002g0216 a0001c0001t0003g0086 a0001c0001t0064g0096 a0001c0001t0134g0187 a0002c0002t0006g0140 a0002c0002t0006g0217 a0002c0002t0006g0219 a0002c0002t0006g0238 a0002c0002t0007g0145 a0002c0002t0007g0153 a0002c0002t0007g0228 a0002c0002t0008g0037 a0002c0002t0008g0039 a0002c0002t0008g0041 a0002c0002t0008g0095 a0002c0002t0009g0162 a0002c0002t0010g0150 a0002c0002t0010g0151 a0002c0002t0010g0165 a0002c0002t0010g0184 a0002c0002t0013g0060 a0002c0002t0014g0059 a0002c0002t0014g0065 a0002c0002t0015g0048 a0002c0002t0019g0160 a0002c0002t0019g0215 a0002c0002t0020g0152 a0002c0002t0020g0229 a0002c0002t0027g0026 a0002c0002t0027g0027 a0002c0002t0029g0040 a0002c0002t0029g0058 a0002c0002t0030g0075 a0002c0002t0035g0234 a0002c0002t0035g0236 a0002c0002t0036g0147 a0002c0002t0037g0115 a0002c0002t0037g0206 a0002c0002t0038g0180 a0002c0002t0038g0224 a0002c0002t0039g0156 a0002c0002t0039g0186 a0002c0002t0040g0171 a0002c0002t0040g0173 a0002c0002t0046g0003 a0002c0002t0047g0002 a0002c0002t0051g0011 a0002c0002t0052g0006 a0002c0002t0053g0005 a0002c0002t0067g0028 a0002c0002t0068g0043 a0002c0002t0069g0056 a0002c0002t0072g0061 a0002c0002t0073g0063 a0002c0002t0075g0062 a0002c0002t0076g0090 a0002c0002t0095g0191 a0002c0002t0096g0111 a0002c0002t0097g0131 a0002c0002t0098g0149 a0002c0002t0099g0155 a0002c0002t0101g0237 a0002c0002t0102g0138 a0002c0002t0104g0227 a0002c0002t0105g0163 a0002c0002t0106g0222 a0002c0002t0108g0182 a0002c0002t0111g0196 a0002c0002t0112g0119 a0002c0002t0113g0130 a0002c0002t0116g0110 a0002c0002t0117g0117 a0002c0002t0118g0179 a0002c0002t0119g0233 a0002c0002t0122g0133 a0002c0002t0144g0255 a0002c0004t0065g0091 a0003c0003t0093g0137 a0005c0006t0036g0210	80	256	0.3125	230	c.727 others(247): Show c.727+1139_727+1140insCTCCCCTGCCCTTCCCCTCCCCTGCCCT CCCCCTCCCCGTCTCCCTCCCCTCCCCGTCTCCCTCCCCTTCCGGTCTCC CTCCCCCTCCCCTCCCCTCCCCTGCCCCCATCCACTCCCCTCCCCTGCCC CCATCTGCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTTCCCTCCCTTCC CTCCCTTCCCTCCCTTCCCTCCCTCCCCTCCCCTCCCCTCCCTCCCCTCC CC	CD226	ENSG00000150637.9	transcript	ENST00000582621.6	protein_coding	3/5			chr18	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATA others(223): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACA TATATGTGTGTGTATACGCATACACACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0011 a0002c0002t0007g0011	1	442	0.0023	230	c.27 others(241): Show c.2752_*2753insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACACATATATGTGTGTGTATACGCATACACACATAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATA others(223): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACA TATGTGTGTGTATACGCATACACACACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0073 a0002c0002t0002g0073	1	442	0.0023	230	c.27 others(241): Show c.2752_*2753insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACACATATGTGTGTGTATACGCATACACACACATAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATA others(223): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACACA TATATGTGTGTGTATACGCATACACACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG04184.hp1 NA20905.hp1 HG02602.hp1 HG04184.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0030 a0002c0002t0002 a0002c0002t0030	a0002c0002t0002g0003 a0002c0002t0002g0080 a0002c0002t0030g0008 a0002c0002t0002g0003 a0002c0002t0002g0080 a0002c0002t0030g0008	3	442	0.0068	230	c.27 others(241): Show c.2752_*2753insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACATATATGTGTGTGTAT ACGCATACACACACATATATGTGTGTGTATACGCATACACACATAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATA others(223): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACATATATGTG TGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACACA TATATGTGTGTGTATACGCATACACACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18976.hp2 NA18976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0067 a0002c0002t0002g0067	1	442	0.0023	230	c.27 others(241): Show c.2752_*2753insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTAT ACGCATACACACACATATATGTGTGTGTATACGCATACACACATAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATA others(223): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGTATATACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACACA TATATGTGTGTGTATACGCATACACACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04199.hp2 HG04115.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0012 a0002c0002t0002g0003 a0002c0002t0002g0012	2	442	0.0045	230	c.27 others(241): Show c.2752_*2753insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGTATATACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACATATATGTGTGTGTAT ACGCATACACACACATATATGTGTGTGTATACGCATACACACATAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATA others(223): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATGCGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACATATATGTG TGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATA TATGTGTGTGTATACGCATACACACACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0025 a0002c0002t0025	a0002c0002t0025g0033 a0002c0002t0025g0033	1	442	0.0023	230	c.27 others(241): Show c.2752_*2753insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATGCGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTAT ACGCATACACACATATATGTGTGTGTATACGCATACACACACATAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATA others(223): Show CACATATATGTGTGTATACGCATACACACATATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACACA TATATGTGTGTGTATACGCATACACACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0019 a0002c0002t0002g0019	1	442	0.0023	230	c.27 others(241): Show c.2752_*2753insACATATATGTGTGTATACGCATACACACATATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACATATATGTGTGTGTAT ACGCATACACACACATATATGTGTGTGTATACGCATACACACATAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATG others(223): Show CACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACA TATATGTGTGTGTATACGCATACACACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0003 a0002c0002t0007g0003	1	442	0.0023	230	c.27 others(241): Show c.2752_*2753insACATATGTGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACACATATATGTGTGTGTATACGCATACACACATAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATG others(223): Show CACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACATA TATGTGTGTGTATACGCATACACACACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp2 NA18974.hp2 NA19012.hp2 others(1): Show NA18940.hp2 NA18974.hp2 NA19012.hp2 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0008 a0002c0002t0002g0058 a0002c0002t0002g0003 a0002c0002t0002g0008 a0002c0002t0002g0058	4	442	0.0091	230	c.27 others(241): Show c.2752_*2753insACATATGTGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACATATATGTGTGTGTATACGCATACACACACATAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATG others(223): Show CACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACATATATGTG TGTGTATACGCATACACACACATATATGTGTGTGTATACGCATACACACA TATATGTGTGTGTATACGCATACACACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0068 a0002c0002t0002g0068	1	442	0.0023	230	c.27 others(241): Show c.2752_*2753insACATATGTGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGT ATACGCATACACACATATATGTGTGTGTATACGCATACACACATAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CDH13_chr16_82621969_83805640	83031167	T T	TATATACA others(223): Show TATATACATGCGCATGTATACACCATATACATGCGCATGTATACACCATA TACATGCGCATGTATACACCATATACATGCGCATGTATACACCATATACA TGCGCATGTATACACCATATACATGCGCATGTATACACCATATACATGCG CATGTATACACCATATACATGCGCATGTATACACCATATACATGCGCATG TATACACCATATACATGCGCATGTATACACC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00738.hp1 HG01168.hp1 others(8): Show HG00438.hp2 HG00738.hp1 HG01168.hp1 HG02257.hp1 HG02896.hp1 HG02897.hp2 HG03209.hp1 HG03471.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0002c0012	a0001c0001t0011 a0001c0001t0027 a0001c0002t0001 others(7): Show a0001c0001t0011 a0001c0001t0027 a0001c0002t0001 a0001c0002t0009 a0001c0002t0010 a0001c0002t0022 a0001c0004t0016 a0001c0006t0031 a0001c0007t0001 a0002c0012t0002	a0001c0001t0011g0081 a0001c0001t0027g0055 a0001c0002t0001g0025 others(8): Show a0001c0001t0011g0081 a0001c0001t0027g0055 a0001c0002t0001g0025 a0001c0002t0001g0030 a0001c0002t0009g0075 a0001c0002t0010g0064 a0001c0002t0022g0031 a0001c0004t0016g0056 a0001c0006t0031g0005 a0001c0007t0001g0080 a0002c0012t0002g0019	11	110	0.1000	230	c.158 others(245): Show c.158-710_158-709insACACCATATACATGCGCATGTATACACCAT ATACATGCGCATGTATACACCATATACATGCGCATGTATACACCATATAC ATGCGCATGTATACACCATATACATGCGCATGTATACACCATATACATGC GCATGTATACACCATATACATGCGCATGTATACACCATATACATGCGCAT GTATACACCATATACATGCGCATGTATACACCATATACATGCGCATGTAT	CDH13	ENSG00000140945.17	transcript	ENST00000567109.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CENPE_chr4_103100811_103203343	103112688	A A	ATATATAA others(223): Show ATATATAAGTGTATATATATACTTATAAGTATATATAAGTGTATATATAT ACTTATAAGTATATATAAGTCTGCATATATACTTGTAAGTATATATAAGT GTATATATATACTTATAAGTATATAAGTGTATATATATACTTATAAGTAT ATAAGTGTATATATATACTTATAAGTATATAAGTGTATATATATACTTAT AAGTATATAAGTGTATATATATACTTATAAG	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA19240.hp1 HG03041.hp1 NA19240.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0150 a0001c0013t0001g0151 a0001c0013t0001g0150 a0001c0013t0001g0151	2	320	0.0063	230	c.754 others(249): Show c.7541-1678_7541-1677insCTTATAAGTATATATATACACTTATA TACTTATAAGTATATATATACACTTATATACTTATAAGTATATATATACA CTTATATACTTATAAGTATATATATACACTTATATACTTATAAGTATATA TATACACTTATATATACTTACAAGTATATATGCAGACTTATATATACTTA TAAGTATATATATACACTTATATATACTTATAAGTATATATATACACTTA TATA	CENPE	ENSG00000138778.14	transcript	ENST00000265148.9	protein_coding	46/48			chr4	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(223): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTC CTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCT CCTCCCTTCCCCCTTCCCCCTTACTCCCTTCCCCCTTACCCCCTTCCTCT CTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01891.hp2 HG03139.hp1 HG01109.hp1 HG01891.hp2 HG03139.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0008 a0006c0009t0001g0008	3	354	0.0085	230	c.69 others(241): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTT CTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCT TTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCCCCTTACTCCCTTCCCCC TTACCCCCTTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CHCHD6_chr3_126699240_126965420	126863138	C C	CACCACCA others(223): Show CACCACCATGCACCCACCTCCCCCTCCCCACCCCAACCACCACCCACCTC CACCTCACCAACCACCACCTCCCACCCTCACCAACCCATCCACCACCTCC TCCATCACCACCACCTCCCTCCATCCACCTCCTCCCTACCACCACCACCA CCTCCTCCTCCCACCACCTCTCCCACCACCAACACCACCTCCTCCCCCTC ACCACCTCCTTCCACCCCATCACCACCTCCT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0040 a0002c0002t0001g0040	1	216	0.0046	230	c.495 others(249): Show c.495+10408_495+10409insACCACCATGCACCCACCTCCCCCTCC CCACCCCAACCACCACCCACCTCCACCTCACCAACCACCACCTCCCACCC TCACCAACCCATCCACCACCTCCTCCATCACCACCACCTCCCTCCATCCA CCTCCTCCCTACCACCACCACCACCTCCTCCTCCCACCACCTCTCCCACC ACCAACACCACCTCCTCCCCCTCACCACCTCCTTCCACCCCATCACCACC TCCT	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7			chr3	TogoVar
CMKLR2_chr2_206170316_206218371	206175909	G G	GCATTTCA others(223): Show GCATTTCATTTAAGTTGCAGAAAAAAATTATGCGGATCCTTCCTAAGTAT TTTCAGTTTTTTAAAAAAATTTATTGCCACATCACAAGGAGTCAAGAGGA TCCTTCCTAAGTTTCATATCCACACAAAAATGTGATGCCTATATAGTGAC CAGAAACAATAACTATGAAAGTGGAGTCGGCTCTCTATCTTGGAAACAAT TTTAATCTGAAAGCATCAGTCAGAGGACCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0295 a0001c0001t0014g0295	1	322	0.0031	230	c.27 others(239): Show c.270_*271insTGGGTCCTCTGACTGATGCTTTCAGATTAAAATTGT TTCCAAGATAGAGAGCCGACTCCACTTTCATAGTTATTGTTTCTGGTCAC TATATAGGCATCACATTTTTGTGTGGATATGAAACTTAGGAAGGATCCTC TTGACTCCTTGTGATGTGGCAATAAATTTTTTTAAAAAACTGAAAATACT TAGGAAGGATCCGCATAATTTTTTTCTGCAACTTAAATGAAATG	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding	2/2	270		chr2	TogoVar
CNTNAP2_chr7_146111801_148425998	146535114	G G	GATATATA others(223): Show GATATATATATTATATATATTATATATATTATATATTATATATATATAAT ATATATATTATATATATTATATATAATATATATGTTATATATTATATATA TTATATATAATATATATGTTATATATTATATATATTATATATTATATATA TGTTATATATTATATATATTATATATAATATATATAATATATAACATATA TATAATATATAACATATATATTATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0019 a0001c0009t0019	a0001c0009t0019g0027 a0001c0009t0019g0027	1	40	0.0250	230	c.98- others(249): Show c.98-239149_98-239148insATTATATATATTATATATATTATATA TTATATATATATAATATATATATTATATATATTATATATAATATATATGT TATATATTATATATATTATATATAATATATATGTTATATATTATATATAT TATATATTATATATATGTTATATATTATATATATTATATATAATATATAT AATATATAACATATATATAATATATAACATATATATTATATATATAATAT ATAT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(223): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTG GGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGGAGTGCG GGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGGGGGAGGGGAGTGCG GGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGGAAGGGGGAGTGCGG GGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02970.hp2 HG03471.hp1 HG02258.hp1 HG02970.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0022 a0001c0001 a0001c0022	a0001c0001t0001 a0001c0001t0002 a0001c0022t0026 a0001c0001t0001 a0001c0001t0002 a0001c0022t0026	a0001c0001t0001g0197 a0001c0001t0002g0198 a0001c0022t0026g0199 a0001c0001t0001g0197 a0001c0001t0002g0198 a0001c0022t0026g0199	3	290	0.0103	230	c.-11 others(245): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGGAGTGCGG GGGAGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGG GGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGGG GGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGGGG AAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGTGGGGG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL22A1_chr8_138583235_138919041	138806074	G G	GTGTGATG others(223): Show GTGTGATGGTGTGTGTGTGAGATGGTGTAGTTAATGCTGTGTGATGTGTG TGTGAGATGGTGCGTGTGTGATGGCGTGTGTGTGATGGTGTAGGTAATGG TGTGTGGTGGTGTATGATTGTGTGTGAGGGTGTATGTGATGGTGTGTGTA ATGGTGTGTGATGGTGTGTGATGGTGTAGGTTAATGGTGTGTGGTGGTGT ATGTGTGTGATGGTGTGTGTGTGGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02895.hp1 HG02895.hp2 others(1): Show HG02647.hp1 HG02895.hp1 HG02895.hp2 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0014 a0001c0044 others(1): Show a0001c0002 a0001c0014 a0001c0044 a0002c0023	a0001c0002t0005 a0001c0014t0011 a0001c0044t0002 others(1): Show a0001c0002t0005 a0001c0014t0011 a0001c0044t0002 a0002c0023t0001	a0001c0002t0005g0151 a0001c0014t0011g0091 a0001c0044t0002g0065 others(1): Show a0001c0002t0005g0151 a0001c0014t0011g0091 a0001c0044t0002g0065 a0002c0023t0001g0036	4	158	0.0253	230	c.149 others(249): Show c.1494+1693_1494+1694insACACACACCACACACACACCATCACA CACATACACCACCACACACCATTAACCTACACCATCACACACCATCACAC ACCATTACACACACCATCACATACACCCTCACACACAATCATACACCACC ACACACCATTACCTACACCATCACACACACGCCATCACACACGCACCATC TCACACACACATCACACAGCATTAACTACACCATCTCACACACACACCAT CACA	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	10/64			chr8	TogoVar
COL22A1_chr8_138583235_138919041	138806074	G G	GTGTGATG others(223): Show GTGTGATGGTGTGTGTGTGAGATGGTGTAGTTAATGCTGTGTGATGTGTG TGTGAGATGGTGCGTGTGTGATGGCGTGTGTGTGATGGTGTAGGTAATGG TGTGTGGTGGTGTATGATTGTGTGTGAGGGTGTGTGTGATGGTGTGTGTA ATGGTGTGTGATGGTGTGTGATGGTGTAGGTTAATGGTGTGTGGTGGTGT ATGTGTGTGATGGTGTGTGTGTGGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02970.hp1 HG06807.hp1 HG01884.hp2 HG02970.hp1 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0005 a0002c0022 a0001c0006 a0002c0005 a0002c0022	a0001c0006t0001 a0002c0005t0003 a0002c0022t0002 a0001c0006t0001 a0002c0005t0003 a0002c0022t0002	a0001c0006t0001g0113 a0002c0005t0003g0005 a0002c0022t0002g0028 a0001c0006t0001g0113 a0002c0005t0003g0005 a0002c0022t0002g0028	3	158	0.0190	230	c.149 others(249): Show c.1494+1693_1494+1694insACACACACCACACACACACCATCACA CACATACACCACCACACACCATTAACCTACACCATCACACACCATCACAC ACCATTACACACACCATCACACACACCCTCACACACAATCATACACCACC ACACACCATTACCTACACCATCACACACACGCCATCACACACGCACCATC TCACACACACATCACACAGCATTAACTACACCATCTCACACACACACCAT CACA	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	10/64			chr8	TogoVar
COL4A1_chr13_110143963_110312157	110255668	C C	CAAGAAGG others(223): Show CAAGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAA GGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCA GGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGG GGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAAGGGGGA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0004 a0004	a0004c0021 a0004c0021	a0004c0021t0001 a0004c0021t0001	a0004c0021t0001g0063 a0004c0021t0001g0063	1	344	0.0029	230	c.85- others(247): Show c.85-12935_85-12934insTCCCCCTTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCT TCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCC CCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTC TT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255766	A A	AGGGGAAA others(223): Show AGGGGAAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGG GGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGA AGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0052 a0001c0010t0001g0052	1	344	0.0029	230	c.85- others(247): Show c.85-13033_85-13032insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTTCC CC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355841	G G	GTGGGGGA others(223): Show GTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCAC TAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTG GGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACT AGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGG GGGTGGAGGGCTGTACAGCTCACCTGTGTGA	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0167 a0001c0028t0001g0167	1	372	0.0027	230	c.100 others(247): Show c.100-1631_100-1630insTGGGGGAGGGCTGCACTAGCTCACCTGT GTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCT GCACTAGCTCACCTGTGTGTGGGGGGGAGGGCTGCACTAGCTCACCTGTG TGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTG CACTAGCTCACCTGTGTGTGGGGGTGGAGGGCTGTACAGCTCACCTGTGT GA	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355841	G G	GTGGGGGA others(223): Show GTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCAC TAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTG TGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACT AGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGG GGGTGGAGGGCTGTACAGCTCACCTGTGTGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00738.hp2 HG01123.hp2 others(3): Show HG00544.hp1 HG00738.hp2 HG01123.hp2 HG01934.hp2 HG01993.hp2 NA18981.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0014 a0002c0038 a0004c0009 others(3): Show a0001c0014 a0002c0038 a0004c0009 a0005c0020 a0005c0021 a0005c0043	a0001c0014t0006 a0002c0038t0002 a0004c0009t0003 others(3): Show a0001c0014t0006 a0002c0038t0002 a0004c0009t0003 a0005c0020t0006 a0005c0021t0006 a0005c0043t0001	a0001c0014t0006g0095 a0002c0038t0002g0360 a0004c0009t0003g0055 others(3): Show a0001c0014t0006g0095 a0002c0038t0002g0360 a0004c0009t0003g0055 a0005c0020t0006g0097 a0005c0021t0006g0054 a0005c0043t0001g0137	6	372	0.0161	230	c.100 others(247): Show c.100-1631_100-1630insTGGGGGAGGGCTGCACTAGCTCACCTGT GTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCT GCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTG TGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTG CACTAGCTCACCTGTGTGTGGGGGTGGAGGGCTGTACAGCTCACCTGTGT GA	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47			chr13	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(223): Show CTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCG TCTCCTCTCTCTCCGTCTCCTCTCTCTCCCTCTCCTCTCTCTCCGTCTCC TCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCT CTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCC TCTCCTCTCTCTCCCTCTCCTCTCTCTCCCT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0092 a0001c0002t0001g0092	1	350	0.0029	230	c.510 others(249): Show c.510+24113_510+24114insTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCT CCCTCTCCTCTCTCTCCGTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTC TCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTC TCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCT CCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(223): Show CTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCG TCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCC TCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCT CTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCCTCTCCTCTCTCTCCC TCTCCTCTCTCTCCCTCTCCTCTCTCTCCCT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0161 a0001c0002t0001g0161	1	350	0.0029	230	c.510 others(249): Show c.510+24113_510+24114insTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCT CCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTC TCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTCTCTCTCCGTCTCCTC TCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCT CCCT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
CUX2_chr12_111029165_111355554	111332298	A A	AATTTTTG others(223): Show AATTTTTGTATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTGTTAGCCAGGATGG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0042 a0001c0014t0001g0042	1	100	0.0100	230	c.292 others(249): Show c.2927-2128_2927-2127insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGATTTTTGTATT TTTT	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
CYP20A1_chr2_203234018_203311026	203251793	G G	GTGTATAT others(223): Show GTGTATATATATATATATATATATATATATGTGTATATATATATATATAT ATATATATATGTGTGTATATATATATATATATATGTGTATATATATATAT ATATATATATATATATGTGTATATATATATATATATATATGTGTGTATAT ATATATATATATATATATATGTGTATATATATATATATATATATATGTGT ATATATATATATATATATATATATGTGTATA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0098 a0002c0002t0098	a0002c0002t0098g0283 a0002c0002t0098g0283	1	334	0.0030	230	c.290 others(245): Show c.290-173_290-172insGTATATATATATATATATATATATATATGT GTATATATATATATATATATATATATATGTGTGTATATATATATATATAT ATGTGTATATATATATATATATATATATATATATGTGTATATATATATAT ATATATATGTGTGTATATATATATATATATATATATATGTGTATATATAT ATATATATATATATGTGTATATATATATATATATATATATATGTGTATAT	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYTH1_chr17_78669048_78787273	78713546	T T	TCCTATCT others(223): Show TCCTATCTCAAGACTGCTATATACCCTGAGAAGCCAACTTGTATCATTCT AAACTGGAAACTCTAAATCGTTGCTTTCTTTTCAGAATCTGAGCACTCAA CCATTCTGGGTTTAATATTCACACATGACAATTTTTCTGGATGGACACAA TCTACCCAGCAGAAGCAAGACTAAATCCAAGGTCCATATAATGAAGCTGA TGAAAAACAGAGCAATCGTATAAAAGAAATC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0190 a0001c0001t0018g0190	1	378	0.0027	230	c.23- others(245): Show c.23-4044_23-3815dupGATTTCTTTTATACGATTGCTCTGTTTTTC ATCAGCTTCATTATATGGACCTTGGATTTAGTCTTGCTTCTGCTGGGTAG ATTGTGTCCATCCAGAAAAATTGTCATGTGTGAATATTAAACCCAGAATG GTTGAGTGCTCAGATTCTGAAAAGAAAGCAACGATTTAGAGTTTCCAGTT TAGAATGATACAAGTTGGCTTCTCAGGGTATATAGCAGTCTTGAGATAGG	CYTH1	ENSG00000108669.18	transcript	ENST00000446868.8	protein_coding	1/13			chr17	TogoVar
DAGLB_chr7_6404129_6452954	6421307	T T	TCAGCGCG others(223): Show TCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGC GCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGG AGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCG CGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGCAGCGCGGGAGGCGCAGGC AGCGCGGGAGGCGCAGGCAGCGCGGGAGGCG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02055.hp2 HG02818.hp1 others(3): Show HG00609.hp1 HG02055.hp2 HG02818.hp1 NA18964.hp1 NA19091.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0010 a0002c0003 others(1): Show a0001c0001 a0001c0010 a0002c0003 a0002c0009	a0001c0001t0001 a0001c0001t0005 a0001c0010t0001 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0010t0001 a0002c0003t0007 a0002c0009t0001	a0001c0001t0001g0331 a0001c0001t0005g0355 a0001c0010t0001g0319 others(3): Show a0001c0001t0001g0331 a0001c0001t0005g0355 a0001c0010t0001g0319 a0002c0003t0007g0008 a0002c0009t0001g0084 a0002c0009t0001g0086	6	380	0.0158	230	c.121 others(247): Show c.1218+419_1218+420insCGCCTCCCGCGCTGCCTGCGCCTCCCGC GCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTC CCGCGCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTCCCGCGCTGCCTGCG CCTCCCGCGCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTCCCGCGCTGCC TGCGCCTCCCGCGCTGCCTGCGCCTCCCGCGCTGCCTGCGCCTCCCGCGC TG	DAGLB	ENSG00000164535.15	transcript	ENST00000297056.11	protein_coding	9/14			chr7	TogoVar
DCAF10_chr9_37795797_37872664	37808748	A A	ATATATAA others(223): Show ATATATAAAGTATATATTTATATAATATATATTATATATAATATATATTA TATAAAATATATATTTATATAATATATATTATATATATATATATTATATA TAATATATATTTATAAAAATATATTTATATATAATATATATTATATATAA TATATATTATATAAATATATATTATATAAAATATATATTTATATAAAAAT GTATTATATTATATATTATATAAATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0045 a0001c0001t0008g0045	1	356	0.0028	230	c.539 others(247): Show c.539+7345_539+7346insTATAAAGTATATATTTATATAATATATA TTATATATAATATATATTATATAAAATATATATTTATATAATATATATTA TATATATATATATTATATATAATATATATTTATAAAAATATATTTATATA TAATATATATTATATATAATATATATTATATAAATATATATTATATAAAA TATATATTTATATAAAAATGTATTATATTATATATTATATAAATATATAT TA	DCAF10	ENSG00000122741.16	transcript	ENST00000377724.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCBLD2_chr3_98790941_98906695	98837434	A A	ACCTCCCT others(223): Show ACCTCCCTCCCGGACGGGGCGGCTGGCCATGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGTGCTGACCCCCCCA TCTCCCTCCTGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGCAGGGGACCGACCCCCCCACCTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02165.hp2 HG04228.hp2 others(2): Show HG00280.hp2 HG02165.hp2 HG04228.hp2 NA19084.hp1 NA20905.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0007 a0003c0006t0044 a0003c0006t0007 a0003c0006t0044	a0003c0006t0007g0164 a0003c0006t0007g0167 a0003c0006t0007g0168 others(2): Show a0003c0006t0007g0164 a0003c0006t0007g0167 a0003c0006t0007g0168 a0003c0006t0007g0169 a0003c0006t0044g0158	5	330	0.0152	230	c.571 others(249): Show c.571+12026_571+12027insGAGGTGGGGGGGTCGGTCCCCTGCCC GGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCAGGAG GGAGATGGGGGGGTCAGCACCCCCACCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCATGGCCAGCCGCCCCGTCCGGGAGG GAGG	DCBLD2	ENSG00000057019.16	transcript	ENST00000326840.11	protein_coding	3/15			chr3	TogoVar
DEPDC1B_chr5_60591912_60705166	60668137	T T	TTATATAT others(223): Show TTATATATATATATAAAATGGATATTTTATATATATATATAAAATGGATA TTTTATATATATATATAAAATGGATATTTTATATATATATATAAAATGGA TATTTTATATATATATATAAAATGGATATTTTATATATATATATAAAATG GATATTTTATATATATATAAAATGGATATTTTATATATATATAAAATGGA TATTTTATATATATATAAAATGGATATTTTA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA20129.hp2 NA18906.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0034 a0001c0001t0001g0015 a0001c0001t0001g0034	2	292	0.0069	230	c.314 others(249): Show c.314+18824_314+18825insTAAAATATCCATTTTATATATATATA AAATATCCATTTTATATATATATAAAATATCCATTTTATATATATATAAA ATATCCATTTTATATATATATATAAAATATCCATTTTATATATATATATA AAATATCCATTTTATATATATATATAAAATATCCATTTTATATATATATA TAAAATATCCATTTTATATATATATATAAAATATCCATTTTATATATATA TATA	DEPDC1B	ENSG00000035499.13	transcript	ENST00000265036.10	protein_coding	2/10			chr5	TogoVar
DFFB_chr1_3852476_3890429	3868664	A A	ACCACACC others(223): Show ACCACACCAAGCCACACCACACCAGGCCACACCACACCATACCACACCAC ACCAGGCCACACCACACCATACCACACCACACCAGGCCACACCACACCAA GCCACACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCAC ACCACACCAGGCCACACCACACCACACCACACCACGCCACACCACACCAG GCCACACCACACCAGGCCACACCACACCACG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp2 NA20300.hp2 HG02258.hp1 HG02451.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0018 a0001c0001t0004 a0001c0001t0007 a0001c0001t0018	a0001c0001t0004g0261 a0001c0001t0007g0262 a0001c0001t0018g0047 a0001c0001t0004g0261 a0001c0001t0007g0262 a0001c0001t0018g0047	3	404	0.0074	230	c.510 others(245): Show c.510+619_510+620insAGCCACACCACACCAGGCCACACCACACCA TACCACACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCA CACCACACCAAGCCACACCACACCAGGCCACACCACACCATACCACACCA CACCAGGCCACACCACACCAGGCCACACCACACCACACCACACCACGCCA CACCACACCAGGCCACACCACACCAGGCCACACCACACCACGCCACACCA	DFFB	ENSG00000169598.17	transcript	ENST00000378209.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
DIP2B_chr12_50499985_50753657	50593816	T T	TCTCCCCT others(223): Show TCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCC CTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC TCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01074.hp1 HG02698.hp1 HG00738.hp2 HG01074.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0274 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0274	3	284	0.0106	230	c.101 others(249): Show c.101-32145_101-32144insCTCCCCCCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	478386	G G	GGGGAGAG others(223): Show GGGGAGAGGAGGGGAGGGGAGAAGAAGGGAGGGGAGAGGAGGCGAGGGGA GAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGA GGGGAGGGGAGGGGAGAAGAAGGGAGAAGAAGGGAAGGGAGGGGAGGGGA GGGGAGGGGAAGGGAGGGGAGAGGAGGAGAGAAGGAGAGGGGCGGGGCGG GGCAGGGCGGGGCAGGGAGGGGAGGGGCGAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	88	0.0114	230	c.158 others(247): Show c.158-5838_158-5837insTTCGCCCCTCCCCTCCCTGCCCCGCCCT GCCCCGCCCCGCCCCTCTCCTTCTCTCCTCCTCTCCCCTCCCTTCCCCTC CCCTCCCCTCCCCTCCCTTCCCTTCTTCTCCCTTCTTCTCCCCTCCCCTC CCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTTC TTCTCCCCTCGCCTCCTCTCCCCTCCCTTCTTCTCCCCTCCCCTCCTCTC CC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	556311	C C	CCCCTCCC others(223): Show CCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCCTCCCACA GCCGGATCCCAGGACGGCACCCACCCACCCCCTCCCACAGCCGGATCCCA GGACGGCACCCACCCACCCCCTCCCACAGCCGGATCCCAGGACAGCACCC ACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCC CACAGCCGGATCCCAGGACGGCACCCACCCA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0060 a0001c0007t0007g0060	1	88	0.0114	230	c.86- others(247): Show c.86-69782_86-69781insTGGGTGGGTGCCGTCCTGGGATCCGGCT GTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTG GGTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGGGGGTGGGTGGGTGCCG TCCTGGGATCCGGCTGTGGGAGGGGGTGGGTGGGTGCCGTCCTGGGATCC GGCTGTGGGAGGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAG GG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DNAJC25_chr9_111626334_111659345	111641625	T T	TGGGGGGG others(223): Show TGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0044 a0001c0001t0006g0044	2	412	0.0049	230	c.337 others(247): Show c.337-5475_337-5474insGTCAGCCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG TTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG GTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GG	DNAJC25	ENSG00000059769.20	transcript	ENST00000313525.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar

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