view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL9A2_chr1_40295489_40322286 | 40318314 | A | ATATATAT others(24): Show |
upstream_gene_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 129 | 0.0078 | 31 | c.-11 others(42): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 1029 | chr1 | TogoVar | |||||||
COL9A2_chr1_40295489_40322286 | 40318314 | A | ATATATAT others(24): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0096 | 1 | 129 | 0.0078 | 31 | c.-11 others(42): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 1029 | chr1 | TogoVar | |||||||
COL9A2_chr1_40295489_40322286 | 40318315 | T | TATATATA others(24): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00741.hp2 NA18747.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0021 others(1): Show |
6 | 422 | 0.0142 | 31 | c.-11 others(42): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 1030 | chr1 | TogoVar | |||||||
COL9A3_chr20_62812050_62846159 | 62824110 | C | CGGAGTGG others(24): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0021 | a0021c0050 | a0021c0050t0002 | a0021c0050t0002g0137 | 1 | 402 | 0.0025 | 31 | c.520 others(46): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 10/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COL9A3_chr20_62812050_62846159 | 62824110 | C | CGGAGTGG others(24): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02145.hp2 HG03195.hp2 others(4): Show |
a0006a0008a0013others(1): Show | a0006c0020a0008c0017a0013c0051others(1): Show | a0006c0020t0001a0008c0017t0001a0013c0051t0001others(1): Show | a0006c0020t0001g0159 a0006c0020t0001g0160 a0008c0017t0001g0343 others(4): Show |
7 | 408 | 0.0172 | 31 | c.520 others(46): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 10/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COLEC11_chr2_3590112_3649644 | 3605279 | A | AGGGGAGT others(24): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0052 | 1 | 373 | 0.0027 | 31 | c.130 others(46): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 406540 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02630.hp2 |
a0002a0003 | a0002c0001a0003c0002 | a0002c0001t0205a0003c0002t0175 | a0002c0001t0205g0258 a0003c0002t0175g0118 |
2 | 364 | 0.0055 | 31 | c.59- others(48): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
COLEC12_chr18_311737_505701 | 478910 | A | AACTTGAC others(24): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01074.hp2 HG01106.hp2 others(45): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0004a0001c0005others(6): Show | a0001c0003t0001a0001c0003t0003a0001c0003t0006others(40): Show | a0001c0003t0001g0300 a0001c0003t0003g0291 a0001c0003t0006g0248 others(45): Show |
48 | 363 | 0.1322 | 31 | c.58+ others(46): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
COMMD10_chr5_116080025_116298287 | 116129710 | T | TATATATA others(24): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292 | 1 | 340 | 0.0029 | 31 | c.400 others(48): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 4/6 | chr5 | TogoVar | |||||||
COMMD10_chr5_116080025_116298287 | 116129710 | T | TATATATA others(24): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02809.hp1 HG02886.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0075 a0001c0001t0001g0076 others(4): Show |
8 | 347 | 0.0231 | 31 | c.400 others(48): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 4/6 | chr5 | TogoVar | |||||||
COMMD10_chr5_116080025_116298287 | 116158293 | T | TCCCCTCT others(24): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 | 1 | 348 | 0.0029 | 31 | c.510 others(50): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
COP1_chr1_175939831_176212286 | 176209307 | C | CCCCCCCA others(24): Show |
upstream_gene_variant | MODIFIER | HG01257.hp1 HG01934.hp1 HG02300.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0190 others(2): Show |
5 | 262 | 0.0191 | 31 | c.-23 others(42): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 2022 | chr1 | TogoVar | |||||||
COPE_chr19_18894514_18924387 | 18902716 | A | AAAGGAAG others(24): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0224 | 1 | 207 | 0.0048 | 31 | c.735 others(46): Show |
COPE | ENSG00000105669.14 | transcript | ENST00000262812.9 | protein_coding | 7/9 | chr19 | TogoVar | |||||||
COPE_chr19_18894514_18924387 | 18902825 | G | GAAAGAAA others(24): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02895.hp2 HG04204.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0118 a0001c0001t0001g0119 a0002c0003t0001g0136 others(1): Show |
4 | 149 | 0.0268 | 31 | c.735 others(46): Show |
COPE | ENSG00000105669.14 | transcript | ENST00000262812.9 | protein_coding | 7/9 | chr19 | TogoVar | |||||||
COQ8A_chr1_226935294_226992544 | 226978648 | T | TACCCTCC others(24): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0170 | 1 | 408 | 0.0025 | 31 | c.730 others(48): Show |
COQ8A | ENSG00000163050.18 | transcript | ENST00000366777.4 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CORIN_chr4_47589001_47843067 | 47632757 | A | AGATAGAT others(24): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0081 | 1 | 205 | 0.0049 | 31 | c.219 others(50): Show |
CORIN | ENSG00000145244.12 | transcript | ENST00000273857.9 | protein_coding | 16/21 | chr4 | TogoVar | |||||||
CORO1B_chr11_67430510_67448476 | 67439841 | A | AACCTGGG others(24): Show |
frameshift_variant others(1): Show |
HIGH | HG02647.hp2 | a0006 | a0006c0009 | a0006c0009t0004 | a0006c0009t0004g0034 | 1 | 352 | 0.0028 | 31 | c.100 others(43): Show |
p.Phe others(5): Show |
CORO1B | ENSG00000172725.14 | transcript | ENST00000341356.10 | protein_coding | 9/11 | 1084/4411 | 1009/1470 | 337/489 | chr11 | TogoVar | |||
COX7A2L_chr2_42344338_42366217 | 42364250 | C | CAAAAAAA others(24): Show |
upstream_gene_variant | MODIFIER | HG01123.hp1 NA19058.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 2 | 177 | 0.0113 | 31 | c.-30 others(42): Show |
COX7A2L | ENSG00000115944.15 | transcript | ENST00000234301.3 | protein_coding | 3034 | chr2 | TogoVar | |||||||
CPA1_chr7_130375494_130393108 | 130389791 | A | AAACATAT others(24): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0037 | 1 | 432 | 0.0023 | 31 | c.*17 others(42): Show |
CPA1 | ENSG00000091704.10 | transcript | ENST00000011292.8 | protein_coding | 1684 | chr7 | TogoVar | |||||||
CPA6_chr8_67417038_67751360 | 67448639 | G | GAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 61 | 0.0164 | 31 | c.839 others(50): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 8/10 | chr8 | TogoVar | |||||||
CPA6_chr8_67417038_67751360 | 67662400 | T | TATACACA others(24): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00735.hp2 others(64): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 others(64): Show |
67 | 140 | 0.4786 | 31 | c.117 others(50): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
CPA6_chr8_67417038_67751360 | 67662400 | T | TATACACA others(24): Show |
intron_variant | MODIFIER | NA18952.hp2 NA18981.hp2 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0118 a0004c0005t0001g0117 |
2 | 75 | 0.0267 | 31 | c.117 others(50): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
CPD_chr17_30373927_30474989 | 30423448 | T | TGAGTCCA others(24): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0262 | 1 | 294 | 0.0034 | 31 | c.165 others(46): Show |
CPD | ENSG00000108582.12 | transcript | ENST00000225719.9 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CPEB3_chr10_92041692_92296078 | 92095601 | T | TATATATA others(24): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0011 | a0001c0001t0006g0220 a0001c0001t0011g0219 |
2 | 185 | 0.0108 | 31 | c.157 others(50): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 7/9 | chr10 | TogoVar | |||||||
CPE_chr4_165374008_165503547 | 165461186 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG03098.hp2 HG06807.hp2 NA18948.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0167 others(4): Show |
7 | 155 | 0.0452 | 31 | c.308 others(48): Show |
CPE | ENSG00000109472.14 | transcript | ENST00000402744.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CPLX2_chr5_175866578_175889021 | 175871458 | A | AGAGAGAG others(24): Show |
upstream_gene_variant | MODIFIER | NA19012.hp2 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0030 a0001c0001t0010g0002 |
2 | 213 | 0.0094 | 31 | c.-33 others(40): Show |
CPLX2 | ENSG00000145920.15 | transcript | ENST00000393745.8 | protein_coding | 119 | chr5 | TogoVar | |||||||
CPLX2_chr5_175866578_175889021 | 175871464 | A | AGAGAGAG others(24): Show |
upstream_gene_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 332 | 0.0030 | 31 | c.-33 others(40): Show |
CPLX2 | ENSG00000145920.15 | transcript | ENST00000393745.8 | protein_coding | 113 | chr5 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89587278 | T | TCCCCGCC others(24): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0113 | 1 | 330 | 0.0030 | 31 | c.927 others(46): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPSF4_chr7_99433943_99462373 | 99440674 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061 a0001c0001t0002g0076 |
2 | 162 | 0.0123 | 31 | c.103 others(48): Show |
CPSF4 | ENSG00000160917.15 | transcript | ENST00000292476.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPTP_chr1_1319802_1333896 | 1324761 | G | GGGCGAGG others(24): Show |
upstream_gene_variant | MODIFIER | HG01516.hp1 HG01517.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0007 | 2 | 376 | 0.0053 | 31 | c.-41 others(40): Show |
CPTP | ENSG00000224051.7 | transcript | ENST00000343938.9 | protein_coding | 40 | chr1 | TogoVar | |||||||
CPVL_chr7_28990235_29151537 | 28997770 | T | TCACCTCT others(24): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00673.hp2 others(30): Show |
a0001a0003 | a0001c0001a0001c0012a0003c0010 | a0001c0001t0001a0001c0001t0003a0001c0012t0001others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0021 others(30): Show |
33 | 280 | 0.1179 | 31 | c.132 others(50): Show |
CPVL | ENSG00000106066.15 | transcript | ENST00000265394.10 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
CRACDL_chr2_98788846_98941225 | 98900247 | A | AGGAGGGG others(24): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0186 a0001c0001t0003g0187 |
2 | 314 | 0.0064 | 31 | c.-11 others(50): Show |
CRACDL | ENSG00000196872.12 | transcript | ENST00000397899.7 | protein_coding | 1/9 | chr2 | TogoVar | |||||||
CRB1_chr1_197263252_197483455 | 197319259 | T | TAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG02080.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 others(3): Show |
6 | 51 | 0.1176 | 31 | c.71- others(46): Show |
CRB1 | ENSG00000134376.17 | transcript | ENST00000367400.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CREB3L3_chr19_4148631_4178054 | 4163351 | A | AGAAAGAA others(24): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0142 | 1 | 242 | 0.0041 | 31 | c.577 others(48): Show |
CREB3L3 | ENSG00000060566.14 | transcript | ENST00000078445.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CREBBP_chr16_3720054_3885713 | 3759588 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0011 | a0001c0011t0006 | a0001c0011t0006g0226 | 1 | 212 | 0.0047 | 31 | c.325 others(48): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 16/30 | chr16 | TogoVar | |||||||
CREBBP_chr16_3720054_3885713 | 3849444 | T | TGTGTGTG others(24): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 276 | 0.0036 | 31 | c.798 others(46): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | |||||||
CREBRF_chr5_173051352_173144284 | 173122674 | T | TGCCATGC others(24): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0018 | 1 | 290 | 0.0034 | 31 | c.168 others(48): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CREBRF_chr5_173051352_173144284 | 173132444 | T | TCCCCTCC others(24): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 288 | 0.0035 | 31 | c.180 others(50): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CRELD2_chr22_49913634_49932537 | 49922765 | A | ATGGGGGC others(24): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0145 | 1 | 322 | 0.0031 | 31 | c.688 others(44): Show |
CRELD2 | ENSG00000184164.15 | transcript | ENST00000328268.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CRKL_chr22_20912407_20958747 | 20927192 | A | ATTTTTTT others(24): Show |
intron_variant | MODIFIER | HG01884.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0022 a0001c0001t0010g0023 |
2 | 53 | 0.0377 | 31 | c.312 others(48): Show |
CRKL | ENSG00000099942.13 | transcript | ENST00000354336.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CRLF2_chrX_1185490_1217649 | 1191361 | C | CTTTCTTT others(24): Show |
intron_variant | MODIFIER | HG02523.hp2 HG02683.hp2 HG03491.hp1 others(1): Show |
a0001a0002a0005 | a0001c0001a0002c0006a0005c0024 | a0001c0001t0001a0002c0006t0002a0005c0024t0004 | a0001c0001t0001g0119 a0001c0001t0001g0121 a0002c0006t0002g0116 others(1): Show |
4 | 113 | 0.0354 | 31 | c.853 others(46): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 7/7 | chrX | TogoVar | |||||||
CRLF2_chrX_1185490_1217649 | 1213055 | T | TCCCCCTC others(24): Show |
upstream_gene_variant | MODIFIER | HG01975.hp2 HG02056.hp2 HG02897.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(3): Show | a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0002g0070 others(4): Show |
7 | 142 | 0.0493 | 31 | c.-42 others(40): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 407 | chrX | TogoVar | |||||||
CRLF2_chrX_1185490_1217649 | 1213055 | T | TCCCCCTC others(24): Show |
upstream_gene_variant | MODIFIER | HG01261.hp1 HG01515.hp2 HG02572.hp1 others(10): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0002others(6): Show | a0001c0001t0001g0024 a0001c0001t0006g0020 a0001c0002t0002g0007 others(10): Show |
13 | 148 | 0.0878 | 31 | c.-42 others(40): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 407 | chrX | TogoVar | |||||||
CRLS1_chr20_6001123_6045053 | 6011572 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0023 | a0001c0001t0001g0036 a0001c0001t0005g0036 a0001c0001t0023g0228 |
3 | 32 | 0.0938 | 31 | c.444 others(48): Show |
CRLS1 | ENSG00000088766.12 | transcript | ENST00000378863.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16389928 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0011 | 1 | 112 | 0.0089 | 31 | c.535 others(50): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | |||||||
CRPPA_chr7_16082525_16426538 | 16389928 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0030 | 1 | 112 | 0.0089 | 31 | c.535 others(50): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | |||||||
CRPPA_chr7_16082525_16426538 | 16389928 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0002 | a0002c0002 | a0002c0002t0040 | a0002c0002t0040g0246 | 1 | 112 | 0.0089 | 31 | c.535 others(50): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | |||||||
CRYBA4_chr22_26616963_26635669 | 26627359 | C | CCCTCCCT others(24): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 303 | 0.0033 | 31 | c.301 others(46): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25218779 | G | GAGAGAGA others(24): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 167 | 0.0060 | 31 | c.-91 others(40): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 859 | chr22 | TogoVar | |||||||
CRYBG1_chr6_106355717_106577017 | 106361970 | T | TTTCTTTC others(24): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02717.hp1 HG02818.hp1 others(3): Show |
a0001a0007a0022others(3): Show | a0001c0022a0007c0007a0022c0037others(3): Show | a0001c0022t0002a0007c0007t0003a0022c0037t0001others(3): Show | a0001c0022t0002g0228 a0007c0007t0003g0214 a0022c0037t0001g0250 others(3): Show |
6 | 229 | 0.0262 | 31 | c.173 others(46): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |