| 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 | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BAG1_chr9_33247471_33269708 | 33252079 | GGGAGAAG others(62): Show |
G | downstream_gene_variant | MODIFIER | HG00733.hp1 HG02145.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0091a0001c0001t0017g0106 | 2 | 348 | 0.0058 | -69 | c.*30 others(80): Show |
BAG1 | ENSG00000107262.26 | transcript | ENST00000634734.3 | protein_coding | 391 | chr9 | TogoVar | ||||||
| BARD1_chr2_214720646_214814683 | 214810043 | TGGCGCGC others(62): Show |
T | upstream_gene_variant | MODIFIER | HG02258.hp1 HG03195.hp2 NA18522.hp2 |
a0001a0009 | a0001c0003a0009c0011 | a0001c0003t0002a0009c0011t0032a0009c0011t0047 | a0001c0003t0002g0114a0009c0011t0032g0115a0009c0011t0047g0116 | 3 | 362 | 0.0083 | -69 | c.-54 others(78): Show |
BARD1 | ENSG00000138376.11 | transcript | ENST00000260947.9 | protein_coding | 361 | chr2 | TogoVar | ||||||
| BATF_chr14_75517469_75551992 | 75549100 | CTCAGCTT others(62): Show |
C | downstream_gene_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 376 | 0.0027 | -69 | c.*24 others(80): Show |
BATF | ENSG00000156127.8 | transcript | ENST00000286639.8 | protein_coding | 2109 | chr14 | TogoVar | ||||||
| BAZ2B_chr2_159313979_159621548 | 159325041 | TATTATAT others(62): Show |
T | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0144 | 1 | 216 | 0.0046 | -69 | c.621 others(85): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 35/36 | chr2 | TogoVar | ||||||
| BBS4_chr15_72681207_72743473 | 72725810 | TTCCCCCA others(62): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG03942.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0240a0002c0002t0001g0241a0002c0002t0001g0253 | 3 | 398 | 0.0075 | -69 | c.587 others(86): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| BBS5_chr2_169474494_169511655 | 169481128 | CGTTCTAG others(62): Show |
C | intron_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 | 1 | 398 | 0.0025 | -69 | c.60- others(84): Show |
BBS5 | ENSG00000163093.12 | transcript | ENST00000295240.8 | protein_coding | 1/11 | chr2 | TogoVar | ||||||
| BCL11A_chr2_60452194_60558654 | 60467263 | GGTGATGG others(62): Show |
G | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0069 | 1 | 262 | 0.0038 | -69 | c.487 others(86): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
| BCL9_chr1_147536501_147631216 | 147541070 | TGAGAGAG others(62): Show |
T | upstream_gene_variant | MODIFIER | HG01256.hp2 HG01952.hp1 HG02135.hp2 others(3): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0002a0001c0001t0003a0001c0010t0003 | a0001c0001t0002g0021a0001c0001t0002g0256a0001c0001t0002g0263others(3): Show | 6 | 316 | 0.0190 | -69 | c.-10 others(80): Show |
BCL9 | ENSG00000116128.12 | transcript | ENST00000234739.8 | protein_coding | 430 | chr1 | TogoVar | ||||||
| BCL9_chr1_147536501_147631216 | 147541118 | AGGAGAGA others(62): Show |
A | upstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0160 | 1 | 316 | 0.0032 | -69 | c.-10 others(79): Show |
BCL9 | ENSG00000116128.12 | transcript | ENST00000234739.8 | protein_coding | 382 | chr1 | TogoVar | ||||||
| BDH1_chr3_197504783_197560968 | 197510615 | TGTGTGTG others(62): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00544.hp1 HG00738.hp1 HG01433.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0020a0001c0001t0105others(1): Show | a0001c0001t0002g0073a0001c0001t0002g0122a0001c0001t0002g0163others(7): Show | 10 | 319 | 0.0314 | -69 | c.*12 others(80): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 8/8 | 1211 | chr3 | TogoVar | |||||
| BNC2_chr9_16404503_16875670 | 16539631 | GAGCGAGG others(62): Show |
G | intron_variant | MODIFIER | HG02280.hp2 HG02647.hp1 HG02717.hp1 others(5): Show |
a0001a0012 | a0001c0001a0001c0016a0012c0014 | a0001c0001t0003a0001c0001t0009a0001c0001t0089others(2): Show | a0001c0001t0003g0016a0001c0001t0003g0063a0001c0001t0009g0036others(5): Show | 8 | 176 | 0.0455 | -69 | c.669 others(88): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 5/6 | chr9 | TogoVar | ||||||
| BRD2_chr6_32963594_32986501 | 32973885 | GGTTCTTC others(62): Show |
G | intron_variant | MODIFIER | NA19059.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0087 | 1 | 469 | 0.0021 | -69 | c.30- others(82): Show |
BRD2 | ENSG00000204256.14 | transcript | ENST00000374825.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| C1QTNF3_chr5_34012858_34048213 | 34045056 | CCTCAGGG others(62): Show |
C | upstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0158 | 1 | 414 | 0.0024 | -69 | c.-20 others(80): Show |
C1QTNF3 | ENSG00000082196.21 | transcript | ENST00000382065.8 | protein_coding | 1844 | chr5 | TogoVar | ||||||
| C3_chr19_6672704_6725650 | 6706843 | CAGACAGG others(62): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG02818.hp1 HG02922.hp2 others(3): Show |
a0001a0012 | a0001c0010a0001c0012a0001c0052others(2): Show | a0001c0010t0001a0001c0012t0001a0001c0052t0001others(2): Show | a0001c0010t0001g0227a0001c0012t0001g0025a0001c0012t0001g0149others(3): Show | 6 | 370 | 0.0162 | -69 | c.224 others(86): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 17/40 | chr19 | TogoVar | ||||||
| C5orf34_chr5_43481709_43520148 | 43516378 | ACCGGAAA others(62): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(154): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(78): Show | 157 | 340 | 0.4618 | -69 | c.-16 others(80): Show |
C5orf34 | ENSG00000172244.9 | transcript | ENST00000306862.7 | protein_coding | 1231 | chr5 | TogoVar | ||||||
| CAB39L_chr13_49303650_49449064 | 49318556 | GGGAAAGG others(62): Show |
G | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0216 | 1 | 324 | 0.0031 | -69 | c.835 others(86): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 10/10 | chr13 | TogoVar | ||||||
| CAMK1D_chr10_12344547_12840545 | 12691363 | ATATATAT others(62): Show |
A | intron_variant | MODIFIER | HG01256.hp1 HG01256.hp2 HG01258.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0034a0001c0001t0080 | a0001c0001t0014g0211a0001c0001t0014g0212a0001c0001t0034g0202others(1): Show | 4 | 214 | 0.0187 | -69 | c.299 others(88): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CAMK1D_chr10_12344547_12840545 | 12691365 | ATATATAT others(62): Show |
A | intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0063 | 1 | 214 | 0.0047 | -69 | c.299 others(88): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CAMK2A_chr5_150214491_150294773 | 150261102 | AAATGGAC others(62): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG01081.hp1 others(56): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0058a0001c0001t0001g0066a0001c0001t0001g0078others(54): Show | 59 | 338 | 0.1746 | -69 | c.218 others(86): Show |
CAMK2A | ENSG00000070808.17 | transcript | ENST00000671881.1 | protein_coding | 3/18 | chr5 | TogoVar | ||||||
| CAMK2B_chr7_44212154_44330594 | 44227417 | GGGGTGTG others(62): Show |
G | intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0196 | 1 | 242 | 0.0041 | -69 | c.146 others(86): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 19/23 | chr7 | TogoVar | ||||||
| CARD10_chr22_37485362_37524415 | 37508887 | GAGTATCT others(62): Show |
G | intron_variant | MODIFIER | HG03239.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0224 | 1 | 276 | 0.0036 | -69 | c.910 others(84): Show |
CARD10 | ENSG00000100065.15 | transcript | ENST00000251973.10 | protein_coding | 4/19 | chr22 | TogoVar | ||||||
| CCDC110_chr4_185440182_185476733 | 185471152 | GGGGCGGG others(62): Show |
G | intron_variant | MODIFIER | HG01978.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080a0001c0001t0001g0081 | 2 | 428 | 0.0047 | -69 | c.11- others(82): Show |
CCDC110 | ENSG00000168491.10 | transcript | ENST00000307588.8 | protein_coding | 1/6 | chr4 | TogoVar | ||||||
| CCDC183_chr9_136791338_136812741 | 136802873 | GCTGGGGG others(62): Show |
G | intron_variant | MODIFIER | NA19065.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0163 | 1 | 398 | 0.0025 | -69 | c.666 others(83): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CCDC6_chr10_59783747_59911556 | 59904555 | TCTTCTTA others(62): Show |
T | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0283 | 1 | 288 | 0.0035 | -69 | c.303 others(86): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
| CD101_chr1_116996760_117041552 | 117029188 | AAAGAAAG others(62): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 426 | 0.0024 | -69 | c.282 others(88): Show |
CD101 | ENSG00000134256.13 | transcript | ENST00000682167.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CD163L1_chr12_7349960_7449153 | 7437205 | TTTTTTAT others(62): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 |
a0004a0008 | a0004c0028a0008c0011 | a0004c0028t0001a0008c0011t0001 | a0004c0028t0001g0121a0008c0011t0001g0122 | 2 | 384 | 0.0052 | -69 | c.125 others(86): Show |
CD163L1 | ENSG00000177675.9 | transcript | ENST00000313599.8 | protein_coding | 2/19 | chr12 | TogoVar | ||||||
| CD209_chr19_7734993_7752534 | 7745812 | AGGTCAGC others(62): Show |
A | conservative_inframe_deletion | MODERATE | HG01934.hp2 HG03471.hp1 NA18522.hp1 |
a0005 | a0005c0005 | a0005c0005t0018 | a0005c0005t0018g0023 | 3 | 454 | 0.0066 | -69 | c.385 others(76): Show |
p.Arg others(13): Show |
CD209 | ENSG00000090659.18 | transcript | ENST00000315599.12 | protein_coding | 4/7 | 476/4284 | 385/1215 | 129/404 | chr19 | TogoVar | ||
| CDHR5_chr11_611583_629955 | 611687 | GAAGGCGT others(62): Show |
G | downstream_gene_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 409 | 0.0024 | -69 | c.*55 others(80): Show |
CDHR5 | ENSG00000099834.19 | transcript | ENST00000397542.7 | protein_coding | 4895 | chr11 | TogoVar | ||||||
| CEP43_chr6_166994397_167057718 | 167004613 | TTTGATCC others(62): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00438.hp1 others(181): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(111): Show | a0001c0001t0001g0005a0001c0001t0001g0012a0001c0001t0001g0014others(164): Show | 184 | 376 | 0.4894 | -69 | c.438 others(84): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CEP76_chr18_12667625_12707723 | 12669054 | TTTTTGAG others(62): Show |
T | downstream_gene_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 380 | 0.0026 | -69 | c.*42 others(80): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 3570 | chr18 | TogoVar | ||||||
| CFAP74_chr1_1916957_2008786 | 1968924 | GCCCTCCT others(62): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(66): Show |
a0003a0010a0011others(21): Show | a0003c0003a0003c0013a0003c0015others(28): Show | a0003c0003t0001a0003c0003t0003a0003c0013t0001others(31): Show | a0003c0003t0001g0088a0003c0003t0001g0091a0003c0003t0001g0092others(66): Show | 69 | 278 | 0.2482 | -69 | c.104 others(85): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 10/38 | chr1 | TogoVar | ||||||
| CHRNB4_chr15_78619111_78646210 | 78632170 | TCTCTTTC others(62): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG02922.hp2 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0047a0001c0005t0001g0060a0001c0005t0001g0113others(3): Show | 7 | 416 | 0.0168 | -69 | c.205 others(84): Show |
CHRNB4 | ENSG00000117971.12 | transcript | ENST00000261751.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
| CHST12_chr7_2398611_2453484 | 2452462 | GGCCCTGG others(62): Show |
G | downstream_gene_variant | MODIFIER | NA20300.hp2 | a0004 | a0004c0004 | a0004c0004t0023 | a0004c0004t0023g0081 | 1 | 344 | 0.0029 | -69 | c.*18 others(82): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 3979 | chr7 | TogoVar | ||||||
| CLEC10A_chr17_7069537_7085251 | 7077353 | CCGACCAC others(62): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01081.hp1 HG01123.hp1 others(22): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0022 | a0001c0002t0004g0006a0001c0002t0004g0021a0001c0002t0004g0034others(3): Show | 25 | 458 | 0.0546 | -69 | c.185 others(84): Show |
CLEC10A | ENSG00000132514.14 | transcript | ENST00000416562.7 | protein_coding | 3/8 | chr17 | TogoVar | ||||||
| CLEC4M_chr19_7758243_7774605 | 7765776 | AGCTGAAG others(62): Show |
A | disruptive_inframe_deletion | MODERATE | HG00280.hp1 HG00438.hp1 HG00597.hp2 others(49): Show |
a0003a0005 | a0003c0004a0003c0005a0005c0006 | a0003c0004t0001a0003c0004t0003a0003c0004t0005others(6): Show | a0003c0004t0001g0044a0003c0004t0003g0012a0003c0004t0003g0048others(13): Show | 52 | 460 | 0.1130 | -69 | c.558 others(76): Show |
p.Arg others(13): Show |
CLEC4M | ENSG00000104938.18 | transcript | ENST00000327325.10 | protein_coding | 4/7 | 582/1841 | 558/1200 | 186/399 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
| CLN8_chr8_1758789_1791570 | 1763575 | CCCCCCGC others(62): Show |
C | upstream_gene_variant | MODIFIER | HG02129.hp2 HG03225.hp2 NA19054.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0108a0001c0001t0003g0002a0001c0001t0003g0014 | 3 | 413 | 0.0073 | -69 | c.-43 others(78): Show |
CLN8 | ENSG00000182372.10 | transcript | ENST00000331222.6 | protein_coding | 213 | chr8 | TogoVar | ||||||
| CNBD1_chr8_86861415_87387859 | 87359218 | CAAACATT others(62): Show |
C | intron_variant | MODIFIER | HG02622.hp2 HG02809.hp1 HG03486.hp2 others(2): Show |
a0001a0004a0005others(1): Show | a0001c0001a0004c0003a0005c0007others(1): Show | a0001c0001t0002a0004c0003t0002a0005c0007t0002others(1): Show | a0001c0001t0002g0003a0001c0001t0002g0069a0004c0003t0002g0007others(2): Show | 5 | 152 | 0.0329 | -69 | c.130 others(88): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 10/10 | chr8 | TogoVar | ||||||
| COL18A1_chr21_45400165_45518720 | 45486209 | GTGGTCCC others(62): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02630.hp2 HG03130.hp1 others(1): Show |
a0001a0008 | a0001c0069a0008c0018 | a0001c0069t0005a0008c0018t0005 | a0001c0069t0005g0038a0008c0018t0005g0067a0008c0018t0005g0130others(1): Show | 4 | 292 | 0.0137 | -69 | c.170 others(86): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 15/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| COL18A1_chr21_45400165_45518720 | 45486258 | TGCCTGCC others(62): Show |
T | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0087 | a0001c0087t0001 | a0001c0087t0001g0055 | 1 | 292 | 0.0034 | -69 | c.170 others(86): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 15/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| COL18A1_chr21_45400165_45518720 | 45486389 | CTCCCCTC others(62): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG02922.hp1 NA19060.hp1 |
a0001a0004 | a0001c0004a0001c0011a0004c0099 | a0001c0004t0001a0001c0011t0001a0004c0099t0003 | a0001c0004t0001g0032a0001c0011t0001g0050a0004c0099t0003g0030 | 3 | 292 | 0.0103 | -69 | c.170 others(86): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 15/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| COL18A1_chr21_45400165_45518720 | 45492248 | CCACCTCC others(62): Show |
C | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0193 | 1 | 292 | 0.0034 | -69 | c.215 others(86): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 22/41 | chr21 | TogoVar | ||||||
| COL18A1_chr21_45400165_45518720 | 45510951 | AACACCCC others(62): Show |
A | intron_variant | MODIFIER | NA18975.hp1 | a0003 | a0003c0015 | a0003c0015t0001 | a0003c0015t0001g0168 | 1 | 292 | 0.0034 | -69 | c.369 others(85): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 40/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| COL5A3_chr19_9954561_10015504 | 9970092 | TGGCTGAG others(62): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(19): Show |
a0004a0025a0045others(3): Show | a0004c0010a0004c0013a0004c0108others(5): Show | a0004c0010t0001a0004c0010t0004a0004c0010t0023others(9): Show | a0004c0010t0001g0267a0004c0010t0004g0033a0004c0010t0004g0157others(19): Show | 22 | 412 | 0.0534 | -69 | c.393 others(86): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 54/66 | chr19 | TogoVar | ||||||
| COL6A1_chr21_45976770_46010048 | 45988295 | GGGGACGG others(62): Show |
G | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0125 | 1 | 128 | 0.0078 | -69 | c.804 others(84): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| CPLX1_chr4_779957_831129 | 782051 | ACGGATCT others(62): Show |
A | downstream_gene_variant | MODIFIER | HG03239.hp2 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0288a0001c0001t0002g0309 | 2 | 416 | 0.0048 | -69 | c.*43 others(80): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 2905 | chr4 | TogoVar | ||||||
| CPSF2_chr14_92116969_92177145 | 92173357 | ACGTATAT others(62): Show |
A | downstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0151 | 1 | 388 | 0.0026 | -69 | c.*11 others(82): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 1213 | chr14 | TogoVar | ||||||
| CPZ_chr4_8587765_8624752 | 8614227 | CGACGTCC others(62): Show |
C | intron_variant | MODIFIER | HG02723.hp2 | a0021 | a0021c0056 | a0021c0056t0004 | a0021c0056t0004g0207 | 1 | 442 | 0.0023 | -69 | c.136 others(85): Show |
CPZ | ENSG00000109625.19 | transcript | ENST00000360986.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CRADD_chr12_93672375_93855756 | 93851284 | AGGGTGAA others(62): Show |
A | downstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0032 | 1 | 248 | 0.0040 | -69 | c.*10 others(80): Show |
CRADD | ENSG00000169372.13 | transcript | ENST00000332896.8 | protein_coding | 529 | chr12 | TogoVar | ||||||
| CSGALNACT1_chr8_19399161_19762277 | 19479762 | GAAAAAAA others(62): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(158): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(43): Show | a0001c0001t0001g0004a0001c0001t0001g0012a0001c0001t0001g0013others(158): Show | 161 | 238 | 0.6765 | -69 | c.635 others(88): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3795393 | GATATCTA others(62): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG03139.hp2 |
a0001a0029 | a0001c0033a0029c0028 | a0001c0033t0003a0029c0028t0024 | a0001c0033t0003g0059a0029c0028t0024g0040 | 2 | 126 | 0.0159 | -69 | c.819 others(88): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar |