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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL18A1_chr21_45400165_45518720 | 45442778 | CGGTCCTG others(32): Show |
C | intron_variant | MODIFIER | HG01258.hp2 HG01346.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0089 a0001c0004t0001g0278 |
2 | 290 | 0.0069 | -39 | c.107 others(58): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45497073 | CGGGCCTC others(32): Show |
C | splice_donor_variant others(3): Show |
HIGH | HG02257.hp1 | a0019 | a0019c0067 | a0019c0067t0001 | a0019c0067t0001g0012 | 1 | 290 | 0.0034 | -39 | c.260 others(51): Show |
p.Pro others(13): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 31/42 | 2669/5408 | 2603/4020 | 868/1339 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||
COL18A1_chr21_45400165_45518720 | 45508387 | AGATGGAT others(32): Show |
A | intron_variant | MODIFIER | NA18612.hp1 | a0004 | a0004c0030 | a0004c0030t0002 | a0004c0030t0002g0148 | 1 | 290 | 0.0034 | -39 | c.324 others(56): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 38/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178547597 | ACCCACAC others(32): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(119): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0002c0002others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0002 a0001c0001t0001g0091 a0001c0001t0001g0199 others(119): Show |
122 | 236 | 0.5169 | -39 | c.361 others(58): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110252501 | ATATATGT others(32): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG01255.hp1 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0007a0001c0016a0001c0020others(4): Show | a0001c0007t0001a0001c0016t0003a0001c0020t0001others(4): Show | a0001c0007t0001g0048 a0001c0016t0003g0002 a0001c0016t0003g0109 others(7): Show |
11 | 252 | 0.0437 | -39 | c.85- others(54): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A4_chr2_226997714_227169205 | 227041703 | AGAAGGAA others(32): Show |
A | intron_variant | MODIFIER | HG03209.hp2 HG03453.hp1 |
a0002 | a0002c0019 | a0002c0019t0005 | a0002c0019t0005g0029 a0002c0019t0005g0167 |
2 | 282 | 0.0071 | -39 | c.350 others(56): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 37/47 | chr2 | TogoVar | |||||||
COL4A4_chr2_226997714_227169205 | 227041848 | GAGAAAGA others(32): Show |
G | intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 148 | 0.0068 | -39 | c.350 others(56): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 37/47 | chr2 | TogoVar | |||||||
COL4A6_chrX_108150614_108443422 | 108440061 | CAATTGGT others(32): Show |
C | upstream_gene_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 232 | 0.0043 | -39 | c.-19 others(50): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 1640 | chrX | TogoVar | |||||||
COL6A3_chr2_237319018_237419164 | 237343514 | CAAAAAAA others(32): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02622.hp2 HG02886.hp1 others(2): Show |
a0002a0003a0025 | a0002c0001a0003c0028a0003c0080others(1): Show | a0002c0001t0001a0003c0028t0003a0003c0080t0004others(1): Show | a0002c0001t0001g0273 a0003c0028t0003g0181 a0003c0028t0003g0182 others(2): Show |
5 | 45 | 0.1111 | -39 | c.766 others(56): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 36/43 | chr2 | TogoVar | |||||||
COL6A3_chr2_237319018_237419164 | 237343538 | AAAAAAAA others(32): Show |
A | intron_variant | MODIFIER | HG02293.hp1 HG02572.hp2 HG03098.hp2 others(4): Show |
a0003a0016a0027 | a0003c0005a0003c0027a0003c0033others(2): Show | a0003c0005t0001a0003c0005t0002a0003c0027t0001others(4): Show | a0003c0005t0001g0317 a0003c0005t0002g0023 a0003c0027t0001g0147 others(4): Show |
7 | 320 | 0.0219 | -39 | c.766 others(56): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 36/43 | chr2 | TogoVar | |||||||
COMTD1_chr10_75228641_75240957 | 75237537 | TAGGGGAC others(32): Show |
T | upstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 408 | 0.0025 | -39 | c.-16 others(50): Show |
COMTD1 | ENSG00000165644.11 | transcript | ENST00000372538.8 | protein_coding | 1581 | chr10 | TogoVar | |||||||
CORO1C_chr12_108640109_108736518 | 108655804 | TGTCTGGG others(32): Show |
T | intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 324 | 0.0031 | -39 | c.751 others(56): Show |
CORO1C | ENSG00000110880.11 | transcript | ENST00000261401.8 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
CORT_chr1_10445031_10456998 | 10445270 | TGCATGCC others(32): Show |
T | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG01884.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0012 |
24 | 426 | 0.0563 | -39 | c.-49 others(50): Show |
CORT | ENSG00000241563.4 | transcript | ENST00000377049.4 | protein_coding | 4760 | chr1 | TogoVar | |||||||
COX18_chr4_73047362_73074716 | 73073964 | CATGGTCT others(32): Show |
C | upstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0154 | 1 | 382 | 0.0026 | -39 | c.-43 others(50): Show |
COX18 | ENSG00000163626.17 | transcript | ENST00000507544.3 | protein_coding | 4249 | chr4 | TogoVar | |||||||
CPEB1_chr15_82538201_82652363 | 82647565 | AGGCCGCC others(32): Show |
A | upstream_gene_variant | MODIFIER | HG02258.hp2 | a0002 | a0002c0002 | a0002c0002t0022 | a0002c0002t0022g0037 | 1 | 352 | 0.0028 | -39 | c.-56 others(48): Show |
CPEB1 | ENSG00000214575.10 | transcript | ENST00000684509.1 | protein_coding | 203 | chr15 | TogoVar | |||||||
CPED1_chr7_120983711_121302442 | 121047646 | TTTCTTCT others(32): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02723.hp2 HG02970.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0005 | a0001c0001t0001g0047 a0001c0001t0003g0010 a0002c0002t0005g0005 others(1): Show |
4 | 23 | 0.1739 | -39 | c.540 others(54): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPLX1_chr4_779957_831129 | 789919 | CACCCCAA others(32): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp2 HG02486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0080 a0001c0001t0004g0183 a0001c0001t0004g0184 others(1): Show |
4 | 414 | 0.0097 | -39 | c.207 others(56): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 3/3 | chr4 | TogoVar | |||||||
CPLX1_chr4_779957_831129 | 789987 | AGGGTTCC others(32): Show |
A | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0109 | 1 | 414 | 0.0024 | -39 | c.207 others(56): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 3/3 | chr4 | TogoVar | |||||||
CPLX1_chr4_779957_831129 | 793280 | CTGGCAGG others(32): Show |
C | intron_variant | MODIFIER | HG02886.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0133 a0001c0001t0004g0134 |
2 | 414 | 0.0048 | -39 | c.32- others(52): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
CPNE5_chr6_36735775_36844444 | 36821112 | GCATGGAA others(32): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00438.hp2 others(70): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0079 others(70): Show |
73 | 378 | 0.1931 | -39 | c.183 others(55): Show |
CPNE5 | ENSG00000124772.12 | transcript | ENST00000244751.7 | protein_coding | 3/20 | chr6 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89588003 | CCCGTGTT others(32): Show |
C | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 346 | 0.0029 | -39 | c.928 others(54): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89590750 | CGGGGGAG others(32): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(48): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0009others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(8): Show | a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0059 others(48): Show |
51 | 341 | 0.1496 | -39 | c.111 others(56): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPO_chr2_206934518_206974474 | 206943702 | AGATAGAT others(32): Show |
A | intron_variant | MODIFIER | NA18985.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0308 | 1 | 316 | 0.0032 | -39 | c.68+ others(54): Show |
CPO | ENSG00000144410.5 | transcript | ENST00000272852.4 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
CPPED1_chr16_12654799_12808887 | 12716910 | GAAGCACT others(32): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01261.hp2 HG02280.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0164 a0001c0001t0004g0288 a0001c0001t0005g0247 others(2): Show |
5 | 288 | 0.0174 | -39 | c.290 others(58): Show |
CPPED1 | ENSG00000103381.12 | transcript | ENST00000381774.9 | protein_coding | 2/3 | chr16 | TogoVar | |||||||
CPSF1_chr8_144388231_144414335 | 144397067 | GAGGGAGA others(32): Show |
G | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 | 1 | 348 | 0.0029 | -39 | c.259 others(56): Show |
CPSF1 | ENSG00000071894.17 | transcript | ENST00000616140.2 | protein_coding | 23/37 | chr8 | TogoVar | |||||||
CRAMP1_chr16_1607360_1682908 | 1661321 | AGGTCCTG others(32): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG01978.hp2 HG02723.hp1 |
a0001 | a0001c0003a0001c0004a0001c0005 | a0001c0003t0001a0001c0004t0001a0001c0005t0005 | a0001c0003t0001g0108 a0001c0004t0001g0158 a0001c0005t0005g0270 |
3 | 257 | 0.0117 | -39 | c.241 others(56): Show |
CRAMP1 | ENSG00000007545.16 | transcript | ENST00000397412.8 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CRB1_chr1_197263252_197483455 | 197453865 | ATATTATT others(32): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG02165.hp1 HG02257.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0001 | a0001c0001t0001g0013 a0001c0001t0001g0033 a0001c0001t0001g0041 others(1): Show |
4 | 184 | 0.0217 | -39 | c.400 others(60): Show |
CRB1 | ENSG00000134376.17 | transcript | ENST00000367400.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CREB3L2_chr7_137869979_138007086 | 137946755 | ATCTATAT others(32): Show |
A | intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100 | 1 | 286 | 0.0035 | -39 | c.103 others(58): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 1/11 | chr7 | TogoVar | |||||||
CRISP2_chr6_49687359_49718543 | 49701935 | TAATATAT others(32): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(379): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(181): Show |
382 | 408 | 0.9363 | -39 | c.67- others(54): Show |
CRISP2 | ENSG00000124490.14 | transcript | ENST00000339139.5 | protein_coding | 4/9 | chr6 | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240985115 | ACCCAGGC others(32): Show |
A | intron_variant | MODIFIER | HG01256.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0263 | 1 | 340 | 0.0029 | -39 | c.455 others(58): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 28/31 | chr2 | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240985243 | ACCCAGGC others(32): Show |
A | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 348 | 0.0029 | -39 | c.455 others(58): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 28/31 | chr2 | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240985268 | ACCCAGGC others(32): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00673.hp2 others(7): Show |
a0001a0005a0006others(3): Show | a0001c0001a0001c0022a0005c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0022t0002others(5): Show | a0001c0001t0001g0077 a0001c0001t0001g0176 a0001c0001t0002g0262 others(7): Show |
10 | 348 | 0.0287 | -39 | c.455 others(58): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 28/31 | chr2 | TogoVar | |||||||
CRYAB_chr11_111903564_111916770 | 111915119 | TTGGGAGT others(32): Show |
T | upstream_gene_variant | MODIFIER | NA18974.hp1 NA19059.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 2 | 396 | 0.0051 | -39 | c.-34 others(50): Show |
CRYAB | ENSG00000109846.9 | transcript | ENST00000650687.2 | protein_coding | 3350 | chr11 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19666999 | GAAAGAAA others(32): Show |
G | intron_variant | MODIFIER | HG02647.hp1 HG02735.hp2 HG04184.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0004a0002c0003t0003 | a0001c0002t0004g0153 a0002c0003t0003g0048 a0002c0003t0003g0099 |
3 | 234 | 0.0128 | -39 | c.-39 others(60): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19667003 | GAAAGAAA others(32): Show |
G | intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0003 | a0002c0003t0034 | a0002c0003t0034g0054 | 1 | 226 | 0.0044 | -39 | c.-39 others(60): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19667007 | GAAAGAAA others(32): Show |
G | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0036 | 1 | 228 | 0.0044 | -39 | c.-39 others(60): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 2973907 | GTGGTAGA others(32): Show |
G | intron_variant | MODIFIER | HG02622.hp2 NA18522.hp1 |
a0020a0035 | a0020c0112a0035c0023 | a0020c0112t0081a0035c0023t0001 | a0020c0112t0081g0090 a0035c0023t0001g0052 |
2 | 117 | 0.0171 | -39 | c.874 others(56): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 56/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3660480 | CTTTTTTT others(32): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG01081.hp2 HG01123.hp2 others(19): Show |
a0001a0002a0005others(5): Show | a0001c0002a0001c0003a0001c0005others(18): Show | a0001c0002t0002a0001c0003t0008a0001c0003t0011others(19): Show | a0001c0002t0002g0083 a0001c0003t0008g0053 a0001c0003t0011g0026 others(19): Show |
22 | 51 | 0.4314 | -39 | c.101 others(60): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 7/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3926036 | CACACACA others(32): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG01123.hp2 HG01255.hp2 others(4): Show |
a0001a0002a0009 | a0001c0001a0001c0003a0001c0049others(3): Show | a0001c0001t0002a0001c0003t0008a0001c0003t0011others(4): Show | a0001c0001t0002g0102 a0001c0003t0008g0053 a0001c0003t0011g0026 others(4): Show |
7 | 123 | 0.0569 | -39 | c.818 others(58): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4920907 | AAAAGAAA others(32): Show |
A | intron_variant | MODIFIER | HG03195.hp2 | a0029 | a0029c0027 | a0029c0027t0003 | a0029c0027t0003g0099 | 1 | 123 | 0.0081 | -39 | c.85+ others(56): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
CSNK1A1_chr5_149487982_149556439 | 149542656 | ATATATAT others(32): Show |
A | intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 383 | 0.0026 | -39 | c.230 others(56): Show |
CSNK1A1 | ENSG00000113712.19 | transcript | ENST00000377843.8 | protein_coding | 2/9 | chr5 | TogoVar | |||||||
CSNK1D_chr17_82237667_82278700 | 82259915 | GTGACTGA others(32): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG02572.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 a0001c0001t0002g0226 |
3 | 318 | 0.0094 | -39 | c.188 others(56): Show |
CSNK1D | ENSG00000141551.15 | transcript | ENST00000314028.11 | protein_coding | 2/8 | chr17 | TogoVar | |||||||
CSNK1D_chr17_82237667_82278700 | 82260263 | GTGACTGA others(32): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp2 HG02015.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0076 a0001c0001t0001g0077 others(2): Show |
6 | 318 | 0.0189 | -39 | c.188 others(56): Show |
CSNK1D | ENSG00000141551.15 | transcript | ENST00000314028.11 | protein_coding | 2/8 | chr17 | TogoVar | |||||||
CSNK1D_chr17_82237667_82278700 | 82260413 | GTGACTGA others(32): Show |
G | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0192 | 1 | 318 | 0.0031 | -39 | c.188 others(56): Show |
CSNK1D | ENSG00000141551.15 | transcript | ENST00000314028.11 | protein_coding | 2/8 | chr17 | TogoVar | |||||||
CSRNP3_chr2_165464698_165694407 | 165520770 | TTATATAT others(32): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00735.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(13): Show | a0001c0001t0003g0216 a0001c0001t0003g0218 a0001c0001t0003g0224 others(20): Show |
23 | 97 | 0.2371 | -39 | c.-24 others(56): Show |
CSRNP3 | ENSG00000178662.16 | transcript | ENST00000651982.1 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CST8_chr20_23486117_23501010 | 23490055 | AAATATAT others(32): Show |
A | upstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 436 | 0.0023 | -39 | c.-14 others(50): Show |
CST8 | ENSG00000125815.9 | transcript | ENST00000246012.2 | protein_coding | 1061 | chr20 | TogoVar | |||||||
CSTF2T_chr10_51690486_51704595 | 51701702 | AGTTGAAT others(32): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00597.hp2 others(80): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0003a0001c0002t0009others(6): Show | a0001c0001t0001g0000 a0001c0002t0003g0000 a0001c0002t0009g0000 others(6): Show |
83 | 426 | 0.1948 | -39 | c.-21 others(50): Show |
CSTF2T | ENSG00000177613.9 | transcript | ENST00000331173.6 | protein_coding | 2108 | chr10 | TogoVar | |||||||
CSTF3_chr11_33079584_33166480 | 33163897 | ATATATAT others(32): Show |
A | upstream_gene_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00738.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002 | a0001c0001t0003g0016 a0001c0001t0003g0107 a0001c0001t0003g0130 others(4): Show |
9 | 358 | 0.0251 | -39 | c.-26 others(50): Show |
CSTF3 | ENSG00000176102.13 | transcript | ENST00000323959.9 | protein_coding | 2418 | chr11 | TogoVar | |||||||
CSTF3_chr11_33079584_33166480 | 33163899 | ATATATAT others(32): Show |
A | upstream_gene_variant | MODIFIER | HG01074.hp1 HG01192.hp2 HG02071.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 a0001c0001t0003g0007 a0001c0001t0003g0015 others(11): Show |
21 | 341 | 0.0616 | -39 | c.-26 others(50): Show |
CSTF3 | ENSG00000176102.13 | transcript | ENST00000323959.9 | protein_coding | 2420 | chr11 | TogoVar | |||||||
CSTF3_chr11_33079584_33166480 | 33163901 | ATATATAT others(32): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG01346.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0030 a0001c0001t0003g0126 a0001c0001t0003g0127 others(17): Show |
20 | 318 | 0.0629 | -39 | c.-26 others(50): Show |
CSTF3 | ENSG00000176102.13 | transcript | ENST00000323959.9 | protein_coding | 2422 | chr11 | TogoVar |