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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL23A1_chr5_178232618_178595393 | 178498205 | AATATATA others(27): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG03491.hp1 HG03492.hp1 others(1): Show |
a0002a0004 | a0002c0002a0004c0006 | a0002c0002t0001a0004c0006t0004 | a0002c0002t0001g0026 a0002c0002t0001g0046 a0004c0006t0004g0135 others(1): Show |
4 | 38 | 0.1053 | -34 | c.361 others(53): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85875716 | GACACACA others(27): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG02145.hp2 HG02280.hp2 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0031a0003c0003others(2): Show | a0001c0001t0002a0002c0031t0004a0003c0003t0004others(3): Show | a0001c0001t0002g0092 a0001c0001t0002g0125 a0001c0001t0002g0126 others(6): Show |
9 | 37 | 0.2432 | -34 | c.303 others(51): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 33/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 86097505 | TCCTCCTC others(27): Show |
T | intron_variant | MODIFIER | HG02015.hp2 HG02080.hp2 NA18747.hp2 others(2): Show |
a0005 | a0005c0004a0005c0013 | a0005c0004t0001a0005c0004t0002a0005c0013t0002 | a0005c0004t0001g0177 a0005c0004t0001g0181 a0005c0004t0001g0195 others(2): Show |
5 | 162 | 0.0309 | -34 | c.160 others(53): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 5/59 | chr1 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109211274 | CTATATAT others(27): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00735.hp1 others(57): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0037 a0001c0001t0001g0059 a0001c0001t0001g0062 others(57): Show |
60 | 120 | 0.5000 | -34 | c.367 others(53): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL26A1_chr7_101357875_101564024 | 101445789 | TCTGTAAT others(27): Show |
T | intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0140 | 1 | 172 | 0.0058 | -34 | c.282 others(51): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101489754 | CTCTCTTT others(27): Show |
C | intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0008 | a0001c0008t0007 | a0001c0008t0007g0071 | 1 | 166 | 0.0060 | -34 | c.385 others(53): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110313545 | CGTCCACC others(27): Show |
C | intron_variant | MODIFIER | HG01192.hp1 | a0003 | a0003c0026 | a0003c0026t0001 | a0003c0026t0001g0032 | 1 | 305 | 0.0033 | -34 | c.99+ others(49): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110313647 | CGTCCACC others(27): Show |
C | intron_variant | MODIFIER | HG02559.hp2 | a0007 | a0007c0059 | a0007c0059t0024 | a0007c0059t0024g0252 | 1 | 364 | 0.0027 | -34 | c.99+ others(49): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110313715 | CGTCCACC others(27): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01192.hp1 HG02257.hp2 others(5): Show |
a0001a0002a0003 | a0001c0015a0001c0037a0001c0098others(5): Show | a0001c0015t0002a0001c0037t0005a0001c0098t0005others(5): Show | a0001c0015t0002g0269 a0001c0037t0005g0185 a0001c0098t0005g0237 others(5): Show |
8 | 369 | 0.0217 | -34 | c.99+ others(49): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110313817 | TGTCCACC others(27): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00597.hp2 others(76): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(55): Show | a0001c0001t0001g0232 a0001c0001t0002g0333 a0001c0001t0003g0064 others(76): Show |
79 | 295 | 0.2678 | -34 | c.99+ others(49): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110493115 | GAAATAAC others(27): Show |
G | frameshift_variant others(3): Show |
HIGH | HG03516.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0202 | 1 | 370 | 0.0027 | -34 | c.356 others(46): Show |
p.Gly others(6): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 39/48 | 3563/5139 | 1188/1712 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||
COL4A3_chr2_227159624_227319792 | 227202831 | CTATGTGT others(27): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02698.hp1 HG02818.hp1 others(6): Show |
a0002a0003a0006others(1): Show | a0002c0007a0003c0002a0006c0013others(1): Show | a0002c0007t0001a0002c0007t0003a0002c0007t0010others(4): Show | a0002c0007t0001g0059 a0002c0007t0001g0068 a0002c0007t0003g0257 others(6): Show |
9 | 308 | 0.0292 | -34 | c.88- others(51): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227203374 | TACATACA others(27): Show |
T | intron_variant | MODIFIER | HG01071.hp1 | a0014 | a0014c0023 | a0014c0023t0002 | a0014c0023t0002g0080 | 1 | 320 | 0.0031 | -34 | c.88- others(51): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134747941 | TCATACAC others(27): Show |
T | intron_variant | MODIFIER | NA21309.hp1 | a0014 | a0014c0053 | a0014c0053t0029 | a0014c0053t0029g0134 | 1 | 266 | 0.0038 | -34 | c.149 others(53): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 11/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A3_chr19_9954561_10015504 | 9994559 | CATATATA others(27): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG03041.hp2 |
a0003a0012 | a0003c0009a0012c0025 | a0003c0009t0003a0012c0025t0003 | a0003c0009t0003g0295 a0012c0025t0003g0294 |
2 | 58 | 0.0345 | -34 | c.158 others(51): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 16/66 | chr19 | TogoVar | |||||||
COL6A1_chr21_45976770_46010048 | 45989998 | AGGGGTCC others(27): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(96): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0003a0001c0009others(27): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(37): Show | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0007 others(96): Show |
99 | 126 | 0.7857 | -34 | c.931 others(49): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 11/34 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL6A3_chr2_237319018_237419164 | 237332070 | CATATATA others(27): Show |
C | intron_variant | MODIFIER | HG02602.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0134 | 1 | 194 | 0.0052 | -34 | c.932 others(53): Show |
COL6A3 | ENSG00000163359.17 | transcript | ENST00000295550.9 | protein_coding | 42/43 | chr2 | TogoVar | |||||||
COLEC11_chr2_3590112_3649644 | 3640965 | CCATGTAG others(27): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01123.hp2 HG01243.hp1 others(28): Show |
a0002a0003 | a0002c0002a0003c0009 | a0002c0002t0001a0003c0009t0001 | a0002c0002t0001g0001 a0002c0002t0001g0011 a0002c0002t0001g0018 others(25): Show |
31 | 376 | 0.0824 | -34 | c.328 others(49): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 5/6 | chr2 | TogoVar | |||||||
COLEC11_chr2_3590112_3649644 | 3648895 | TGCCTCCC others(27): Show |
T | downstream_gene_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0346 | 1 | 376 | 0.0027 | -34 | c.*47 others(45): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 4252 | chr2 | TogoVar | |||||||
COPS5_chr8_67038079_67067133 | 67041968 | TACACACA others(27): Show |
T | downstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 64 | 0.0156 | -34 | c.*12 others(45): Show |
COPS5 | ENSG00000121022.14 | transcript | ENST00000357849.9 | protein_coding | 1110 | chr8 | TogoVar | |||||||
COQ8A_chr1_226935294_226992544 | 226944716 | AGAGAGAG others(27): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG01099.hp2 others(43): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0128 others(36): Show |
46 | 410 | 0.1122 | -34 | c.-10 others(51): Show |
COQ8A | ENSG00000163050.18 | transcript | ENST00000366777.4 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COQ8A_chr1_226935294_226992544 | 226944730 | AGAGAGAG others(27): Show |
A | intron_variant | MODIFIER | NA18970.hp2 | a0003 | a0003c0005 | a0003c0005t0005 | a0003c0005t0005g0047 | 1 | 399 | 0.0025 | -34 | c.-10 others(51): Show |
COQ8A | ENSG00000163050.18 | transcript | ENST00000366777.4 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COQ8A_chr1_226935294_226992544 | 226944744 | AGAGAGTG others(27): Show |
A | intron_variant | MODIFIER | HG06807.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0271 a0001c0001t0002g0272 |
2 | 409 | 0.0049 | -34 | c.-10 others(51): Show |
COQ8A | ENSG00000163050.18 | transcript | ENST00000366777.4 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CORO1A_chr16_30178602_30194076 | 30190144 | ATATATAT others(27): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG01099.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0002t0001g0001 a0001c0002t0001g0009 others(1): Show |
10 | 336 | 0.0298 | -34 | c.*11 others(45): Show |
CORO1A | ENSG00000102879.17 | transcript | ENST00000219150.10 | protein_coding | 1069 | chr16 | TogoVar | |||||||
CORO1A_chr16_30178602_30194076 | 30190383 | ATATAATA others(27): Show |
A | downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 340 | 0.0029 | -34 | c.*14 others(45): Show |
CORO1A | ENSG00000102879.17 | transcript | ENST00000219150.10 | protein_coding | 1308 | chr16 | TogoVar | |||||||
CORO2B_chr15_68573993_68732806 | 68650373 | AAAAAAAA others(27): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02630.hp1 HG02922.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0017others(1): Show | a0001c0001t0002g0181 a0001c0001t0005g0194 a0001c0001t0017g0251 others(1): Show |
4 | 254 | 0.0157 | -34 | c.216 others(51): Show |
CORO2B | ENSG00000103647.13 | transcript | ENST00000261861.10 | protein_coding | 2/11 | chr15 | TogoVar | |||||||
CPAMD8_chr19_16887951_17031810 | 16967863 | TTGTATAT others(27): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02572.hp1 HG02622.hp2 others(3): Show |
a0002a0017a0040others(1): Show | a0002c0018a0017c0185a0040c0175others(1): Show | a0002c0018t0001a0017c0185t0001a0040c0175t0001others(1): Show | a0002c0018t0001g0115 a0002c0018t0001g0116 a0017c0185t0001g0058 others(3): Show |
6 | 122 | 0.0492 | -34 | c.221 others(53): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 18/41 | chr19 | TogoVar | |||||||
CPLX3_chr15_74821627_74836802 | 74822105 | GAGGTCAA others(27): Show |
G | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01255.hp1 HG01884.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0021 others(1): Show |
18 | 440 | 0.0409 | -34 | c.-45 others(45): Show |
CPLX3 | ENSG00000213578.6 | transcript | ENST00000395018.6 | protein_coding | 4521 | chr15 | TogoVar | |||||||
CPM_chr12_68846175_68938171 | 68847167 | ATGTGTTT others(27): Show |
A | downstream_gene_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0071 | 1 | 338 | 0.0030 | -34 | c.*92 others(45): Show |
CPM | ENSG00000135678.12 | transcript | ENST00000551568.6 | protein_coding | 4007 | chr12 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131814572 | ATTTTTTT others(27): Show |
A | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088 | 1 | 10 | 0.1000 | -34 | c.180 others(53): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 2/15 | chr3 | TogoVar | |||||||
CPQ_chr8_96640242_97148501 | 96880518 | CATATATA others(27): Show |
C | intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 8 | 0.1250 | -34 | c.849 others(49): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPZ_chr4_8587765_8624752 | 8614229 | ACGTCCCG others(27): Show |
A | intron_variant | MODIFIER | HG02056.hp2 HG02132.hp2 |
a0001 | a0001c0026 | a0001c0026t0002 | a0001c0026t0002g0191 a0001c0026t0002g0193 |
2 | 440 | 0.0045 | -34 | c.136 others(50): Show |
CPZ | ENSG00000109625.19 | transcript | ENST00000360986.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CPZ_chr4_8587765_8624752 | 8614247 | CGCGGCTG others(27): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0058 | a0001c0058t0002 | a0001c0058t0002g0070 | 1 | 440 | 0.0023 | -34 | c.136 others(49): Show |
CPZ | ENSG00000109625.19 | transcript | ENST00000360986.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207617594 | TATATATA others(27): Show |
T | intron_variant | MODIFIER | HG02630.hp2 NA18906.hp1 |
a0022a0029 | a0022c0048a0029c0049 | a0022c0048t0005a0029c0049t0002 | a0022c0048t0005g0026 a0029c0049t0002g0066 |
2 | 331 | 0.0060 | -34 | c.689 others(51): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207617600 | TATATATA others(27): Show |
T | intron_variant | MODIFIER | HG02622.hp1 | a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0271 | 1 | 316 | 0.0032 | -34 | c.689 others(51): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207617602 | TATATATA others(27): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02559.hp1 HG02630.hp1 others(4): Show |
a0005a0026 | a0005c0008a0026c0047 | a0005c0008t0002a0026c0047t0012 | a0005c0008t0002g0268 a0005c0008t0002g0269 a0005c0008t0002g0272 others(4): Show |
7 | 319 | 0.0219 | -34 | c.689 others(51): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207617604 | TATATATA others(27): Show |
T | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0257 a0005c0008t0002g0258 |
2 | 325 | 0.0062 | -34 | c.689 others(51): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CRACD_chr4_56044098_56335609 | 56295660 | CATATATA others(27): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG03704.hp2 NA19081.hp2 |
a0001a0003 | a0001c0001a0003c0003a0003c0006 | a0001c0001t0004a0003c0003t0001a0003c0006t0001 | a0001c0001t0004g0217 a0003c0003t0001g0221 a0003c0006t0001g0122 |
3 | 14 | 0.2143 | -34 | c.-16 others(51): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CREB3L2_chr7_137869979_138007086 | 137922382 | ATGTATAT others(27): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(133): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0014 others(132): Show |
136 | 286 | 0.4755 | -34 | c.319 others(51): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
CREB3L2_chr7_137869979_138007086 | 137922404 | ATATATAT others(27): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG02965.hp1 HG03209.hp2 others(1): Show |
a0001a0002 | a0001c0007a0002c0008 | a0001c0007t0015a0001c0007t0019a0001c0007t0028others(1): Show | a0001c0007t0015g0142 a0001c0007t0019g0043 a0001c0007t0028g0082 others(1): Show |
4 | 286 | 0.0140 | -34 | c.319 others(51): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
CREB5_chr7_28407518_28830894 | 28642953 | CACACACA others(27): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02129.hp1 HG02155.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0060 a0001c0001t0001g0097 others(5): Show |
8 | 196 | 0.0408 | -34 | c.464 others(53): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CREBRF_chr5_173051352_173144284 | 173132433 | CTCCCCTC others(27): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0020 a0001c0001t0011g0021 |
2 | 290 | 0.0069 | -34 | c.180 others(53): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 8/8 | chr5 | TogoVar | |||||||
CREG2_chr2_101340550_101392503 | 101389016 | GTTTATAT others(27): Show |
G | upstream_gene_variant | MODIFIER | HG03195.hp2 | a0004 | a0004c0005 | a0004c0005t0045 | a0004c0005t0045g0241 | 1 | 208 | 0.0048 | -34 | c.-15 others(45): Show |
CREG2 | ENSG00000175874.10 | transcript | ENST00000324768.6 | protein_coding | 1514 | chr2 | TogoVar | |||||||
CRELD2_chr22_49913634_49932537 | 49926332 | CCTCACAG others(27): Show |
C | intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0154 | 1 | 322 | 0.0031 | -34 | c.100 others(51): Show |
CRELD2 | ENSG00000184164.15 | transcript | ENST00000328268.9 | protein_coding | 9/9 | chr22 | TogoVar | |||||||
CRISPLD2_chr16_84814985_84914508 | 84840700 | GTTTCACC others(27): Show |
G | intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0069 | 1 | 378 | 0.0026 | -34 | c.240 others(51): Show |
CRISPLD2 | ENSG00000103196.12 | transcript | ENST00000262424.10 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CRNN_chr1_152404243_152419263 | 152418257 | GCATACAC others(27): Show |
G | upstream_gene_variant | MODIFIER | HG02055.hp2 NA18972.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 224 | 0.0089 | -34 | c.-40 others(45): Show |
CRNN | ENSG00000143536.7 | transcript | ENST00000271835.3 | protein_coding | 3995 | chr1 | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240923760 | GACCCAGC others(27): Show |
G | intron_variant | MODIFIER | HG00673.hp2 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0316 | 1 | 222 | 0.0045 | -34 | c.488 others(51): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240924736 | AACCCAGC others(27): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0043 | a0043c0036 | a0043c0036t0001 | a0043c0036t0001g0234 | 1 | 291 | 0.0034 | -34 | c.489 others(49): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240924826 | GGCCCCCA others(27): Show |
G | intron_variant | MODIFIER | HG02630.hp1 HG02809.hp2 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0271 a0003c0003t0002g0335 |
2 | 252 | 0.0079 | -34 | c.489 others(49): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240985648 | ACACACAC others(27): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG01192.hp2 HG01981.hp1 others(17): Show |
a0001a0005a0006others(2): Show | a0001c0001a0001c0022a0005c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0022t0002others(4): Show | a0001c0001t0001g0077 a0001c0001t0001g0108 a0001c0001t0001g0122 others(17): Show |
20 | 287 | 0.0697 | -34 | c.455 others(53): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 28/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |