| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CDC42_chr1_22047709_22106360 | 22054921 | ATTTTTTT others(22): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00544.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(12): Show | a0001c0001t0003g0054a0001c0001t0005g0003a0001c0001t0005g0027others(17): Show | 20 | 352 | 0.0568 | -29 | c.-51 others(46): Show |
CDC42 | ENSG00000070831.18 | transcript | ENST00000656825.1 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CDH13_chr16_82621969_83805640 | 83443716 | AAAAAAAA others(22): Show |
A | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0010 | 1 | 110 | 0.0091 | -29 | c.782 others(48): Show |
CDH13 | ENSG00000140945.17 | transcript | ENST00000567109.6 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CDH13_chr16_82621969_83805640 | 83443718 | AAAAAAAA others(22): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02717.hp2 HG03098.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0033a0001c0002t0006 | a0001c0001t0002g0089a0001c0001t0033g0049a0001c0002t0006g0037 | 3 | 110 | 0.0273 | -29 | c.782 others(48): Show |
CDH13 | ENSG00000140945.17 | transcript | ENST00000567109.6 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CDH15_chr16_89166748_89200492 | 89186182 | TTACCCAG others(22): Show |
T | intron_variant | MODIFIER | HG01175.hp2 NA18969.hp2 NA19068.hp1 others(1): Show |
a0002a0003 | a0002c0004a0003c0003 | a0002c0004t0004a0003c0003t0001 | a0002c0004t0004g0116a0002c0004t0004g0117a0002c0004t0004g0119others(1): Show | 4 | 406 | 0.0099 | -29 | c.663 others(44): Show |
CDH15 | ENSG00000129910.8 | transcript | ENST00000289746.3 | protein_coding | 5/13 | chr16 | TogoVar | ||||||
| CDH20_chr18_61328430_61560779 | 61500102 | TAAAAAAA others(22): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG02109.hp1 HG02258.hp2 others(2): Show |
a0001a0008 | a0001c0001a0008c0022 | a0001c0001t0001a0001c0001t0016a0008c0022t0016 | a0001c0001t0001g0032a0001c0001t0001g0053a0001c0001t0001g0059others(2): Show | 5 | 280 | 0.0179 | -29 | c.542 others(44): Show |
CDH20 | ENSG00000101542.10 | transcript | ENST00000262717.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| CDH22_chr20_46168739_46313498 | 46226257 | TTCTTCTT others(22): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02572.hp2 HG02622.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001 | a0001c0001t0001g0038a0001c0001t0001g0093a0001c0001t0001g0208others(5): Show | 8 | 318 | 0.0252 | -29 | c.670 others(46): Show |
CDH22 | ENSG00000149654.11 | transcript | ENST00000537909.4 | protein_coding | 4/11 | chr20 | TogoVar | ||||||
| CDH22_chr20_46168739_46313498 | 46226260 | TTCTTCTT others(22): Show |
T | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0102 | 1 | 318 | 0.0031 | -29 | c.670 others(46): Show |
CDH22 | ENSG00000149654.11 | transcript | ENST00000537909.4 | protein_coding | 4/11 | chr20 | TogoVar | ||||||
| CDH4_chr20_61247261_61945617 | 61522704 | TGCGGGCT others(22): Show |
T | intron_variant | MODIFIER | HG01433.hp1 HG01433.hp2 HG02257.hp2 others(1): Show |
a0001a0002 | a0001c0003a0001c0011a0002c0002others(1): Show | a0001c0003t0036a0001c0011t0008a0002c0002t0022others(1): Show | a0001c0003t0036g0043a0001c0011t0008g0101a0002c0002t0022g0105others(1): Show | 4 | 106 | 0.0377 | -29 | c.170 others(50): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CDH7_chr18_65746012_65895337 | 65842822 | TGTATTAT others(22): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01257.hp1 HG01258.hp1 others(16): Show |
a0002 | a0002c0002a0002c0010 | a0002c0002t0001a0002c0002t0003a0002c0002t0010others(7): Show | a0002c0002t0001g0189a0002c0002t0003g0015a0002c0002t0003g0035others(16): Show | 19 | 208 | 0.0914 | -29 | c.982 others(44): Show |
CDH7 | ENSG00000081138.14 | transcript | ENST00000397968.4 | protein_coding | 6/11 | chr18 | TogoVar | ||||||
| CDH7_chr18_65746012_65895337 | 65849350 | TTTTCTTT others(22): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG02895.hp2 HG02897.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0020a0001c0001t0049a0002c0002t0003others(1): Show | a0001c0001t0020g0142a0001c0001t0049g0026a0002c0002t0003g0047others(2): Show | 5 | 208 | 0.0240 | -29 | c.123 others(48): Show |
CDH7 | ENSG00000081138.14 | transcript | ENST00000397968.4 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| CDHR1_chr10_84189537_84223694 | 84190114 | TCACCTCA others(22): Show |
T | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01099.hp2 HG01433.hp2 others(12): Show |
a0001a0007a0011 | a0001c0002a0001c0003a0007c0011others(1): Show | a0001c0002t0003a0001c0002t0005a0001c0002t0023others(7): Show | a0001c0002t0003g0037a0001c0002t0003g0195a0001c0002t0005g0012others(9): Show | 15 | 388 | 0.0387 | -29 | c.-46 others(40): Show |
CDHR1 | ENSG00000148600.15 | transcript | ENST00000623527.4 | protein_coding | 4422 | chr10 | TogoVar | ||||||
| CDK12_chr17_39456486_39539544 | 39516467 | CCACCTTA others(22): Show |
C | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 260 | 0.0039 | -29 | c.284 others(46): Show |
CDK12 | ENSG00000167258.16 | transcript | ENST00000447079.6 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| CDK15_chr2_201801537_201900550 | 201875346 | GTACAGCT others(22): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0009a0001c0001t0030g0134 | 2 | 322 | 0.0062 | -29 | c.105 others(48): Show |
CDK15 | ENSG00000138395.17 | transcript | ENST00000652192.3 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CDK19_chr6_110604978_110820469 | 110647499 | TCCAGTAG others(22): Show |
T | intron_variant | MODIFIER | NA19063.hp2 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0140a0001c0001t0006g0230 | 2 | 300 | 0.0067 | -29 | c.457 others(46): Show |
CDK19 | ENSG00000155111.15 | transcript | ENST00000368911.8 | protein_coding | 4/12 | chr6 | TogoVar | ||||||
| CDK19_chr6_110604978_110820469 | 110780444 | AATCTTCT others(22): Show |
A | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0138 | 1 | 300 | 0.0033 | -29 | c.129 others(48): Show |
CDK19 | ENSG00000155111.15 | transcript | ENST00000368911.8 | protein_coding | 1/12 | chr6 | TogoVar | ||||||
| CDK2AP1_chr12_123255976_123276856 | 123274766 | GGAAGGAA others(22): Show |
G | upstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0043 | 1 | 328 | 0.0031 | -29 | c.-31 others(40): Show |
CDK2AP1 | ENSG00000111328.7 | transcript | ENST00000261692.7 | protein_coding | 2911 | chr12 | TogoVar | ||||||
| CDK2AP1_chr12_123255976_123276856 | 123274770 | GGAAGGAA others(22): Show |
G | upstream_gene_variant | MODIFIER | HG02148.hp1 NA18951.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0132a0001c0001t0003g0017 | 2 | 328 | 0.0061 | -29 | c.-31 others(40): Show |
CDK2AP1 | ENSG00000111328.7 | transcript | ENST00000261692.7 | protein_coding | 2915 | chr12 | TogoVar | ||||||
| CDKAL1_chr6_20529457_21237404 | 20916883 | AAAAAAGA others(22): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01167.hp2 HG01192.hp1 others(10): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0009a0001c0001t0018a0001c0002t0001others(9): Show | a0001c0001t0009g0138a0001c0001t0018g0005a0001c0002t0001g0148others(10): Show | 13 | 196 | 0.0663 | -29 | c.743 others(48): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CDKL2_chr4_75571496_75635528 | 75595975 | AAGAAGGA others(22): Show |
A | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 | 1 | 306 | 0.0033 | -29 | c.141 others(46): Show |
CDKL2 | ENSG00000138769.11 | transcript | ENST00000307465.9 | protein_coding | 10/13 | chr4 | TogoVar | ||||||
| CEACAM19_chr19_44666482_44689355 | 44667876 | TAAATATA others(22): Show |
T | upstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 390 | 0.0026 | -29 | c.-40 others(40): Show |
CEACAM19 | ENSG00000186567.14 | transcript | ENST00000358777.10 | protein_coding | 3605 | chr19 | TogoVar | ||||||
| CEACAM19_chr19_44666482_44689355 | 44668226 | ATATTATA others(22): Show |
A | upstream_gene_variant | MODIFIER | HG00673.hp1 HG01255.hp2 HG02155.hp1 others(13): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0059others(9): Show | 16 | 390 | 0.0410 | -29 | c.-37 others(40): Show |
CEACAM19 | ENSG00000186567.14 | transcript | ENST00000358777.10 | protein_coding | 3255 | chr19 | TogoVar | ||||||
| CEBPZOS_chr2_37191496_37209743 | 37202644 | CAAAAAAA others(22): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0076 | a0001c0001t0076g0004 | 1 | 466 | 0.0022 | -29 | c.*80 others(38): Show |
CEBPZOS | ENSG00000218739.10 | transcript | ENST00000402297.6 | protein_coding | 5/5 | 940 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
| CEBPZ_chr2_37196612_37236596 | 37202644 | CAAAAAAA others(22): Show |
C | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 438 | 0.0023 | -29 | c.302 others(46): Show |
CEBPZ | ENSG00000115816.15 | transcript | ENST00000234170.10 | protein_coding | 15/15 | chr2 | TogoVar | ||||||
| CEMIP_chr15_80774370_80956771 | 80848953 | ATTTTTTT others(22): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp2 HG03486.hp2 others(2): Show |
a0001 | a0001c0003a0001c0011a0001c0019 | a0001c0003t0001a0001c0003t0004a0001c0011t0001others(1): Show | a0001c0003t0001g0146a0001c0003t0004g0133a0001c0011t0001g0130others(2): Show | 5 | 254 | 0.0197 | -29 | c.-17 others(50): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| CEP126_chr11_101910010_102006062 | 101911094 | CTTTTTTT others(22): Show |
C | upstream_gene_variant | MODIFIER | HG01346.hp1 HG02451.hp1 HG02818.hp2 others(4): Show |
a0001a0005 | a0001c0001a0001c0009a0005c0006 | a0001c0001t0006a0001c0001t0011a0001c0001t0036others(3): Show | a0001c0001t0006g0004a0001c0001t0011g0129a0001c0001t0011g0130others(4): Show | 7 | 336 | 0.0208 | -29 | c.-41 others(40): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 3915 | chr11 | TogoVar | ||||||
| CEP128_chr14_80491479_80946738 | 80637701 | TATCCTAT others(22): Show |
T | intron_variant | MODIFIER | HG03490.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0138 | 1 | 164 | 0.0061 | -29 | c.280 others(50): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
| CES3_chr16_66956266_66980149 | 66960436 | TTTCTTTC others(22): Show |
T | upstream_gene_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0012 | a0002c0012t0001 | a0002c0012t0001g0031 | 1 | 330 | 0.0030 | -29 | c.-87 others(38): Show |
CES3 | ENSG00000172828.13 | transcript | ENST00000303334.9 | protein_coding | 829 | chr16 | TogoVar | ||||||
| CFAP100_chr3_126389909_126441556 | 126401398 | TATATATA others(22): Show |
T | intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0288 | 1 | 422 | 0.0024 | -29 | c.49+ others(44): Show |
CFAP100 | ENSG00000163885.12 | transcript | ENST00000352312.6 | protein_coding | 2/16 | chr3 | TogoVar | ||||||
| CFAP141_chr1_154194085_154211333 | 154203171 | AAATATAT others(22): Show |
A | intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 372 | 0.0027 | -29 | c.74+ others(44): Show |
CFAP141 | ENSG00000163263.7 | transcript | ENST00000368525.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
| CFAP251_chr12_121913592_122008919 | 121988500 | TTTCACTC others(22): Show |
T | intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 354 | 0.0028 | -29 | c.300 others(50): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CFAP299_chr4_80330730_80968750 | 80799322 | ATATTTAT others(22): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG03017.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001a0002c0002t0001g0068 | 2 | 96 | 0.0208 | -29 | c.334 others(48): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CFAP46_chr10_132803392_132947570 | 132822023 | GTGTGAGT others(22): Show |
G | intron_variant | MODIFIER | NA20129.hp2 | a0005 | a0005c0047 | a0005c0047t0001 | a0005c0047t0001g0216 | 1 | 246 | 0.0041 | -29 | c.711 others(48): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
| CFAP46_chr10_132803392_132947570 | 132864847 | GTGCCTGA others(22): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00544.hp1 others(6): Show |
a0011a0019a0035others(2): Show | a0011c0010a0019c0020a0035c0057others(2): Show | a0011c0010t0001a0019c0020t0001a0035c0057t0001others(2): Show | a0011c0010t0001g0197a0011c0010t0001g0198a0011c0010t0001g0202others(6): Show | 9 | 246 | 0.0366 | -29 | c.489 others(48): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 35/57 | chr10 | TogoVar | ||||||
| CFAP52_chr17_9571642_9648447 | 9636182 | AGAAAGAA others(22): Show |
A | intron_variant | MODIFIER | HG02615.hp2 NA21309.hp2 |
a0001 | a0001c0004a0001c0005 | a0001c0004t0004a0001c0005t0004 | a0001c0004t0004g0036a0001c0005t0004g0215 | 2 | 316 | 0.0063 | -29 | c.147 others(46): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 11/13 | chr17 | TogoVar | ||||||
| CFAP61_chr20_20047532_20365698 | 20175485 | TTTGTTTT others(22): Show |
T | intron_variant | MODIFIER | HG01891.hp1 | a0017 | a0017c0037 | a0017c0037t0005 | a0017c0037t0005g0138 | 1 | 236 | 0.0042 | -29 | c.138 others(48): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 13/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CFAP61_chr20_20047532_20365698 | 20296291 | CTCCTTCC others(22): Show |
C | intron_variant | MODIFIER | HG01169.hp2 HG03834.hp2 |
a0003a0011 | a0003c0005a0011c0018 | a0003c0005t0001a0011c0018t0003 | a0003c0005t0001g0080a0011c0018t0003g0122 | 2 | 236 | 0.0085 | -29 | c.321 others(48): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CFAP77_chr9_132405211_132578319 | 132449265 | TTGCACTC others(22): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp1 others(105): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0032others(105): Show | 108 | 322 | 0.3354 | -29 | c.195 others(48): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CFAP77_chr9_132405211_132578319 | 132577444 | GAGGAGGA others(22): Show |
G | downstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0013 | 1 | 322 | 0.0031 | -29 | c.*49 others(40): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 4126 | chr9 | TogoVar | ||||||
| CFI_chr4_109735695_109806999 | 109753717 | ATAATGTA others(22): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG02886.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0149a0003c0004t0001g0150 | 2 | 354 | 0.0057 | -29 | c.905 others(46): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
| CFI_chr4_109735695_109806999 | 109753816 | TTTATATT others(22): Show |
T | intron_variant | MODIFIER | HG00673.hp1 HG00735.hp2 HG02027.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0174a0001c0001t0001g0275a0001c0001t0001g0276others(20): Show | 23 | 354 | 0.0650 | -29 | c.905 others(46): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
| CGNL1_chr15_57371505_57555717 | 57405814 | CTTTCTTT others(22): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02273.hp1 HG02683.hp1 others(5): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0002c0026others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0197a0001c0001t0002g0149a0001c0001t0002g0216others(5): Show | 8 | 294 | 0.0272 | -29 | c.-16 others(48): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| CGN_chr1_151506387_151543692 | 151531808 | TTTATCAT others(22): Show |
T | intron_variant | MODIFIER | HG01978.hp1 HG02145.hp1 HG02451.hp2 others(2): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001a0001c0007t0005 | a0001c0001t0001g0208a0001c0007t0001g0168a0001c0007t0001g0170others(2): Show | 5 | 382 | 0.0131 | -29 | c.257 others(46): Show |
CGN | ENSG00000143375.15 | transcript | ENST00000271636.12 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CHAC2_chr2_53762804_53780196 | 53765900 | TTCTTTGG others(22): Show |
T | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00733.hp1 HG01069.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0033others(8): Show | 26 | 426 | 0.0610 | -29 | c.-19 others(40): Show |
CHAC2 | ENSG00000143942.5 | transcript | ENST00000295304.5 | protein_coding | 1903 | chr2 | TogoVar | ||||||
| CHADL_chr22_41224513_41245931 | 41242136 | ATATATAC others(22): Show |
A | upstream_gene_variant | MODIFIER | HG03130.hp2 HG03139.hp2 HG06807.hp1 others(3): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0002a0002c0003t0002 | a0002c0002t0002g0203a0002c0003t0002g0037a0002c0003t0002g0206others(1): Show | 6 | 414 | 0.0145 | -29 | c.-12 others(40): Show |
CHADL | ENSG00000100399.16 | transcript | ENST00000216241.14 | protein_coding | 1206 | chr22 | TogoVar | ||||||
| CHAF1B_chr21_36380392_36424015 | 36389068 | CGGTACCC others(22): Show |
C | intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0064 | 1 | 346 | 0.0029 | -29 | c.259 others(46): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| CHCHD6_chr3_126699240_126965420 | 126856950 | CCAGCTGT others(22): Show |
C | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 216 | 0.0046 | -29 | c.495 others(46): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | chr3 | TogoVar | ||||||
| CHEK2_chr22_28682743_28746820 | 28745339 | GGAGTTCA others(22): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(135): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(133): Show | 138 | 384 | 0.3594 | -29 | c.-36 others(40): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 3520 | chr22 | TogoVar | ||||||
| CHGB_chr20_5906510_5930353 | 5926063 | AAAAAAAT others(22): Show |
A | downstream_gene_variant | MODIFIER | HG00558.hp1 NA18981.hp2 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0015a0003c0003t0003g0084 | 2 | 440 | 0.0046 | -29 | c.*10 others(40): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 711 | chr20 | TogoVar | ||||||
| CHGB_chr20_5906510_5930353 | 5926069 | ATATATAT others(22): Show |
A | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02886.hp1 HG03516.hp1 |
a0011 | a0011c0011 | a0011c0011t0001 | a0011c0011t0001g0023a0011c0011t0001g0058 | 3 | 440 | 0.0068 | -29 | c.*10 others(40): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 717 | chr20 | TogoVar | ||||||
| CHMP3_chr2_86498430_86568443 | 86562329 | AAGCACTG others(22): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG02886.hp2 HG02896.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0031 | a0001c0001t0002g0017a0001c0001t0002g0171a0001c0001t0002g0174others(4): Show | 8 | 336 | 0.0238 | -29 | c.45+ others(42): Show |
CHMP3 | ENSG00000115561.16 | transcript | ENST00000263856.9 | protein_coding | 1/5 | chr2 | TogoVar |