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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAPN15_chr16_522712_559636 | 531579 | TAGGGCCA others(49): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG02257.hp1 others(4): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0012a0003c0033others(3): Show | a0001c0001t0001a0002c0012t0002a0003c0033t0003others(3): Show | a0001c0001t0001g0362 a0002c0012t0002g0267 a0003c0033t0003g0363 others(3): Show |
7 | 410 | 0.0171 | -56 | c.-18 others(75): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 531612 | TTCTCTGG others(49): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01070.hp2 HG01168.hp2 others(24): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(14): Show | a0001c0001t0001g0384 a0001c0001t0001g0394 a0001c0001t0002g0353 others(23): Show |
27 | 410 | 0.0659 | -56 | c.-18 others(75): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAPZA2_chr7_116857587_116927049 | 116890523 | AAAATATA others(49): Show |
A | intron_variant | MODIFIER | NA18747.hp1 NA18973.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 a0001c0001t0001g0229 |
2 | 354 | 0.0057 | -56 | c.103 others(73): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAPZA2_chr7_116857587_116927049 | 116890545 | TATATATA others(49): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0095 | 1 | 354 | 0.0028 | -56 | c.103 others(73): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAPZA2_chr7_116857587_116927049 | 116890555 | TATATATA others(49): Show |
T | intron_variant | MODIFIER | HG02965.hp2 HG02976.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0334 a0001c0002t0003g0335 |
2 | 354 | 0.0057 | -56 | c.103 others(73): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CASP4_chr11_104937866_104973574 | 104952580 | CAAAATCC others(49): Show |
C | intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 358 | 0.0028 | -56 | c.263 others(71): Show |
CASP4 | ENSG00000196954.14 | transcript | ENST00000444739.7 | protein_coding | 2/8 | chr11 | TogoVar | |||||||
CATSPERE_chr1_244456273_244645504 | 244621018 | AATATATA others(49): Show |
A | intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0203 | 1 | 206 | 0.0049 | -56 | c.264 others(75): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CC2D2B_chr10_95902975_96038745 | 95993920 | GTGTGTGT others(49): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG01496.hp2 others(43): Show |
a0001a0003a0008others(3): Show | a0001c0001a0001c0007a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0002others(6): Show | a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 others(43): Show |
46 | 312 | 0.1474 | -56 | c.264 others(75): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 22/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CC2D2B_chr10_95902975_96038745 | 95993922 | GTGTGTGT others(49): Show |
G | intron_variant | MODIFIER | HG01123.hp1 HG02738.hp1 |
a0001a0013 | a0001c0001a0013c0013 | a0001c0001t0003a0013c0013t0001 | a0001c0001t0003g0185 a0013c0013t0001g0055 |
2 | 312 | 0.0064 | -56 | c.264 others(75): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 22/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CCDC178_chr18_32932406_33445721 | 33096293 | AATATAAA others(49): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG02257.hp2 others(23): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0002a0002c0002t0001a0002c0002t0002others(6): Show | a0001c0001t0002g0024 a0002c0002t0001g0004 a0002c0002t0001g0019 others(23): Show |
26 | 58 | 0.4483 | -56 | c.223 others(75): Show |
CCDC178 | ENSG00000166960.17 | transcript | ENST00000383096.8 | protein_coding | 20/22 | chr18 | TogoVar | |||||||
CCDC187_chr9_136244973_136309094 | 136285424 | CGGGCAGG others(49): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(288): Show |
a0001a0002a0003others(123): Show | a0001c0002a0001c0012a0001c0112others(151): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0028others(212): Show | a0001c0002t0001g0070 a0001c0002t0001g0074 a0001c0002t0001g0117 others(282): Show |
291 | 400 | 0.7275 | -56 | c.292 others(71): Show |
CCDC187 | ENSG00000260220.7 | transcript | ENST00000638797.2 | protein_coding | 9/25 | chr9 | TogoVar | |||||||
CCDC88A_chr2_55282842_55424856 | 55384551 | GTATATAT others(49): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG02976.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0015a0001c0006t0022 | a0001c0001t0015g0200 a0001c0006t0022g0077 |
2 | 316 | 0.0063 | -56 | c.273 others(73): Show |
CCDC88A | ENSG00000115355.18 | transcript | ENST00000436346.7 | protein_coding | 3/32 | chr2 | TogoVar | |||||||
CCL15_chr17_35992582_36006553 | 35992881 | CTTAGGTC others(49): Show |
C | downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0091 | 1 | 441 | 0.0023 | -56 | c.*48 others(67): Show |
CCL15 | ENSG00000275718.2 | transcript | ENST00000617897.2 | protein_coding | 4700 | chr17 | TogoVar | |||||||
CCL17_chr16_57399767_57421063 | 57403116 | TTATAATA others(49): Show |
T | upstream_gene_variant | MODIFIER | HG03453.hp1 NA18965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0118 |
2 | 388 | 0.0052 | -56 | c.-17 others(67): Show |
CCL17 | ENSG00000102970.11 | transcript | ENST00000219244.9 | protein_coding | 1650 | chr16 | TogoVar | |||||||
CCSER1_chr4_90122394_91610295 | 91225276 | TTTATATA others(49): Show |
T | intron_variant | MODIFIER | HG01099.hp2 HG02723.hp1 HG03130.hp1 |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0015a0001c0003t0002a0002c0002t0003 | a0001c0001t0015g0019 a0001c0003t0002g0014 a0002c0002t0003g0013 |
3 | 38 | 0.0790 | -56 | c.221 others(79): Show |
CCSER1 | ENSG00000184305.16 | transcript | ENST00000509176.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CD300LG_chr17_43842176_43868639 | 43842473 | CCTCTCCC others(49): Show |
C | upstream_gene_variant | MODIFIER | HG03209.hp1 NA18522.hp1 |
a0002a0007 | a0002c0002a0007c0006 | a0002c0002t0008a0007c0006t0001 | a0002c0002t0008g0035 a0007c0006t0001g0058 |
2 | 300 | 0.0067 | -56 | c.-47 others(67): Show |
CD300LG | ENSG00000161649.14 | transcript | ENST00000317310.5 | protein_coding | 4702 | chr17 | TogoVar | |||||||
CD46_chr1_207747054_207800504 | 207796327 | GTGTAGGG others(49): Show |
G | downstream_gene_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 380 | 0.0026 | -56 | c.*28 others(67): Show |
CD46 | ENSG00000117335.21 | transcript | ENST00000367042.6 | protein_coding | 824 | chr1 | TogoVar | |||||||
CDH12_chr5_21745673_22858344 | 22154435 | GAATATAT others(49): Show |
G | intron_variant | MODIFIER | HG02622.hp1 HG02896.hp2 NA19002.hp1 |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0011a0002c0003t0001 | a0001c0001t0001g0003 a0001c0002t0011g0009 a0002c0003t0001g0058 |
3 | 60 | 0.0500 | -56 | c.-18 others(77): Show |
CDH12 | ENSG00000154162.15 | transcript | ENST00000382254.6 | protein_coding | 4/14 | chr5 | TogoVar | |||||||
CDH13_chr16_82621969_83805640 | 83500484 | CCTCCCTC others(49): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00438.hp2 others(51): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0077 others(51): Show |
54 | 110 | 0.4909 | -56 | c.960 others(75): Show |
CDH13 | ENSG00000140945.17 | transcript | ENST00000567109.6 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH15_chr16_89166748_89200492 | 89192839 | CTAACCCC others(49): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02145.hp2 others(2): Show |
a0001 | a0001c0001a0001c0011a0001c0025 | a0001c0001t0001a0001c0011t0001a0001c0025t0001 | a0001c0001t0001g0154 a0001c0001t0001g0177 a0001c0011t0001g0293 others(2): Show |
5 | 406 | 0.0123 | -56 | c.185 others(73): Show |
CDH15 | ENSG00000129910.8 | transcript | ENST00000289746.3 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH18_chr5_19466296_19993200 | 19849687 | TATATATA others(49): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG01175.hp1 HG02145.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(6): Show | a0001c0001t0001g0015 a0001c0001t0003g0121 a0001c0001t0011g0010 others(6): Show |
9 | 138 | 0.0652 | -56 | c.-25 others(77): Show |
CDH18 | ENSG00000145526.12 | transcript | ENST00000382275.6 | protein_coding | 2/12 | chr5 | TogoVar | |||||||
CDH18_chr5_19466296_19993200 | 19960611 | GTGTATAT others(49): Show |
G | intron_variant | MODIFIER | HG01074.hp1 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0133 |
2 | 138 | 0.0145 | -56 | c.-25 others(77): Show |
CDH18 | ENSG00000145526.12 | transcript | ENST00000382275.6 | protein_coding | 2/12 | chr5 | TogoVar | |||||||
CDH23_chr10_71391920_71820947 | 71403376 | TTTCTTTC others(49): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG03098.hp2 HG03516.hp1 |
a0002a0012a0083 | a0002c0064a0012c0146a0083c0052 | a0002c0064t0012a0012c0146t0009a0083c0052t0021 | a0002c0064t0012g0040 a0012c0146t0009g0042 a0083c0052t0021g0041 |
3 | 196 | 0.0153 | -56 | c.-6+ others(71): Show |
CDH23 | ENSG00000107736.22 | transcript | ENST00000224721.12 | protein_coding | 1/69 | chr10 | TogoVar | |||||||
CDH26_chr20_59953423_60019529 | 59967989 | TTCTTTCT others(49): Show |
T | intron_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0004 | a0002c0004t0024 | a0002c0004t0024g0051 | 1 | 288 | 0.0035 | -56 | c.70- others(69): Show |
CDH26 | ENSG00000124215.17 | transcript | ENST00000348616.9 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDK19_chr6_110604978_110820469 | 110677030 | CCCTATGG others(49): Show |
C | intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0234 | 1 | 300 | 0.0033 | -56 | c.205 others(73): Show |
CDK19 | ENSG00000155111.15 | transcript | ENST00000368911.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CDKL2_chr4_75571496_75635528 | 75626633 | CTCCAGCC others(49): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00639.hp2 HG00738.hp1 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(1): Show | a0001c0001t0001g0057 a0001c0001t0004g0002 a0001c0001t0004g0015 others(38): Show |
42 | 306 | 0.1373 | -56 | c.-29 others(71): Show |
CDKL2 | ENSG00000138769.11 | transcript | ENST00000307465.9 | protein_coding | 1/13 | chr4 | TogoVar | |||||||
CDKN2A_chr9_21962752_21999392 | 21981106 | GTATATAT others(49): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG02027.hp1 HG02056.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 a0001c0001t0001g0123 a0001c0001t0001g0124 others(34): Show |
37 | 404 | 0.0916 | -56 | c.194 others(73): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
CECR2_chr22_17364460_17563151 | 17419514 | GAAGAAGA others(49): Show |
G | intron_variant | MODIFIER | HG01891.hp1 | a0010 | a0010c0023 | a0010c0023t0074 | a0010c0023t0074g0052 | 1 | 324 | 0.0031 | -56 | c.126 others(75): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CELF1_chr11_47460937_47558132 | 47541725 | AGAACGAA others(49): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG01261.hp2 HG01515.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0010 a0001c0001t0001g0120 a0001c0001t0001g0133 others(11): Show |
14 | 340 | 0.0412 | -56 | c.-15 others(77): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 1/14 | chr11 | TogoVar | |||||||
CEMIP2_chr9_71678366_71773513 | 71728246 | TATATGTA others(49): Show |
T | intron_variant | MODIFIER | HG02257.hp2 | a0005 | a0005c0017 | a0005c0017t0001 | a0005c0017t0001g0230 | 1 | 320 | 0.0031 | -56 | c.204 others(75): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 10/23 | chr9 | TogoVar | |||||||
CENPE_chr4_103100811_103203343 | 103112688 | ATATATAA others(49): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00621.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 a0001c0001t0001g0163 a0001c0001t0001g0164 others(15): Show |
18 | 320 | 0.0563 | -56 | c.754 others(75): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 46/48 | chr4 | TogoVar | |||||||
CENPE_chr4_103100811_103203343 | 103112813 | TATATATA others(49): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02723.hp2 others(4): Show |
a0001a0020 | a0001c0001a0020c0028 | a0001c0001t0001a0020c0028t0001 | a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 others(4): Show |
7 | 320 | 0.0219 | -56 | c.754 others(75): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 46/48 | chr4 | TogoVar | |||||||
CENPE_chr4_103100811_103203343 | 103112841 | TATATATA others(49): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG02451.hp2 HG02622.hp2 others(4): Show |
a0001a0004a0010 | a0001c0004a0004c0005a0010c0014 | a0001c0004t0001a0004c0005t0001a0010c0014t0002 | a0001c0004t0001g0078 a0004c0005t0001g0068 a0004c0005t0001g0072 others(4): Show |
7 | 320 | 0.0219 | -56 | c.754 others(75): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 46/48 | chr4 | TogoVar | |||||||
CENPE_chr4_103100811_103203343 | 103112897 | CATATATA others(49): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp2 others(46): Show |
a0001a0019a0022 | a0001c0001a0001c0030a0019c0025others(1): Show | a0001c0001t0001a0001c0030t0001a0019c0025t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(40): Show |
49 | 320 | 0.1531 | -56 | c.754 others(75): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 46/48 | chr4 | TogoVar | |||||||
CENPE_chr4_103100811_103203343 | 103112925 | CATATATA others(49): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00738.hp1 HG01993.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0157 a0001c0001t0001g0165 others(6): Show |
9 | 320 | 0.0281 | -56 | c.754 others(75): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 46/48 | chr4 | TogoVar | |||||||
CENPP_chr9_92320953_92625529 | 92552073 | GATCTATC others(49): Show |
G | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0188 | 1 | 260 | 0.0039 | -56 | c.565 others(75): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CEP120_chr5_123339892_123428403 | 123388013 | CTTTTTGA others(49): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(179): Show |
a0001a0002a0003others(3): Show | a0001c0006a0001c0011a0001c0016others(8): Show | a0001c0006t0001a0001c0006t0002a0001c0006t0003others(18): Show | a0001c0006t0001g0103 a0001c0006t0002g0006 a0001c0006t0002g0204 others(159): Show |
182 | 376 | 0.4840 | -56 | c.143 others(73): Show |
CEP120 | ENSG00000168944.17 | transcript | ENST00000306467.10 | protein_coding | 9/19 | chr5 | TogoVar | |||||||
CEP120_chr5_123339892_123428403 | 123408768 | GAGGCCAG others(49): Show |
G | intron_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0229 | 1 | 376 | 0.0027 | -56 | c.463 others(73): Show |
CEP120 | ENSG00000168944.17 | transcript | ENST00000306467.10 | protein_coding | 4/19 | chr5 | TogoVar | |||||||
CEP192_chr18_12986362_13130036 | 13106477 | TACCACTA others(49): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00544.hp2 others(66): Show |
a0001a0036 | a0001c0002a0001c0034a0001c0036others(2): Show | a0001c0002t0001a0001c0034t0001a0001c0036t0001others(2): Show | a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 others(63): Show |
69 | 392 | 0.1760 | -56 | c.704 others(75): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 40/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CEP43_chr6_166994397_167057718 | 167038960 | TTTCTCTG others(49): Show |
T | intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 376 | 0.0027 | -56 | c.112 others(73): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 12/12 | chr6 | TogoVar | |||||||
CERCAM_chr9_128415857_128442347 | 128437789 | ATATATAC others(49): Show |
A | downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 400 | 0.0025 | -56 | c.*94 others(65): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 443 | chr9 | TogoVar | |||||||
CERS4_chr19_8204370_8267421 | 8234598 | GGCAGGAG others(49): Show |
G | intron_variant | MODIFIER | HG02486.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0118 | 1 | 418 | 0.0024 | -56 | c.-1- others(73): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CFAP221_chr2_119539449_119661661 | 119552753 | CTTTAATA others(49): Show |
C | intron_variant | MODIFIER | HG01346.hp1 HG02922.hp2 HG03453.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0010 a0001c0001t0002g0011 a0002c0002t0001g0221 |
3 | 226 | 0.0133 | -56 | c.240 others(73): Show |
CFAP221 | ENSG00000163075.13 | transcript | ENST00000413369.8 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CFAP43_chr10_104124888_104237364 | 104126016 | AGGCCTCC others(49): Show |
A | downstream_gene_variant | MODIFIER | NA18988.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0076 | 1 | 306 | 0.0033 | -56 | c.*40 others(67): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 3871 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132887791 | TCTCCCCT others(49): Show |
T | intron_variant | MODIFIER | HG01243.hp1 | a0022 | a0022c0078 | a0022c0078t0002 | a0022c0078t0002g0033 | 1 | 246 | 0.0041 | -56 | c.330 others(75): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP54_chr12_96484577_96880555 | 96664758 | TATATATC others(49): Show |
T | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 268 | 0.0037 | -56 | c.556 others(73): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 39/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP58_chr10_104348833_104460102 | 104357876 | TGTACACA others(49): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG03195.hp1 NA18522.hp1 |
a0001a0002 | a0001c0001a0001c0011a0002c0002 | a0001c0001t0001a0001c0011t0001a0002c0002t0001 | a0001c0001t0001g0065 a0001c0011t0001g0262 a0002c0002t0001g0064 |
3 | 308 | 0.0097 | -56 | c.10- others(69): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 1/17 | chr10 | TogoVar | |||||||
CHST8_chr19_33616953_33778506 | 33757470 | GAAAGAAA others(49): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 a0001c0001t0001g0160 |
2 | 254 | 0.0079 | -56 | c.131 others(75): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33757474 | GAAAGAAA others(49): Show |
G | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 254 | 0.0039 | -56 | c.131 others(75): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CIAPIN1_chr16_57423187_57452385 | 57423219 | GAGGGAGG others(49): Show |
G | downstream_gene_variant | MODIFIER | HG02717.hp2 HG02723.hp2 HG03130.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 a0001c0001t0001g0184 a0001c0001t0001g0185 others(1): Show |
5 | 390 | 0.0128 | -56 | c.*58 others(67): Show |
CIAPIN1 | ENSG00000005194.15 | transcript | ENST00000394391.9 | protein_coding | 4967 | chr16 | TogoVar |