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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDH20_chr18_61328430_61560779 | 61500102 | TAAAAAAA others(20): Show |
T | intron_variant | MODIFIER | NA18747.hp1 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0103a0001c0001t0007g0160 | 2 | 280 | 0.0071 | -27 | c.542 others(42): Show |
CDH20 | ENSG00000101542.10 | transcript | ENST00000262717.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CDH22_chr20_46168739_46313498 | 46226231 | CCTTCTTC others(20): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG02896.hp1 HG02897.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0245a0001c0001t0002g0128a0001c0001t0002g0202others(3): Show | 6 | 318 | 0.0189 | -27 | c.670 others(44): Show |
CDH22 | ENSG00000149654.11 | transcript | ENST00000537909.4 | protein_coding | 4/11 | chr20 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61265121 | TGGCTCCT others(20): Show |
T | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0031 | 1 | 106 | 0.0094 | -27 | c.169 others(46): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | chr20 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61383114 | AGAATATA others(20): Show |
A | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0003 | a0001c0003t0032 | a0001c0003t0032g0040 | 1 | 106 | 0.0094 | -27 | c.169 others(48): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61671105 | GATGATGA others(20): Show |
G | intron_variant | MODIFIER | HG02559.hp2 HG02630.hp1 HG02723.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0048a0001c0001t0051others(4): Show | a0001c0001t0001g0032a0001c0001t0048g0085a0001c0001t0051g0083others(4): Show | 7 | 106 | 0.0660 | -27 | c.170 others(46): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61754597 | AACACCAC others(20): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01255.hp1 HG02451.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0005others(4): Show | a0001c0001t0001g0032a0001c0003t0001g0020a0001c0003t0005g0054others(4): Show | 7 | 106 | 0.0660 | -27 | c.396 others(46): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61920596 | CGTGGTGT others(20): Show |
C | intron_variant | MODIFIER | HG01358.hp2 HG01433.hp1 |
a0001 | a0001c0011 | a0001c0011t0008 | a0001c0011t0008g0003a0001c0011t0008g0101 | 2 | 106 | 0.0189 | -27 | c.137 others(46): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDH4_chr20_61247261_61945617 | 61936354 | CTTCCCCA others(20): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01081.hp2 HG01099.hp2 others(10): Show |
a0001a0002 | a0001c0011a0001c0021a0001c0022others(3): Show | a0001c0011t0008a0001c0021t0008a0001c0022t0042others(8): Show | a0001c0011t0008g0003a0001c0011t0008g0101a0001c0021t0008g0047others(10): Show | 13 | 106 | 0.1226 | -27 | c.254 others(44): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 15/15 | chr20 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61944149 | CACCGTGG others(20): Show |
C | downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0019 | 1 | 106 | 0.0094 | -27 | c.*72 others(38): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 3533 | chr20 | TogoVar | ||||||
CDH5_chr16_66361691_66409784 | 66379842 | AGGTGGTG others(20): Show |
A | intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 404 | 0.0025 | -27 | c.210 others(42): Show |
CDH5 | ENSG00000179776.20 | transcript | ENST00000341529.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CDH9_chr5_26875597_27043586 | 27002398 | GACCCAGC others(20): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG03453.hp2 |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0004t0001 | a0002c0002t0001g0130a0002c0002t0001g0131a0002c0004t0001g0132 | 3 | 240 | 0.0125 | -27 | c.-49 others(46): Show |
CDH9 | ENSG00000113100.10 | transcript | ENST00000231021.9 | protein_coding | 1/11 | chr5 | TogoVar | ||||||
CDHR3_chr7_105958264_106041432 | 105982027 | GGCTGGCA others(20): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00642.hp1 others(55): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0020others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(16): Show | a0001c0001t0001g0052a0001c0001t0001g0063a0001c0001t0001g0071others(55): Show | 58 | 358 | 0.1620 | -27 | c.415 others(42): Show |
CDHR3 | ENSG00000128536.16 | transcript | ENST00000317716.14 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDHR3_chr7_105958264_106041432 | 106038178 | TATATATA others(20): Show |
T | downstream_gene_variant | MODIFIER | HG00733.hp1 HG01167.hp1 HG01169.hp2 others(10): Show |
a0003a0010a0016 | a0003c0006a0003c0008a0003c0028others(2): Show | a0003c0006t0003a0003c0008t0003a0003c0028t0003others(2): Show | a0003c0006t0003g0015a0003c0006t0003g0016a0003c0006t0003g0027others(10): Show | 13 | 358 | 0.0363 | -27 | c.*54 others(38): Show |
CDHR3 | ENSG00000128536.16 | transcript | ENST00000317716.14 | protein_coding | 1747 | chr7 | TogoVar | ||||||
CDK14_chr7_90591321_91215590 | 90665816 | AGTAATTA others(20): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00621.hp1 others(57): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0029a0001c0001t0001g0050a0001c0001t0001g0053others(57): Show | 60 | 168 | 0.3571 | -27 | c.124 others(46): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDK14_chr7_90591321_91215590 | 90874503 | CTTTTTTT others(20): Show |
C | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0040 | 1 | 168 | 0.0060 | -27 | c.639 others(46): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CDKAL1_chr6_20529457_21237404 | 21091857 | CTTTTTTT others(20): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00621.hp1 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(13): Show | a0001c0001t0001g0070a0001c0001t0001g0126a0001c0001t0001g0176others(18): Show | 21 | 196 | 0.1071 | -27 | c.123 others(48): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKL1_chr14_50321265_50401881 | 50327103 | AGATCATT others(20): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00423.hp1 HG01934.hp2 HG01993.hp2 others(21): Show |
a0002 | a0002c0002a0002c0008 | a0002c0002t0005a0002c0002t0009a0002c0002t0027others(7): Show | a0002c0002t0005g0023a0002c0002t0005g0025a0002c0002t0005g0039others(21): Show | 24 | 306 | 0.0784 | -27 | c.*29 others(38): Show |
CDKL1 | ENSG00000100490.10 | transcript | ENST00000395834.6 | protein_coding | 10/10 | 2944 | chr14 | TogoVar | |||||
CDKL4_chr2_39170646_39248970 | 39220997 | TTTTGTTT others(20): Show |
T | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0014 | 1 | 290 | 0.0035 | -27 | c.290 others(44): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 3/9 | chr2 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 126005304 | AAAAAAAA others(20): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(150): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0004a0001c0009others(38): Show | a0001c0001t0001a0001c0001t0013a0001c0004t0003others(89): Show | a0001c0001t0001g0080a0001c0001t0013g0076a0001c0004t0003g0048others(147): Show | 153 | 334 | 0.4581 | -27 | c.185 others(44): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 9/19 | chr11 | TogoVar | ||||||
CDYL2_chr16_80592907_80809598 | 80649907 | TCCATATT others(20): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG03139.hp2 others(1): Show |
a0001 | a0001c0001a0001c0007a0001c0013 | a0001c0001t0067a0001c0001t0068a0001c0007t0025others(1): Show | a0001c0001t0067g0254a0001c0001t0068g0255a0001c0007t0025g0004others(1): Show | 4 | 258 | 0.0155 | -27 | c.617 others(46): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
CEACAM5_chr19_41703626_41735433 | 41711882 | CCAGGCAA others(20): Show |
C | intron_variant | MODIFIER | HG03453.hp1 | a0008 | a0008c0008 | a0008c0008t0004 | a0008c0008t0004g0112 | 1 | 374 | 0.0027 | -27 | c.424 others(44): Show |
CEACAM5 | ENSG00000105388.17 | transcript | ENST00000221992.11 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CEACAM6_chr19_41750530_41777211 | 41770398 | AGGCCTAT others(20): Show |
A | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0173 | 1 | 426 | 0.0024 | -27 | c.*41 others(42): Show |
CEACAM6 | ENSG00000086548.9 | transcript | ENST00000199764.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CEBPZOS_chr2_37191496_37209743 | 37194886 | TTCCTTCC others(20): Show |
T | upstream_gene_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0006 | 1 | 466 | 0.0022 | -27 | c.-16 others(38): Show |
CEBPZOS | ENSG00000218739.10 | transcript | ENST00000402297.6 | protein_coding | 1609 | chr2 | TogoVar | ||||||
CELA2A_chr1_15451732_15477091 | 15458908 | TAAAAAAA others(20): Show |
T | intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 430 | 0.0023 | -27 | c.129 others(44): Show |
CELA2A | ENSG00000142615.8 | transcript | ENST00000359621.5 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CELF4_chr18_37238040_37570798 | 37393046 | CAGACACA others(20): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(105): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0069a0001c0001t0001g0071a0001c0001t0001g0080others(105): Show | 108 | 184 | 0.5870 | -27 | c.370 others(46): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
CELF5_chr19_3219661_3302076 | 3299509 | CTCCTCCT others(20): Show |
C | downstream_gene_variant | MODIFIER | HG02486.hp1 HG02622.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0001 | a0001c0001t0006g0250a0001c0002t0001g0034 | 2 | 262 | 0.0076 | -27 | c.*27 others(38): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 2434 | chr19 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46363187 | CCTGATGG others(20): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02615.hp2 HG02630.hp2 HG02647.hp1 others(3): Show |
a0002a0026a0047others(1): Show | a0002c0012a0002c0016a0002c0051others(3): Show | a0002c0012t0003a0002c0016t0003a0002c0051t0003others(3): Show | a0002c0012t0003g0012a0002c0016t0003g0025a0002c0051t0003g0053others(3): Show | 6 | 104 | 0.0577 | -27 | c.*9_ others(33): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 35/35 | 9 | chr22 | TogoVar | |||||
CEMIP_chr15_80774370_80956771 | 80848953 | ATTTTTTT others(20): Show |
A | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 254 | 0.0039 | -27 | c.-17 others(48): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CEMIP_chr15_80774370_80956771 | 80942080 | CCCCTTTG others(20): Show |
C | intron_variant | MODIFIER | NA18939.hp1 NA18974.hp1 NA18977.hp1 |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0002a0001c0002t0002a0002c0004t0001 | a0001c0001t0002g0181a0001c0002t0002g0222a0002c0004t0001g0195 | 3 | 254 | 0.0118 | -27 | c.361 others(42): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CENPM_chr22_41933737_41952152 | 41935361 | ACACCGCC others(20): Show |
A | downstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 258 | 0.0039 | -27 | c.*36 others(38): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 3375 | chr22 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939479 | ACTGTCTA others(20): Show |
A | intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 258 | 0.0039 | -27 | c.403 others(42): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92357461 | CATTATTA others(20): Show |
C | intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 260 | 0.0039 | -27 | c.467 others(46): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CEP72_chr5_607340_658553 | 645420 | AACCGTGT others(20): Show |
A | intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 91 | 0.0110 | -27 | c.166 others(45): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 10/11 | chr5 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 649383 | TGACTGTG others(20): Show |
T | intron_variant | MODIFIER | HG02451.hp2 NA20129.hp2 |
a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0014a0003c0005t0002g0019 | 2 | 91 | 0.0220 | -27 | c.177 others(46): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CEP72_chr5_607340_658553 | 650814 | TGACTGTG others(20): Show |
T | intron_variant | MODIFIER | NA20129.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0019 | 1 | 91 | 0.0110 | -27 | c.177 others(46): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CERKL_chr2_181531672_181662105 | 181563584 | CCATAGCA others(20): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(148): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0010others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(27): Show | a0001c0001t0001g0150a0001c0001t0001g0158a0001c0001t0001g0159others(146): Show | 151 | 298 | 0.5067 | -27 | c.677 others(44): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 4/12 | chr2 | TogoVar | ||||||
CFAP161_chr15_81129270_81154179 | 81133200 | TATATATA others(20): Show |
T | upstream_gene_variant | MODIFIER | HG00423.hp1 HG01070.hp2 HG01071.hp2 others(37): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0031a0001c0001t0001g0032others(24): Show | 40 | 448 | 0.0893 | -27 | c.-11 others(38): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 1069 | chr15 | TogoVar | ||||||
CFAP43_chr10_104124888_104237364 | 104125087 | GCCACCAT others(20): Show |
G | downstream_gene_variant | MODIFIER | NA18988.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0076 | 1 | 306 | 0.0033 | -27 | c.*50 others(38): Show |
CFAP43 | ENSG00000197748.13 | transcript | ENST00000357060.8 | protein_coding | 4800 | chr10 | TogoVar | ||||||
CFAP44_chr3_113281930_113446493 | 113320528 | TTATATAT others(20): Show |
T | intron_variant | MODIFIER | NA19085.hp1 | a0004 | a0004c0004 | a0004c0004t0012 | a0004c0004t0012g0294 | 1 | 348 | 0.0029 | -27 | c.451 others(46): Show |
CFAP44 | ENSG00000206530.11 | transcript | ENST00000393845.9 | protein_coding | 28/34 | chr3 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9636192 | AAAGAAAG others(20): Show |
A | intron_variant | MODIFIER | NA18978.hp2 NA19012.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0289a0001c0002t0001g0304 | 2 | 316 | 0.0063 | -27 | c.147 others(44): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96772630 | TTGCCCAG others(20): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02258.hp1 others(18): Show |
a0002a0003a0004others(5): Show | a0002c0003a0003c0073a0004c0011others(7): Show | a0002c0003t0001a0002c0003t0002a0003c0073t0001others(8): Show | a0002c0003t0001g0168a0002c0003t0001g0169a0002c0003t0001g0170others(18): Show | 21 | 268 | 0.0784 | -27 | c.828 others(46): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 60/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96826943 | GTATGATT others(20): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02486.hp2 others(12): Show |
a0002a0003a0004others(6): Show | a0002c0003a0003c0073a0004c0082others(6): Show | a0002c0003t0001a0002c0003t0002a0003c0073t0001others(7): Show | a0002c0003t0001g0168a0002c0003t0001g0169a0002c0003t0001g0170others(12): Show | 15 | 268 | 0.0560 | -27 | c.909 others(46): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 65/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96826999 | ATGATTAA others(20): Show |
A | intron_variant | MODIFIER | NA19074.hp2 | a0042 | a0042c0092 | a0042c0092t0001 | a0042c0092t0001g0160 | 1 | 268 | 0.0037 | -27 | c.909 others(46): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 65/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96827007 | TTATAATA others(20): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0032 | a0032c0070 | a0032c0070t0001 | a0032c0070t0001g0244 | 1 | 268 | 0.0037 | -27 | c.909 others(46): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 65/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96827068 | ATGCAATT others(20): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG01099.hp1 others(4): Show |
a0002a0009a0010others(3): Show | a0002c0007a0009c0008a0010c0013others(3): Show | a0002c0007t0001a0009c0008t0001a0010c0013t0001others(3): Show | a0002c0007t0001g0124a0002c0007t0001g0149a0009c0008t0001g0202others(4): Show | 7 | 268 | 0.0261 | -27 | c.909 others(46): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 65/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96827228 | ATGTGCAG others(20): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00621.hp1 others(15): Show |
a0002a0009a0013others(6): Show | a0002c0007a0002c0032a0009c0008others(8): Show | a0002c0007t0001a0002c0032t0001a0009c0008t0001others(8): Show | a0002c0007t0001g0125a0002c0007t0001g0149a0002c0007t0001g0152others(15): Show | 18 | 268 | 0.0672 | -27 | c.909 others(46): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 65/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96827586 | GTTATATG others(20): Show |
G | intron_variant | MODIFIER | NA19087.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0136 | 1 | 268 | 0.0037 | -27 | c.909 others(46): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 65/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96827606 | GTGTGCAA others(20): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02895.hp1 HG02896.hp1 others(6): Show |
a0004a0023a0039others(1): Show | a0004c0011a0004c0081a0023c0026others(2): Show | a0004c0011t0001a0004c0081t0001a0023c0026t0001others(2): Show | a0004c0011t0001g0117a0004c0011t0001g0118a0004c0011t0001g0119others(6): Show | 9 | 268 | 0.0336 | -27 | c.909 others(46): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 65/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP58_chr10_104348833_104460102 | 104396412 | GAGAGAGA others(20): Show |
G | intron_variant | MODIFIER | HG02602.hp1 NA19003.hp1 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0002a0002c0002t0001 | a0001c0003t0002g0292a0002c0002t0001g0049 | 2 | 308 | 0.0065 | -27 | c.167 others(46): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CFAP65_chr2_218997846_219046516 | 219021144 | CTAGGTAC others(20): Show |
C | frameshift_variant others(3): Show |
HIGH | NA19082.hp1 | a0023 | a0023c0027 | a0023c0027t0001 | a0023c0027t0001g0227 | 1 | 322 | 0.0031 | -27 | c.324 others(38): Show |
p.Tyr others(6): Show |
CFAP65 | ENSG00000181378.14 | transcript | ENST00000341552.10 | protein_coding | 19/35 | 3240/5778 | 1080/1925 | chr2 | TogoVar |