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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAMSAP2_chr1_200733893_200865704 | 200816782 | ATATGTGT others(47): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0317 | 1 | 366 | 0.0027 | -54 | c.645 others(71): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMSAP2_chr1_200733893_200865704 | 200816819 | TACACACA others(47): Show |
T | intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0190 | 1 | 366 | 0.0027 | -54 | c.645 others(71): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMSAP2_chr1_200733893_200865704 | 200816909 | CGTGTGTA others(47): Show |
C | intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0305 | 1 | 366 | 0.0027 | -54 | c.645 others(71): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMSAP2_chr1_200733893_200865704 | 200816916 | ATGTGTGT others(47): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02451.hp1 HG02965.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0084 a0001c0001t0005g0085 a0001c0001t0005g0086 others(5): Show |
8 | 366 | 0.0219 | -54 | c.645 others(71): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7310646 | TTTTTCTT others(47): Show |
T | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0015 | a0001c0015t0006 | a0001c0015t0006g0043 | 1 | 58 | 0.0172 | -54 | c.438 others(73): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 531688 | CCCCAGGG others(47): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0005 | a0001c0005t0010 | a0001c0005t0010g0020 | 1 | 410 | 0.0024 | -54 | c.-18 others(73): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CAPZA2_chr7_116857587_116927049 | 116890547 | TATATATA others(47): Show |
T | intron_variant | MODIFIER | HG02723.hp2 HG03130.hp1 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0093 a0001c0002t0005g0099 |
2 | 354 | 0.0057 | -54 | c.103 others(71): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAPZA2_chr7_116857587_116927049 | 116890557 | TATATATA others(47): Show |
T | intron_variant | MODIFIER | HG01496.hp1 HG01891.hp1 HG02451.hp1 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004a0001c0002t0016 | a0001c0002t0003g0293 a0001c0002t0003g0294 a0001c0002t0003g0295 others(10): Show |
13 | 354 | 0.0367 | -54 | c.103 others(71): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116555504 | GAAAGAAA others(47): Show |
G | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0261 | 1 | 342 | 0.0029 | -54 | c.196 others(71): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116555508 | GAAAGAAA others(47): Show |
G | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0302 | 1 | 342 | 0.0029 | -54 | c.196 others(71): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88967162 | ACCCCCCA others(47): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG01069.hp2 HG01071.hp2 others(28): Show |
a0001a0011a0013others(1): Show | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0025others(7): Show | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0038 others(28): Show |
31 | 284 | 0.1092 | -54 | c.151 others(71): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88967207 | GCCATGCC others(47): Show |
G | intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 284 | 0.0035 | -54 | c.151 others(71): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CC2D2B_chr10_95902975_96038745 | 95993920 | GTGTGTGT others(47): Show |
G | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 312 | 0.0032 | -54 | c.264 others(73): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 22/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CC2D2B_chr10_95902975_96038745 | 95993924 | GTGTGTGT others(47): Show |
G | intron_variant | MODIFIER | HG02451.hp2 | a0013 | a0013c0013 | a0013c0013t0003 | a0013c0013t0003g0143 | 1 | 312 | 0.0032 | -54 | c.264 others(73): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 22/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CCDC138_chr2_108781771_108881578 | 108853976 | AATATATA others(47): Show |
A | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0108 | 1 | 220 | 0.0046 | -54 | c.151 others(73): Show |
CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CCDC146_chr7_77117615_77300204 | 77180085 | ATACCATA others(47): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01123.hp2 others(41): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0004a0001c0007others(10): Show | a0001c0001t0002a0001c0004t0003a0001c0007t0001others(11): Show | a0001c0001t0002g0028 a0001c0001t0002g0033 a0001c0004t0003g0017 others(41): Show |
44 | 248 | 0.1774 | -54 | c.156 others(73): Show |
CCDC146 | ENSG00000135205.15 | transcript | ENST00000285871.5 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CCDC146_chr7_77117615_77300204 | 77241020 | TGAGATGG others(47): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01192.hp2 HG01243.hp1 others(9): Show |
a0001a0003a0004others(1): Show | a0001c0007a0001c0015a0003c0003others(4): Show | a0001c0007t0001a0001c0015t0001a0001c0015t0002others(5): Show | a0001c0007t0001g0155 a0001c0007t0001g0164 a0001c0015t0001g0041 others(9): Show |
12 | 248 | 0.0484 | -54 | c.240 others(69): Show |
CCDC146 | ENSG00000135205.15 | transcript | ENST00000285871.5 | protein_coding | 3/18 | chr7 | TogoVar | |||||||
CCDC188_chr22_20143416_20156055 | 20145105 | GCCCCACA others(47): Show |
G | downstream_gene_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0051 | 1 | 408 | 0.0025 | -54 | c.*34 others(65): Show |
CCDC188 | ENSG00000234409.7 | transcript | ENST00000439765.4 | protein_coding | 3310 | chr22 | TogoVar | |||||||
CCDC38_chr12_95862048_95947614 | 95908630 | AGAGGGAG others(47): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0128 | 1 | 350 | 0.0029 | -54 | c.305 others(71): Show |
CCDC38 | ENSG00000165972.13 | transcript | ENST00000344280.8 | protein_coding | 4/15 | chr12 | TogoVar | |||||||
CCDC57_chr17_82096470_82217842 | 82150017 | CCAGAACC others(47): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG01361.hp1 HG01496.hp2 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0001 a0002c0003t0002g0035 a0002c0003t0002g0037 others(2): Show |
6 | 252 | 0.0238 | -54 | c.245 others(73): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 15/18 | chr17 | TogoVar | |||||||
CCDC57_chr17_82096470_82217842 | 82150874 | TGCACACC others(47): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00558.hp1 others(118): Show |
a0001a0004a0005others(8): Show | a0001c0001a0001c0023a0001c0027others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0023t0001others(12): Show | a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 others(118): Show |
121 | 252 | 0.4802 | -54 | c.245 others(71): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 15/18 | chr17 | TogoVar | |||||||
CCDC73_chr11_32597721_32799662 | 32755695 | GTATATAT others(47): Show |
G | intron_variant | MODIFIER | HG00609.hp1 HG01070.hp2 HG02040.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0013 others(8): Show |
11 | 312 | 0.0353 | -54 | c.135 others(71): Show |
CCDC73 | ENSG00000186714.13 | transcript | ENST00000335185.10 | protein_coding | 2/17 | chr11 | TogoVar | |||||||
CCDC88A_chr2_55282842_55424856 | 55384551 | GTATATAT others(47): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG02630.hp1 HG02970.hp2 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0015a0001c0006t0022 | a0001c0001t0015g0196 a0001c0001t0015g0197 a0001c0001t0015g0199 others(1): Show |
4 | 316 | 0.0127 | -54 | c.273 others(71): Show |
CCDC88A | ENSG00000115355.18 | transcript | ENST00000436346.7 | protein_coding | 3/32 | chr2 | TogoVar | |||||||
CCNB1_chr5_69162150_69183245 | 69175268 | TTAGGACT others(47): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01081.hp2 HG01261.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 a0001c0001t0001g0131 a0001c0001t0001g0132 others(1): Show |
4 | 420 | 0.0095 | -54 | c.943 others(68): Show |
CCNB1 | ENSG00000134057.15 | transcript | ENST00000256442.10 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CCNY_chr10_35331509_35577667 | 35444136 | GCTTTAGA others(47): Show |
G | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0282 | 1 | 296 | 0.0034 | -54 | c.155 others(73): Show |
CCNY | ENSG00000108100.18 | transcript | ENST00000374704.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CCSER1_chr4_90122394_91610295 | 90932990 | AAGAAAGA others(47): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0012 a0001c0001t0004g0022 |
2 | 38 | 0.0526 | -54 | c.217 others(73): Show |
CCSER1 | ENSG00000184305.16 | transcript | ENST00000509176.6 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CD163L1_chr12_7349960_7449153 | 7421291 | GTGTATAT others(47): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp1 HG02040.hp1 others(19): Show |
a0001a0016a0017 | a0001c0001a0016c0019a0017c0044 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0012 others(15): Show |
22 | 384 | 0.0573 | -54 | c.766 others(73): Show |
CD163L1 | ENSG00000177675.9 | transcript | ENST00000313599.8 | protein_coding | 4/19 | chr12 | TogoVar | |||||||
CD247_chr1_167425640_167523529 | 167506235 | CTTTTCTT others(47): Show |
C | intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0320 | 1 | 374 | 0.0027 | -54 | c.58+ others(71): Show |
CD247 | ENSG00000198821.12 | transcript | ENST00000362089.10 | protein_coding | 1/7 | chr1 | TogoVar | |||||||
CD38_chr4_15773328_15858232 | 15790118 | TCTCCCTC others(47): Show |
T | intron_variant | MODIFIER | HG02970.hp1 HG02976.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0060a0001c0001t0061others(1): Show | a0001c0001t0017g0053 a0001c0001t0060g0047 a0001c0001t0061g0046 others(1): Show |
4 | 344 | 0.0116 | -54 | c.233 others(73): Show |
CD38 | ENSG00000004468.13 | transcript | ENST00000226279.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CDCP1_chr3_45077277_45151378 | 45108877 | ATGCATGT others(47): Show |
A | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0346 | 1 | 384 | 0.0026 | -54 | c.102 others(73): Show |
CDCP1 | ENSG00000163814.8 | transcript | ENST00000296129.6 | protein_coding | 4/8 | chr3 | TogoVar | |||||||
CDCP1_chr3_45077277_45151378 | 45121259 | TGGTCTTC others(47): Show |
T | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0256 | 1 | 384 | 0.0026 | -54 | c.83- others(69): Show |
CDCP1 | ENSG00000163814.8 | transcript | ENST00000296129.6 | protein_coding | 1/8 | chr3 | TogoVar | |||||||
CDH15_chr16_89166748_89200492 | 89193055 | TCCGCCTC others(47): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0003 | a0003c0030 | a0003c0030t0001 | a0003c0030t0001g0054 | 1 | 406 | 0.0025 | -54 | c.185 others(71): Show |
CDH15 | ENSG00000129910.8 | transcript | ENST00000289746.3 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH18_chr5_19466296_19993200 | 19541278 | GGTTCCAA others(47): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02572.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019a0001c0001t0020 | a0001c0001t0001g0026 a0001c0001t0019g0039 a0001c0001t0020g0041 |
3 | 138 | 0.0217 | -54 | c.139 others(73): Show |
CDH18 | ENSG00000145526.12 | transcript | ENST00000382275.6 | protein_coding | 9/12 | chr5 | TogoVar | |||||||
CDH19_chr18_66496083_66609090 | 66505526 | AATATAGT others(47): Show |
A | intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0293 | 1 | 354 | 0.0028 | -54 | c.182 others(71): Show |
CDH19 | ENSG00000071991.9 | transcript | ENST00000262150.7 | protein_coding | 11/11 | chr18 | TogoVar | |||||||
CDH26_chr20_59953423_60019529 | 59953947 | TATATATA others(47): Show |
T | upstream_gene_variant | MODIFIER | HG03540.hp1 | a0008 | a0008c0008 | a0008c0008t0019 | a0008c0008t0019g0205 | 1 | 288 | 0.0035 | -54 | c.-47 others(65): Show |
CDH26 | ENSG00000124215.17 | transcript | ENST00000348616.9 | protein_coding | 4475 | chr20 | TogoVar | |||||||
CDK10_chr16_89681689_89701354 | 89686256 | ACCCCCCC others(47): Show |
A | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01516.hp2 HG02257.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0062 others(3): Show |
12 | 422 | 0.0284 | -54 | c.-45 others(63): Show |
CDK10 | ENSG00000185324.22 | transcript | ENST00000353379.12 | protein_coding | 432 | chr16 | TogoVar | |||||||
CEACAM20_chr19_44501159_44534675 | 44532511 | GAAAGAGA others(47): Show |
G | upstream_gene_variant | MODIFIER | NA18973.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0311 | 1 | 438 | 0.0023 | -54 | c.-30 others(65): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 2837 | chr19 | TogoVar | |||||||
CELA1_chr12_51323442_51351679 | 51329543 | AAGGAAGG others(47): Show |
A | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0071 | 1 | 406 | 0.0025 | -54 | c.759 others(68): Show |
CELA1 | ENSG00000139610.2 | transcript | ENST00000293636.2 | protein_coding | 7/7 | chr12 | TogoVar | |||||||
CERCAM_chr9_128415857_128442347 | 128437393 | ATGTATGT others(47): Show |
A | downstream_gene_variant | MODIFIER | HG01891.hp1 | a0003 | a0003c0008 | a0003c0008t0002 | a0003c0008t0002g0048 | 1 | 400 | 0.0025 | -54 | c.*54 others(63): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 47 | chr9 | TogoVar | |||||||
CERCAM_chr9_128415857_128442347 | 128437801 | ATATATAC others(47): Show |
A | downstream_gene_variant | MODIFIER | HG03710.hp2 HG03927.hp2 |
a0001a0009 | a0001c0001a0009c0028 | a0001c0001t0001a0009c0028t0001 | a0001c0001t0001g0033 a0009c0028t0001g0033 |
2 | 400 | 0.0050 | -54 | c.*95 others(64): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 455 | chr9 | TogoVar | |||||||
CERCAM_chr9_128415857_128442347 | 128437814 | TACGTGTA others(47): Show |
T | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG00738.hp2 others(19): Show |
a0001a0012 | a0001c0001a0012c0020 | a0001c0001t0001a0012c0020t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(14): Show |
22 | 400 | 0.0550 | -54 | c.*96 others(64): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 468 | chr9 | TogoVar | |||||||
CERCAM_chr9_128415857_128442347 | 128437864 | CATACACG others(47): Show |
C | downstream_gene_variant | MODIFIER | HG02486.hp1 HG02886.hp1 HG02886.hp2 others(4): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0051 a0001c0003t0001g0044 a0001c0003t0001g0197 others(3): Show |
7 | 400 | 0.0175 | -54 | c.*10 others(65): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 518 | chr9 | TogoVar | |||||||
CERS4_chr19_8204370_8267421 | 8249150 | GGATGGGT others(47): Show |
G | intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0012 | 1 | 418 | 0.0024 | -54 | c.-1- others(69): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 36027088 | ATATATAT others(47): Show |
A | intron_variant | MODIFIER | NA18982.hp1 NA19056.hp1 |
a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0086 a0001c0019t0001g0124 |
2 | 216 | 0.0093 | -54 | c.355 others(73): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 22/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96826999 | ATGATTAA others(47): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0016 | a0016c0014 | a0016c0014t0001 | a0016c0014t0001g0162 | 1 | 268 | 0.0037 | -54 | c.909 others(73): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 65/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96827041 | ATGCAATT others(47): Show |
A | intron_variant | MODIFIER | NA18944.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0134 | 1 | 268 | 0.0037 | -54 | c.909 others(73): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 65/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96827154 | ATTATATG others(47): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02280.hp1 others(2): Show |
a0001a0015a0022others(1): Show | a0001c0001a0015c0030a0022c0025others(1): Show | a0001c0001t0001a0015c0030t0003a0022c0025t0001others(1): Show | a0001c0001t0001g0025 a0015c0030t0003g0192 a0022c0025t0001g0002 others(2): Show |
5 | 268 | 0.0187 | -54 | c.909 others(73): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 65/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96827228 | ATGTGCAG others(47): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG01168.hp1 HG01496.hp2 others(10): Show |
a0001a0002a0006others(4): Show | a0001c0001a0002c0007a0006c0049others(4): Show | a0001c0001t0001a0002c0007t0001a0006c0049t0001others(4): Show | a0001c0001t0001g0078 a0002c0007t0001g0124 a0002c0007t0001g0135 others(10): Show |
13 | 268 | 0.0485 | -54 | c.909 others(73): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 65/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96827559 | GTTATATG others(47): Show |
G | intron_variant | MODIFIER | HG00558.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0137 | 1 | 268 | 0.0037 | -54 | c.909 others(73): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 65/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP58_chr10_104348833_104460102 | 104357899 | GTACACAT others(47): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG02922.hp2 HG03098.hp1 others(1): Show |
a0001a0003a0013 | a0001c0007a0003c0005a0013c0020 | a0001c0007t0001a0003c0005t0001a0013c0020t0001 | a0001c0007t0001g0240 a0003c0005t0001g0238 a0003c0005t0001g0239 others(1): Show |
4 | 308 | 0.0130 | -54 | c.10- others(67): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |