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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CCDC7_chr10_32441140_32887864 | 32505289 | ACGTGAAC others(38): Show |
A | intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 366 | 0.0027 | -45 | c.873 others(64): Show |
CCDC7 | ENSG00000216937.14 | transcript | ENST00000639629.2 | protein_coding | 10/43 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CCRL2_chr3_46402259_46414523 | 46405847 | CTTCCTCT others(38): Show |
C | upstream_gene_variant | MODIFIER | HG03041.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0001 | 1 | 414 | 0.0024 | -45 | c.-16 others(56): Show |
CCRL2 | ENSG00000121797.10 | transcript | ENST00000399036.4 | protein_coding | 1411 | chr3 | TogoVar | |||||||
CCSER1_chr4_90122394_91610295 | 90412924 | AAGAAATA others(38): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0017 | 1 | 38 | 0.0263 | -45 | c.160 others(66): Show |
CCSER1 | ENSG00000184305.16 | transcript | ENST00000509176.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CCSER1_chr4_90122394_91610295 | 90863949 | TTTTTATT others(38): Show |
T | intron_variant | MODIFIER | HG01243.hp1 | a0005 | a0005c0007 | a0005c0007t0012 | a0005c0007t0012g0010 | 1 | 18 | 0.0556 | -45 | c.209 others(66): Show |
CCSER1 | ENSG00000184305.16 | transcript | ENST00000509176.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CD200_chr3_112328156_112367812 | 112342313 | CTTTCTTT others(38): Show |
C | intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 172 | 0.0058 | -45 | c.94+ others(60): Show |
CD200 | ENSG00000091972.18 | transcript | ENST00000315711.12 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CD3G_chr11_118339344_118360161 | 118355473 | ATATATGT others(38): Show |
A | downstream_gene_variant | MODIFIER | HG02451.hp2 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0017 | a0001c0001t0006g0051 a0001c0001t0017g0052 |
2 | 439 | 0.0046 | -45 | c.*23 others(56): Show |
CD3G | ENSG00000160654.11 | transcript | ENST00000532917.3 | protein_coding | 313 | chr11 | TogoVar | |||||||
CD48_chr1_160673746_160716822 | 160678014 | AGGTTTGG others(38): Show |
A | downstream_gene_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 | 1 | 440 | 0.0023 | -45 | c.*99 others(55): Show |
CD48 | ENSG00000117091.10 | transcript | ENST00000368046.8 | protein_coding | 731 | chr1 | TogoVar | |||||||
CD81_chr11_2372310_2402397 | 2386968 | GCCCCTTC others(38): Show |
G | intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 386 | 0.0026 | -45 | c.67- others(60): Show |
CD81 | ENSG00000110651.13 | transcript | ENST00000263645.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CD83_chr6_14112772_14141906 | 14129389 | GCTTCAGT others(38): Show |
G | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0122 | 1 | 436 | 0.0023 | -45 | c.154 others(62): Show |
CD83 | ENSG00000112149.10 | transcript | ENST00000379153.4 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
CDC42_chr1_22047709_22106360 | 22054907 | ATATATAT others(38): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0238 | 1 | 321 | 0.0031 | -45 | c.-51 others(62): Show |
CDC42 | ENSG00000070831.18 | transcript | ENST00000656825.1 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CDC42_chr1_22047709_22106360 | 22054909 | ATATATAT others(38): Show |
A | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0052 | 1 | 329 | 0.0030 | -45 | c.-51 others(62): Show |
CDC42 | ENSG00000070831.18 | transcript | ENST00000656825.1 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CDH12_chr5_21745673_22858344 | 22653992 | TCCTTCCT others(38): Show |
T | intron_variant | MODIFIER | HG01358.hp1 HG02559.hp1 HG03130.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0015a0001c0001t0018a0001c0002t0007others(3): Show | a0001c0001t0015g0055 a0001c0001t0018g0025 a0001c0002t0007g0036 others(4): Show |
7 | 60 | 0.1167 | -45 | c.-52 others(68): Show |
CDH12 | ENSG00000154162.15 | transcript | ENST00000382254.6 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
CDH15_chr16_89166748_89200492 | 89182126 | GCCCTCCC others(38): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(85): Show |
a0002a0003a0012others(1): Show | a0002c0002a0002c0004a0002c0012others(7): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(10): Show | a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0012 others(58): Show |
88 | 356 | 0.2472 | -45 | c.358 others(62): Show |
CDH15 | ENSG00000129910.8 | transcript | ENST00000289746.3 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH15_chr16_89166748_89200492 | 89182141 | CCCCTCCC others(38): Show |
C | intron_variant | MODIFIER | HG02683.hp2 NA19083.hp2 |
a0001a0002 | a0001c0007a0002c0002 | a0001c0007t0003a0002c0002t0001 | a0001c0007t0003g0079 a0002c0002t0001g0147 |
2 | 354 | 0.0056 | -45 | c.358 others(62): Show |
CDH15 | ENSG00000129910.8 | transcript | ENST00000289746.3 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61375621 | ATGGTTTG others(38): Show |
A | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0019 | 1 | 106 | 0.0094 | -45 | c.169 others(66): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDH5_chr16_66361691_66409784 | 66379883 | ATGGTGGT others(38): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00621.hp1 others(34): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0020a0001c0002t0002others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0018 others(30): Show |
37 | 384 | 0.0964 | -45 | c.210 others(60): Show |
CDH5 | ENSG00000179776.20 | transcript | ENST00000341529.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH5_chr16_66361691_66409784 | 66380063 | TTGGTGGT others(38): Show |
T | intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0365 | 1 | 250 | 0.0040 | -45 | c.210 others(60): Show |
CDH5 | ENSG00000179776.20 | transcript | ENST00000341529.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH5_chr16_66361691_66409784 | 66380121 | TGGTGATG others(38): Show |
T | intron_variant | MODIFIER | HG03239.hp2 HG03834.hp2 NA19064.hp1 |
a0001a0003 | a0001c0002a0003c0006 | a0001c0002t0001a0003c0006t0001 | a0001c0002t0001g0218 a0001c0002t0001g0282 a0003c0006t0001g0287 |
3 | 389 | 0.0077 | -45 | c.210 others(60): Show |
CDH5 | ENSG00000179776.20 | transcript | ENST00000341529.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH5_chr16_66361691_66409784 | 66380166 | CGGTGATG others(38): Show |
C | intron_variant | MODIFIER | HG02602.hp1 NA19030.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0002 | a0001c0001t0001g0109 a0001c0005t0002g0353 |
2 | 313 | 0.0064 | -45 | c.210 others(60): Show |
CDH5 | ENSG00000179776.20 | transcript | ENST00000341529.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH7_chr18_65746012_65895337 | 65849339 | TTTTTCTT others(38): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG01099.hp2 HG01516.hp2 others(14): Show |
a0001a0002 | a0001c0006a0001c0007a0002c0002others(1): Show | a0001c0006t0002a0001c0006t0027a0001c0006t0031others(12): Show | a0001c0006t0002g0069 a0001c0006t0027g0147 a0001c0006t0027g0148 others(14): Show |
17 | 140 | 0.1214 | -45 | c.123 others(64): Show |
CDH7 | ENSG00000081138.14 | transcript | ENST00000397968.4 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CDK14_chr7_90591321_91215590 | 91186241 | CCCTCTCC others(38): Show |
C | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 164 | 0.0061 | -45 | c.*29 others(64): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CDK2AP1_chr12_123255976_123276856 | 123274770 | GGAAGGAA others(38): Show |
G | upstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0037 | 1 | 315 | 0.0032 | -45 | c.-31 others(56): Show |
CDK2AP1 | ENSG00000111328.7 | transcript | ENST00000261692.7 | protein_coding | 2915 | chr12 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46512231 | GAGGACCA others(38): Show |
G | intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0016 | a0002c0016t0003 | a0002c0016t0003g0025 | 1 | 102 | 0.0098 | -45 | c.354 others(66): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81208083 | CACCACAC others(38): Show |
C | intron_variant | MODIFIER | HG02622.hp2 | a0003 | a0003c0014 | a0003c0014t0003 | a0003c0014t0003g0325 | 1 | 382 | 0.0026 | -45 | c.272 others(60): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81212528 | CTGGGCAG others(38): Show |
C | intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0045 | 1 | 382 | 0.0026 | -45 | c.178 others(62): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 2/25 | chr17 | TogoVar | |||||||
CETN1_chr18_575380_587114 | 585803 | AAATGGGT others(38): Show |
A | downstream_gene_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 420 | 0.0024 | -45 | c.*48 others(56): Show |
CETN1 | ENSG00000177143.5 | transcript | ENST00000327228.5 | protein_coding | 3690 | chr18 | TogoVar | |||||||
CFAP107_chr1_12741200_12768699 | 12754348 | CTAGTATC others(38): Show |
C | intron_variant | MODIFIER | NA19059.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0052 | 1 | 334 | 0.0030 | -45 | c.112 others(62): Show |
CFAP107 | ENSG00000157330.10 | transcript | ENST00000614859.5 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132887158 | CTCTCTCT others(38): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01243.hp1 HG02280.hp1 others(12): Show |
a0010a0016a0022others(8): Show | a0010c0072a0016c0026a0016c0094others(11): Show | a0010c0072t0002a0016c0026t0002a0016c0094t0001others(11): Show | a0010c0072t0002g0004 a0016c0026t0002g0097 a0016c0094t0001g0118 others(12): Show |
15 | 244 | 0.0615 | -45 | c.330 others(64): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP54_chr12_96484577_96880555 | 96874590 | CTGTTCTG others(38): Show |
C | intron_variant | MODIFIER | HG01978.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0219 | 1 | 266 | 0.0038 | -45 | c.*15 others(60): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 67/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP65_chr2_218997846_219046516 | 219009680 | GTGGGGTG others(38): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02615.hp2 others(5): Show |
a0004a0005a0008 | a0004c0004a0005c0007a0008c0010 | a0004c0004t0003a0005c0007t0003a0008c0010t0003 | a0004c0004t0003g0190 a0005c0007t0003g0031 a0005c0007t0003g0178 others(4): Show |
8 | 320 | 0.0250 | -45 | c.445 others(62): Show |
CFAP65 | ENSG00000181378.14 | transcript | ENST00000341552.10 | protein_coding | 27/34 | chr2 | TogoVar | |||||||
CFAP69_chr7_90240174_90316063 | 90290743 | GTCTTTTC others(38): Show |
G | intron_variant | MODIFIER | HG03041.hp1 HG03130.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0160 a0001c0002t0004g0161 |
2 | 4 | 0.5000 | -45 | c.177 others(64): Show |
CFAP69 | ENSG00000105792.19 | transcript | ENST00000389297.8 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69843551 | CCTCCTCC others(38): Show |
C | intron_variant | MODIFIER | HG02809.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0361 a0001c0001t0001g0362 |
2 | 352 | 0.0057 | -45 | c.153 others(60): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69843554 | CCTCCTTC others(38): Show |
C | intron_variant | MODIFIER | HG03453.hp1 HG03540.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0355 a0001c0001t0001g0364 a0001c0001t0001g0365 |
3 | 322 | 0.0093 | -45 | c.153 others(60): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126863826 | TACCATCA others(38): Show |
T | intron_variant | MODIFIER | HG01346.hp1 HG01928.hp2 HG01981.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 a0001c0001t0001g0140 a0001c0001t0001g0144 others(2): Show |
5 | 213 | 0.0235 | -45 | c.495 others(64): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 261929 | CAGATCTA others(38): Show |
C | intron_variant | MODIFIER | HG01346.hp1 HG03579.hp1 NA18747.hp1 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0004others(1): Show | a0001c0001t0001g0178 a0001c0001t0001g0185 a0002c0002t0001g0164 others(2): Show |
5 | 277 | 0.0181 | -45 | c.-95 others(64): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 262334 | TAGATCTA others(38): Show |
T | intron_variant | MODIFIER | HG02922.hp1 HG03453.hp1 |
a0003a0021 | a0003c0003a0021c0027 | a0003c0003t0001a0021c0027t0054 | a0003c0003t0001g0109 a0021c0027t0054g0110 |
2 | 206 | 0.0097 | -45 | c.-95 others(64): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHRNA10_chr11_3660587_3676384 | 3663089 | ATCATCTC others(38): Show |
A | downstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0015 | 1 | 213 | 0.0047 | -45 | c.*29 others(56): Show |
CHRNA10 | ENSG00000129749.3 | transcript | ENST00000250699.2 | protein_coding | 2497 | chr11 | TogoVar | |||||||
CHRNA10_chr11_3660587_3676384 | 3675390 | AACTCTGC others(38): Show |
A | upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 448 | 0.0022 | -45 | c.-41 others(56): Show |
CHRNA10 | ENSG00000129749.3 | transcript | ENST00000250699.2 | protein_coding | 4007 | chr11 | TogoVar | |||||||
CHST12_chr7_2398611_2453484 | 2452522 | GCCCTGCC others(38): Show |
G | downstream_gene_variant | MODIFIER | HG01257.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0002 a0001c0001t0025g0138 |
2 | 341 | 0.0059 | -45 | c.*18 others(58): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 4039 | chr7 | TogoVar | |||||||
CHST12_chr7_2398611_2453484 | 2452577 | CCCCTCCC others(38): Show |
C | downstream_gene_variant | MODIFIER | HG01074.hp2 HG01361.hp1 HG01934.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0027a0001c0001t0041a0001c0001t0072others(3): Show | a0001c0001t0027g0093 a0001c0001t0027g0094 a0001c0001t0041g0116 others(4): Show |
7 | 322 | 0.0217 | -45 | c.*18 others(58): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 4094 | chr7 | TogoVar | |||||||
CHSY1_chr15_101170727_101257048 | 101173588 | AAGGGCCC others(38): Show |
A | downstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0323 | 1 | 420 | 0.0024 | -45 | c.*37 others(56): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 2138 | chr15 | TogoVar | |||||||
CIB4_chr2_26576205_26646366 | 26589027 | TTCTTCTT others(38): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01175.hp1 HG02738.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0012 a0001c0001t0001g0216 a0001c0001t0001g0243 others(2): Show |
6 | 342 | 0.0175 | -45 | c.329 others(62): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | |||||||
CIPC_chr14_77093258_77122287 | 77116847 | GTAGTGAT others(38): Show |
G | 3_prime_UTR_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0010 | 1 | 424 | 0.0024 | -45 | c.*25 others(56): Show |
CIPC | ENSG00000198894.8 | transcript | ENST00000361786.7 | protein_coding | 4/4 | 2531 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CLASP1_chr2_121332776_121654462 | 121611592 | GGAGGAGG others(38): Show |
G | intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0121 | 1 | 212 | 0.0047 | -45 | c.-28 others(64): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 1/40 | chr2 | TogoVar | |||||||
CLDN8_chr21_30209006_30221097 | 30210367 | TATATATA others(38): Show |
T | downstream_gene_variant | MODIFIER | NA19043.hp1 | a0005 | a0005c0004 | a0005c0004t0004 | a0005c0004t0004g0000 | 1 | 464 | 0.0022 | -45 | c.*48 others(56): Show |
CLDN8 | ENSG00000156284.6 | transcript | ENST00000399899.2 | protein_coding | 3638 | chr21 | TogoVar | |||||||
CLN8_chr8_1758789_1791570 | 1785248 | CCTACGGT others(38): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0002 | 1 | 412 | 0.0024 | -45 | c.*47 others(56): Show |
CLN8 | ENSG00000182372.10 | transcript | ENST00000331222.6 | protein_coding | 3/3 | 4704 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CLN8_chr8_1758789_1791570 | 1785302 | ACACAGGC others(38): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0076 | a0001c0001t0076g0017 | 1 | 412 | 0.0024 | -45 | c.*47 others(56): Show |
CLN8 | ENSG00000182372.10 | transcript | ENST00000331222.6 | protein_coding | 3/3 | 4749 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CLN8_chr8_1758789_1791570 | 1785490 | GGCGTGGG others(38): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 412 | 0.0024 | -45 | c.*49 others(56): Show |
CLN8 | ENSG00000182372.10 | transcript | ENST00000331222.6 | protein_coding | 3/3 | 4968 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CMC4_chrX_155056622_155076136 | 155057034 | CCTCATCC others(38): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG01168.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 290 | 0.0069 | -45 | c.*47 others(56): Show |
CMC4 | ENSG00000182712.16 | transcript | ENST00000369484.8 | protein_coding | 4587 | chrX | TogoVar | |||||||
CMKLR2_chr2_206170316_206218371 | 206172992 | AGGGAGAG others(38): Show |
A | downstream_gene_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0112 | 1 | 319 | 0.0031 | -45 | c.*31 others(56): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2323 | chr2 | TogoVar |