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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP104_chr1_3807086_3862211 | 3832492 | GACCAGGA others(41): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp1 others(136): Show |
a0001a0002a0007others(2): Show | a0001c0006a0002c0002a0002c0005others(4): Show | a0001c0006t0006a0002c0002t0001a0002c0002t0011others(9): Show | a0001c0006t0006g0124a0001c0006t0006g0126a0001c0006t0006g0127others(108): Show | 139 | 382 | 0.3639 | -48 | c.166 others(67): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 12/21 | chr1 | TogoVar | ||||||
CEP85_chr1_26229200_26283808 | 26282320 | TCCAGGAC others(41): Show |
T | downstream_gene_variant | MODIFIER | HG02572.hp1 HG02809.hp1 HG03486.hp2 |
a0001a0003 | a0001c0016a0003c0003 | a0001c0016t0011a0003c0003t0004 | a0001c0016t0011g0324a0003c0003t0004g0316a0003c0003t0004g0318 | 3 | 342 | 0.0088 | -48 | c.*50 others(59): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 3513 | chr1 | TogoVar | ||||||
CERCAM_chr9_128415857_128442347 | 128437918 | TACACGTA others(41): Show |
T | downstream_gene_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01167.hp1 others(29): Show |
a0001a0004 | a0001c0001a0004c0014 | a0001c0001t0001a0004c0014t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(15): Show | 32 | 400 | 0.0800 | -48 | c.*10 others(59): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 572 | chr9 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132906551 | AGCGTGAT others(41): Show |
A | intron_variant | MODIFIER | HG03486.hp2 NA18980.hp2 |
a0001a0010 | a0001c0001a0010c0072 | a0001c0001t0002a0010c0072t0002 | a0001c0001t0002g0068a0010c0072t0002g0004 | 2 | 246 | 0.0081 | -48 | c.292 others(67): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 22/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132906719 | TGAGAAGA others(41): Show |
T | intron_variant | MODIFIER | NA19067.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0160 | 1 | 246 | 0.0041 | -48 | c.292 others(67): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 22/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132906756 | GTCCTGGG others(41): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG03017.hp1 HG03669.hp1 |
a0050a0051a0066 | a0050c0104a0051c0105a0066c0077 | a0050c0104t0001a0051c0105t0001a0066c0077t0001 | a0050c0104t0001g0236a0051c0105t0001g0239a0066c0077t0001g0127 | 3 | 246 | 0.0122 | -48 | c.292 others(67): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 22/57 | chr10 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96664723 | ATCTATAT others(41): Show |
A | intron_variant | MODIFIER | HG02486.hp1 | a0007 | a0007c0028 | a0007c0028t0001 | a0007c0028t0001g0181 | 1 | 268 | 0.0037 | -48 | c.556 others(65): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 39/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP77_chr9_132405211_132578319 | 132485994 | ATATATAT others(41): Show |
A | intron_variant | MODIFIER | HG02895.hp1 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0247 | 1 | 322 | 0.0031 | -48 | c.196 others(67): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP92_chr3_128904873_128999076 | 128954848 | CCCCGTCC others(41): Show |
C | intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 342 | 0.0029 | -48 | c.135 others(67): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 9/15 | chr3 | TogoVar | ||||||
CFAP92_chr3_128904873_128999076 | 128954878 | CCCCCCGC others(41): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG02074.hp1 NA18959.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046a0001c0001t0001g0223a0001c0001t0001g0232others(1): Show | 4 | 342 | 0.0117 | -48 | c.135 others(67): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 9/15 | chr3 | TogoVar | ||||||
CFAP92_chr3_128904873_128999076 | 128954916 | GGGGGTGT others(41): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00558.hp2 others(61): Show |
a0001a0003a0005others(4): Show | a0001c0001a0001c0002a0003c0006others(5): Show | a0001c0001t0001a0001c0002t0001a0003c0006t0002others(5): Show | a0001c0001t0001g0016a0001c0001t0001g0021a0001c0001t0001g0216others(61): Show | 64 | 342 | 0.1871 | -48 | c.135 others(67): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 9/15 | chr3 | TogoVar | ||||||
CFAP92_chr3_128904873_128999076 | 128955144 | GGGGGGTC others(41): Show |
G | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0147 | 1 | 342 | 0.0029 | -48 | c.135 others(67): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 9/15 | chr3 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69843542 | CCTCCTCC others(41): Show |
C | intron_variant | MODIFIER | HG02922.hp1 HG03225.hp1 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0013t0001 | a0001c0001t0001g0307a0001c0013t0001g0154 | 2 | 380 | 0.0053 | -48 | c.153 others(63): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP95_chr9_69815817_69911227 | 69843551 | CCTCCTCC others(41): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02717.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0359a0001c0001t0001g0362a0001c0001t0001g0366others(1): Show | 4 | 380 | 0.0105 | -48 | c.153 others(63): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP95_chr9_69815817_69911227 | 69843554 | CCTCCTTC others(41): Show |
C | intron_variant | MODIFIER | HG02818.hp2 HG03130.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0360a0001c0001t0001g0361a0001c0001t0001g0369 | 3 | 380 | 0.0079 | -48 | c.153 others(63): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFD_chr19_854664_868641 | 866606 | CTGCACCC others(41): Show |
C | downstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 287 | 0.0035 | -48 | c.*33 others(59): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 2966 | chr19 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196692746 | TTTTCTTT others(41): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp2 HG02896.hp2 others(2): Show |
a0007 | a0007c0007 | a0007c0007t0002 | a0007c0007t0002g0001a0007c0007t0002g0022a0007c0007t0002g0024others(1): Show | 5 | 308 | 0.0162 | -48 | c.133 others(67): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFLAR_chr2_201111164_201181687 | 201166222 | ACCTCCCT others(41): Show |
A | 3_prime_UTR_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0132 | a0001c0001t0132g0062 | 1 | 234 | 0.0043 | -48 | c.*22 others(59): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 10/10 | 2260 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
CFLAR_chr2_201111164_201181687 | 201166233 | CGACGGGG others(41): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG01070.hp2 HG01071.hp2 others(7): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0022a0001c0002t0023a0001c0002t0052others(5): Show | a0001c0002t0022g0085a0001c0002t0022g0086a0001c0002t0023g0084others(7): Show | 10 | 234 | 0.0427 | -48 | c.*22 others(59): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 10/10 | 2274 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
CHAF1B_chr21_36380392_36424015 | 36401352 | AATATATT others(41): Show |
A | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 346 | 0.0029 | -48 | c.664 others(65): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CHCHD6_chr3_126699240_126965420 | 126862644 | TTCCACCA others(41): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088a0001c0001t0001g0113a0001c0001t0001g0114 | 3 | 216 | 0.0139 | -48 | c.495 others(65): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCHD6_chr3_126699240_126965420 | 126862671 | CACCATCA others(41): Show |
C | intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0011 | 1 | 216 | 0.0046 | -48 | c.495 others(66): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHD6_chr20_41397083_41623377 | 41555849 | TGGCGGCT others(41): Show |
T | intron_variant | MODIFIER | HG01358.hp2 | a0016 | a0016c0023 | a0016c0023t0001 | a0016c0023t0001g0106 | 1 | 324 | 0.0031 | -48 | c.-23 others(65): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 1/36 | chr20 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239404394 | AAGAAAGA others(41): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0114 | 1 | 116 | 0.0086 | -48 | c.-52 others(69): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHRNA10_chr11_3660587_3676384 | 3663066 | ATCTCATC others(41): Show |
A | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02109.hp1 HG02257.hp1 others(6): Show |
a0001a0011a0013 | a0001c0001a0011c0013a0013c0016 | a0001c0001t0002a0011c0013t0002a0013c0016t0002 | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0002g0038others(2): Show | 9 | 450 | 0.0200 | -48 | c.*29 others(59): Show |
CHRNA10 | ENSG00000129749.3 | transcript | ENST00000250699.2 | protein_coding | 2520 | chr11 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33618397 | GTCTTCTT others(41): Show |
G | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02145.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0017a0001c0003t0003g0016 | 2 | 254 | 0.0079 | -48 | c.-40 others(59): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3555 | chr19 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33757387 | GAAGAAAG others(41): Show |
G | intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 254 | 0.0039 | -48 | c.131 others(67): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHST8_chr19_33616953_33778506 | 33757478 | GAAAGAAA others(41): Show |
G | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053 | 1 | 254 | 0.0039 | -48 | c.131 others(67): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHST8_chr19_33616953_33778506 | 33757482 | GAAAGAAA others(41): Show |
G | intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0050 | 1 | 254 | 0.0039 | -48 | c.131 others(67): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHST8_chr19_33616953_33778506 | 33757486 | GAAAGAAA others(41): Show |
G | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 254 | 0.0039 | -48 | c.131 others(67): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHSY3_chr5_129899465_130191634 | 130143726 | GTGTGTGT others(41): Show |
G | intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0071 | 1 | 276 | 0.0036 | -48 | c.108 others(69): Show |
CHSY3 | ENSG00000198108.4 | transcript | ENST00000305031.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHTF18_chr16_783620_803074 | 786973 | GGCCCAGG others(41): Show |
G | upstream_gene_variant | MODIFIER | HG01243.hp1 | a0051 | a0051c0045 | a0051c0045t0001 | a0051c0045t0001g0082 | 1 | 428 | 0.0023 | -48 | c.-17 others(59): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 1646 | chr16 | TogoVar | ||||||
CLDN4_chr7_73825996_73837690 | 73836185 | GTCAGCCC others(41): Show |
G | downstream_gene_variant | MODIFIER | HG00544.hp2 HG02145.hp1 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 3 | 372 | 0.0081 | -48 | c.*43 others(59): Show |
CLDN4 | ENSG00000189143.10 | transcript | ENST00000340958.4 | protein_coding | 3496 | chr7 | TogoVar | ||||||
CLDN4_chr7_73825996_73837690 | 73836190 | CCCCCCGC others(41): Show |
C | downstream_gene_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 372 | 0.0027 | -48 | c.*43 others(59): Show |
CLDN4 | ENSG00000189143.10 | transcript | ENST00000340958.4 | protein_coding | 3501 | chr7 | TogoVar | ||||||
CLDN4_chr7_73825996_73837690 | 73836228 | GGGGGCAT others(41): Show |
G | downstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 372 | 0.0027 | -48 | c.*43 others(59): Show |
CLDN4 | ENSG00000189143.10 | transcript | ENST00000340958.4 | protein_coding | 3539 | chr7 | TogoVar | ||||||
CLEC1A_chr12_10064554_10103985 | 10088427 | TAACTGTT others(41): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): Show |
a0001a0004 | a0001c0001a0001c0005a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0009others(182): Show | 211 | 384 | 0.5495 | -48 | c.214 others(63): Show |
CLEC1A | ENSG00000150048.10 | transcript | ENST00000315330.8 | protein_coding | 2/5 | chr12 | TogoVar | ||||||
CLIC5_chr6_45893456_46020860 | 46006093 | CATATATA others(41): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(95): Show |
a0001a0005 | a0001c0001a0001c0009a0005c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0009a0001c0001t0001g0030a0001c0001t0001g0031others(95): Show | 98 | 340 | 0.2882 | -48 | c.63+ others(63): Show |
CLIC5 | ENSG00000112782.19 | transcript | ENST00000339561.12 | protein_coding | 1/5 | chr6 | TogoVar | ||||||
CLIP1_chr12_122266469_122427669 | 122326245 | AGTGAGAC others(41): Show |
A | intron_variant | MODIFIER | NA18985.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0092 | 1 | 234 | 0.0043 | -48 | c.324 others(67): Show |
CLIP1 | ENSG00000130779.22 | transcript | ENST00000620786.5 | protein_coding | 17/25 | chr12 | TogoVar | ||||||
CLMP_chr11_123064872_123200248 | 123118955 | TTCTTTCT others(41): Show |
T | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0018 | 1 | 254 | 0.0039 | -48 | c.29- others(65): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
CLPX_chr15_65143219_65190342 | 65145958 | AAAATATA others(41): Show |
A | downstream_gene_variant | MODIFIER | HG03195.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0144a0001c0001t0002g0146 | 2 | 190 | 0.0105 | -48 | c.*48 others(59): Show |
CLPX | ENSG00000166855.9 | transcript | ENST00000300107.7 | protein_coding | 2260 | chr15 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 140419520 | CATATGTG others(41): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02630.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0030a0001c0008t0016 | a0001c0001t0030g0059a0001c0008t0016g0051 | 2 | 110 | 0.0182 | -48 | c.638 others(65): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLUL1_chr18_591988_655182 | 596819 | TCTGCAGG others(41): Show |
T | upstream_gene_variant | MODIFIER | NA18939.hp1 NA18946.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0027a0001c0001t0005g0028 | 2 | 414 | 0.0048 | -48 | c.-44 others(57): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 168 | chr18 | TogoVar | ||||||
CLUL1_chr18_591988_655182 | 596921 | TCTGCAGG others(41): Show |
T | upstream_gene_variant | MODIFIER | NA18939.hp1 NA18946.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0027a0001c0001t0005g0028 | 2 | 414 | 0.0048 | -48 | c.-34 others(57): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 66 | chr18 | TogoVar | ||||||
CMC2_chr16_80961448_81011885 | 80963393 | TATTTAAC others(41): Show |
T | downstream_gene_variant | MODIFIER | NA18977.hp2 NA19054.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0007 | 2 | 408 | 0.0049 | -48 | c.*12 others(61): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 3054 | chr16 | TogoVar | ||||||
CMTM4_chr16_66609750_66701743 | 66631197 | TGTCCGGG others(41): Show |
T | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 320 | 0.0031 | -48 | c.363 others(65): Show |
CMTM4 | ENSG00000183723.13 | transcript | ENST00000394106.7 | protein_coding | 2/3 | chr16 | TogoVar | ||||||
CMTM4_chr16_66609750_66701743 | 66631202 | GGGAGGGA others(41): Show |
G | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 320 | 0.0031 | -48 | c.363 others(65): Show |
CMTM4 | ENSG00000183723.13 | transcript | ENST00000394106.7 | protein_coding | 2/3 | chr16 | TogoVar | ||||||
CNBP_chr3_129162827_129188896 | 129172620 | GCAGCCAG others(41): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00673.hp2 HG01496.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0026 | a0001c0001t0001g0028a0001c0002t0026g0190 | 3 | 430 | 0.0070 | -48 | c.-14 others(63): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
CNGB3_chr8_86569179_86748634 | 86694081 | CCCCCCCA others(41): Show |
C | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 | 1 | 288 | 0.0035 | -48 | c.339 others(67): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 3/17 | chr8 | TogoVar | ||||||
CNN2_chr19_1021608_1044065 | 1036664 | AGTCTCAG others(41): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0022 | 2 | 390 | 0.0051 | -48 | c.654 others(63): Show |
CNN2 | ENSG00000064666.15 | transcript | ENST00000263097.9 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CNTFR_chr9_34546433_34594724 | 34555903 | GCCATCTC others(41): Show |
G | intron_variant | MODIFIER | HG02965.hp1 HG03516.hp1 HG03540.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028a0001c0001t0001g0109a0001c0001t0001g0111others(2): Show | 6 | 402 | 0.0149 | -48 | c.768 others(63): Show |
CNTFR | ENSG00000122756.15 | transcript | ENST00000378980.8 | protein_coding | 7/9 | chr9 | TogoVar |