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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHRNB1_chr17_7440061_7462710 | 7446303 | TTGTGTGT others(29): Show |
T | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 328 | 0.0030 | -36 | c.243 others(51): Show |
CHRNB1 | ENSG00000170175.11 | transcript | ENST00000306071.7 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33618397 | GTCTTCTT others(29): Show |
G | upstream_gene_variant | MODIFIER | HG01099.hp2 HG01891.hp1 HG02071.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0194 others(6): Show |
9 | 189 | 0.0476 | -36 | c.-40 others(47): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3555 | chr19 | TogoVar | |||||||
CHST8_chr19_33616953_33778506 | 33757387 | GAAGAAAG others(29): Show |
G | intron_variant | MODIFIER | HG01515.hp1 | a0003 | a0003c0006 | a0003c0006t0003 | a0003c0006t0003g0130 | 1 | 179 | 0.0056 | -36 | c.131 others(55): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33757498 | GAAAGAAA others(29): Show |
G | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 251 | 0.0040 | -36 | c.131 others(55): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26589036 | TTCTTCTT others(29): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG02717.hp1 HG03130.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(2): Show | a0001c0001t0001g0049 a0001c0001t0001g0316 a0001c0001t0004g0237 others(3): Show |
7 | 334 | 0.0210 | -36 | c.329 others(53): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | |||||||
CINP_chr14_102343282_102367890 | 102350710 | TGATGCTC others(29): Show |
T | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 418 | 0.0024 | -36 | c.307 others(51): Show |
CINP | ENSG00000100865.15 | transcript | ENST00000216756.11 | protein_coding | 3/4 | chr14 | TogoVar | |||||||
CIP2A_chr3_108544864_108594438 | 108575756 | GTATATAT others(29): Show |
G | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0309 | 1 | 369 | 0.0027 | -36 | c.894 others(51): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 8/20 | chr3 | TogoVar | |||||||
CKMT2_chr5_81228322_81271398 | 81258179 | CATGAGCC others(29): Show |
C | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0120 | 1 | 354 | 0.0028 | -36 | c.879 others(51): Show |
CKMT2 | ENSG00000131730.16 | transcript | ENST00000254035.9 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CKS2_chr9_89306195_89321703 | 89317907 | AACCGAGC others(29): Show |
A | downstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 438 | 0.0023 | -36 | c.*14 others(47): Show |
CKS2 | ENSG00000123975.5 | transcript | ENST00000314355.7 | protein_coding | 1205 | chr9 | TogoVar | |||||||
CLASP1_chr2_121332776_121654462 | 121610777 | GAGGAGGA others(29): Show |
G | intron_variant | MODIFIER | HG02896.hp1 HG03209.hp1 NA18998.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0027a0001c0001t0071 | a0001c0001t0007g0121 a0001c0001t0027g0099 a0001c0001t0027g0100 others(1): Show |
4 | 212 | 0.0189 | -36 | c.-28 others(55): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 1/40 | chr2 | TogoVar | |||||||
CLCC1_chr1_108924505_108968484 | 108963237 | CCGCCCCG others(29): Show |
C | intron_variant | MODIFIER | NA18942.hp2 NA18960.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0251 a0001c0002t0002g0252 |
2 | 392 | 0.0051 | -36 | c.-17 others(52): Show |
CLCC1 | ENSG00000121940.17 | transcript | ENST00000369969.7 | protein_coding | 1/12 | chr1 | TogoVar | |||||||
CLCN2_chr3_184341185_184366605 | 184362403 | GCGGAGCG others(29): Show |
G | upstream_gene_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0214 | 1 | 458 | 0.0022 | -36 | c.-96 others(45): Show |
CLCN2 | ENSG00000114859.16 | transcript | ENST00000265593.9 | protein_coding | 799 | chr3 | TogoVar | |||||||
CLC_chr19_39726255_39743029 | 39739153 | AAAGATGT others(29): Show |
A | upstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 440 | 0.0023 | -36 | c.-12 others(47): Show |
CLC | ENSG00000105205.7 | transcript | ENST00000221804.5 | protein_coding | 1125 | chr19 | TogoVar | |||||||
CLDN34_chrX_9962358_9973352 | 9964279 | CCCTTCCT others(29): Show |
C | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 NA19030.hp2 others(1): Show |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0000 | 4 | 30 | 0.1333 | -36 | c.-30 others(47): Show |
CLDN34 | ENSG00000234469.4 | transcript | ENST00000445307.4 | protein_coding | 3078 | chrX | TogoVar | |||||||
CLDN8_chr21_30209006_30221097 | 30210272 | CGTATGTG others(29): Show |
C | downstream_gene_variant | MODIFIER | HG00597.hp2 NA18967.hp1 NA18974.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 3 | 435 | 0.0069 | -36 | c.*49 others(47): Show |
CLDN8 | ENSG00000156284.6 | transcript | ENST00000399899.2 | protein_coding | 3733 | chr21 | TogoVar | |||||||
CLEC4M_chr19_7758243_7774605 | 7770395 | TCCTTAAT others(29): Show |
T | downstream_gene_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 458 | 0.0022 | -36 | c.*14 others(47): Show |
CLEC4M | ENSG00000104938.18 | transcript | ENST00000327325.10 | protein_coding | 791 | chr19 | TogoVar | |||||||
CLIC5_chr6_45893456_46020860 | 46006093 | CATATATA others(29): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0017 | 1 | 184 | 0.0054 | -36 | c.63+ others(51): Show |
CLIC5 | ENSG00000112782.19 | transcript | ENST00000339561.12 | protein_coding | 1/5 | chr6 | TogoVar | |||||||
CLMP_chr11_123064872_123200248 | 123118929 | TTTTCTTT others(29): Show |
T | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0237 | 1 | 208 | 0.0048 | -36 | c.29- others(53): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
CLN8_chr8_1758789_1791570 | 1763579 | CCGCCGCG others(29): Show |
C | upstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0085 | a0001c0001t0085g0030 | 1 | 409 | 0.0024 | -36 | c.-42 others(45): Show |
CLN8 | ENSG00000182372.10 | transcript | ENST00000331222.6 | protein_coding | 209 | chr8 | TogoVar | |||||||
CLN8_chr8_1758789_1791570 | 1763608 | GCCCCCCG others(29): Show |
G | upstream_gene_variant | MODIFIER | HG01106.hp2 HG01433.hp2 HG02273.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0078a0002c0002t0001 | a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0024 others(4): Show |
7 | 409 | 0.0171 | -36 | c.-40 others(45): Show |
CLN8 | ENSG00000182372.10 | transcript | ENST00000331222.6 | protein_coding | 180 | chr8 | TogoVar | |||||||
CLPB_chr11_72280495_72439531 | 72297636 | GGTGTGTG others(29): Show |
G | intron_variant | MODIFIER | HG02922.hp1 | a0007 | a0007c0007 | a0007c0007t0038 | a0007c0007t0038g0023 | 1 | 19 | 0.0526 | -36 | c.142 others(55): Show |
CLPB | ENSG00000162129.15 | transcript | ENST00000294053.9 | protein_coding | 12/16 | chr11 | TogoVar | |||||||
CLPX_chr15_65143219_65190342 | 65145958 | AAAATATA others(29): Show |
A | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG03492.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 a0001c0001t0002g0134 a0001c0001t0002g0148 others(1): Show |
4 | 168 | 0.0238 | -36 | c.*48 others(47): Show |
CLPX | ENSG00000166855.9 | transcript | ENST00000300107.7 | protein_coding | 2260 | chr15 | TogoVar | |||||||
CLSTN2_chr3_139930185_140582397 | 140135113 | CACACATA others(29): Show |
C | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0006 | a0001c0006t0031 | a0001c0006t0031g0024 | 1 | 102 | 0.0098 | -36 | c.110 others(55): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLUAP1_chr16_3496004_3544048 | 3529434 | ATATATTA others(29): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG00741.hp1 others(18): Show |
a0001a0009 | a0001c0001a0001c0004a0009c0009 | a0001c0001t0007a0001c0004t0007a0001c0004t0008others(3): Show | a0001c0001t0007g0011 a0001c0001t0007g0143 a0001c0001t0007g0148 others(13): Show |
21 | 377 | 0.0557 | -36 | c.929 others(53): Show |
CLUAP1 | ENSG00000103351.13 | transcript | ENST00000576634.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CLVS1_chr8_61282970_61506629 | 61347626 | TTATATAT others(29): Show |
T | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056 | 1 | 6 | 0.1667 | -36 | c.456 others(55): Show |
CLVS1 | ENSG00000177182.11 | transcript | ENST00000325897.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CMKLR2_chr2_206170316_206218371 | 206172736 | AGGGAGAG others(29): Show |
A | downstream_gene_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0249 | 1 | 309 | 0.0032 | -36 | c.*34 others(47): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2579 | chr2 | TogoVar | |||||||
CMKLR2_chr2_206170316_206218371 | 206172742 | AGGGAGAG others(29): Show |
A | downstream_gene_variant | MODIFIER | HG00438.hp1 HG01884.hp1 HG01891.hp1 others(14): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 others(14): Show |
17 | 266 | 0.0639 | -36 | c.*34 others(47): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2573 | chr2 | TogoVar | |||||||
CMKLR2_chr2_206170316_206218371 | 206172912 | GGAGACGG others(29): Show |
G | downstream_gene_variant | MODIFIER | HG01106.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0148 | 1 | 320 | 0.0031 | -36 | c.*32 others(47): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2403 | chr2 | TogoVar | |||||||
CMSS1_chr3_99812862_100186732 | 100115557 | TTCTCTCT others(29): Show |
T | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0144 | 1 | 203 | 0.0049 | -36 | c.65- others(53): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87321137 | CAACAGGA others(29): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG00639.hp2 others(43): Show |
a0001a0002a0004 | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(43): Show |
46 | 152 | 0.3026 | -36 | c.104 others(57): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBP_chr3_129162827_129188896 | 129172588 | GCAGGCAG others(29): Show |
G | intron_variant | MODIFIER | HG01516.hp1 HG02965.hp2 HG02976.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0088 a0001c0001t0001g0233 a0001c0001t0002g0080 others(2): Show |
5 | 428 | 0.0117 | -36 | c.-14 others(51): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
CNBP_chr3_129162827_129188896 | 129172632 | GCAGGCAG others(29): Show |
G | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 327 | 0.0031 | -36 | c.-14 others(51): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
CNBP_chr3_129162827_129188896 | 129172636 | GCAGGCAG others(29): Show |
G | intron_variant | MODIFIER | HG00140.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 a0001c0001t0001g0218 |
2 | 347 | 0.0058 | -36 | c.-14 others(51): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
CNBP_chr3_129162827_129188896 | 129182039 | AGGGGGAA others(29): Show |
A | intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0323 | 1 | 428 | 0.0023 | -36 | c.-15 others(53): Show |
CNBP | ENSG00000169714.17 | transcript | ENST00000422453.7 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
CNGA1_chr4_47930977_48021681 | 47998937 | ATTTAATG others(29): Show |
A | intron_variant | MODIFIER | NA19056.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0177 | 1 | 364 | 0.0027 | -36 | c.-12 others(57): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
CNN2_chr19_1021608_1044065 | 1033655 | AGTGTCTG others(29): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(123): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0021 a0001c0001t0001g0042 a0001c0001t0001g0044 others(75): Show |
126 | 327 | 0.3853 | -36 | c.390 others(53): Show |
CNN2 | ENSG00000064666.15 | transcript | ENST00000263097.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CNN2_chr19_1021608_1044065 | 1034200 | GAGCGTGG others(29): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG03516.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0009a0001c0003t0010 | a0001c0001t0009g0046 a0001c0003t0010g0160 |
2 | 319 | 0.0063 | -36 | c.390 others(53): Show |
CNN2 | ENSG00000064666.15 | transcript | ENST00000263097.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CNN2_chr19_1021608_1044065 | 1034284 | GACGGTGT others(29): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG02735.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 a0001c0001t0001g0213 |
2 | 302 | 0.0066 | -36 | c.390 others(53): Show |
CNN2 | ENSG00000064666.15 | transcript | ENST00000263097.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CNN2_chr19_1021608_1044065 | 1034744 | GTGTCTGG others(29): Show |
G | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 388 | 0.0026 | -36 | c.391 others(53): Show |
CNN2 | ENSG00000064666.15 | transcript | ENST00000263097.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CNN2_chr19_1021608_1044065 | 1035181 | GGGGAGCG others(29): Show |
G | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01978.hp2 others(1): Show |
a0001 | a0001c0002a0001c0006a0001c0007 | a0001c0002t0004a0001c0006t0007a0001c0007t0001 | a0001c0002t0004g0201 a0001c0006t0007g0132 a0001c0006t0007g0139 others(1): Show |
4 | 384 | 0.0104 | -36 | c.391 others(51): Show |
CNN2 | ENSG00000064666.15 | transcript | ENST00000263097.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CNOT4_chr7_135356795_135515102 | 135472502 | AAAAAAAA others(29): Show |
A | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0184 | 1 | 359 | 0.0028 | -36 | c.-92 others(55): Show |
CNOT4 | ENSG00000080802.21 | transcript | ENST00000541284.6 | protein_coding | 1/11 | chr7 | TogoVar | |||||||
CNOT4_chr7_135356795_135515102 | 135472504 | AAAAAAAA others(29): Show |
A | intron_variant | MODIFIER | HG01255.hp2 HG02523.hp2 HG02970.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0119 a0001c0001t0001g0340 a0001c0003t0002g0185 others(1): Show |
4 | 349 | 0.0115 | -36 | c.-92 others(55): Show |
CNOT4 | ENSG00000080802.21 | transcript | ENST00000541284.6 | protein_coding | 1/11 | chr7 | TogoVar | |||||||
CNOT4_chr7_135356795_135515102 | 135472506 | AAAAAAAA others(29): Show |
A | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 316 | 0.0032 | -36 | c.-92 others(55): Show |
CNOT4 | ENSG00000080802.21 | transcript | ENST00000541284.6 | protein_coding | 1/11 | chr7 | TogoVar | |||||||
CNOT4_chr7_135356795_135515102 | 135495686 | AAAAAAAA others(29): Show |
A | intron_variant | MODIFIER | HG03688.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0129 | 1 | 267 | 0.0037 | -36 | c.-93 others(55): Show |
CNOT4 | ENSG00000080802.21 | transcript | ENST00000541284.6 | protein_coding | 1/11 | chr7 | TogoVar | |||||||
CNOT6_chr5_180489379_180583358 | 180539551 | CTTTTTTT others(29): Show |
C | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0332 | 1 | 11 | 0.0909 | -36 | c.112 others(55): Show |
CNOT6 | ENSG00000113300.13 | transcript | ENST00000261951.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CNPPD1_chr2_219166897_219181925 | 219177403 | GACGAAAC others(29): Show |
G | upstream_gene_variant | MODIFIER | HG02135.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0004 | 1 | 430 | 0.0023 | -36 | c.-61 others(45): Show |
CNPPD1 | ENSG00000115649.16 | transcript | ENST00000360507.10 | protein_coding | 479 | chr2 | TogoVar | |||||||
CNTLN_chr9_17130040_17508923 | 17442986 | ATTCTGTT others(29): Show |
A | intron_variant | MODIFIER | HG02280.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0211 | 1 | 216 | 0.0046 | -36 | c.311 others(57): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CNTN4_chr3_2093866_3062959 | 2287632 | GAGAAGAA others(29): Show |
G | intron_variant | MODIFIER | HG02572.hp1 HG02809.hp1 HG03209.hp1 |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0003a0001c0002t0001a0001c0006t0004 | a0001c0001t0003g0058 a0001c0002t0001g0110 a0001c0006t0004g0004 |
3 | 109 | 0.0275 | -36 | c.-14 others(57): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTN4_chr3_2093866_3062959 | 2287675 | AGAAGAAG others(29): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG02451.hp2 HG03516.hp2 |
a0001 | a0001c0001a0001c0004a0001c0009 | a0001c0001t0004a0001c0004t0006a0001c0009t0014 | a0001c0001t0004g0042 a0001c0004t0006g0068 a0001c0009t0014g0039 |
3 | 103 | 0.0291 | -36 | c.-14 others(57): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTN4_chr3_2093866_3062959 | 2287693 | GGAAGAAG others(29): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG03486.hp1 |
a0001 | a0001c0007a0001c0023 | a0001c0007t0003a0001c0023t0004 | a0001c0007t0003g0037 a0001c0023t0004g0041 |
2 | 86 | 0.0233 | -36 | c.-14 others(57): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |