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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNBD1_chr8_86861415_87387859 | 87136914 | T | TATTTATA others(42): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0118 a0001c0001t0003g0134 |
2 | 152 | 0.0132 | 49 | c.432 others(68): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | chr8 | TogoVar | |||||||
CNGB1_chr16_57877340_57976128 | 57879787 | T | TTCTTTCT others(42): Show |
downstream_gene_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 360 | 0.0028 | 49 | c.*43 others(60): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2552 | chr16 | TogoVar | |||||||
CNIH4_chr1_224351879_224384452 | 224378516 | A | ACTGAGGC others(42): Show |
3_prime_UTR_variant | MODIFIER | HG00609.hp1 HG01167.hp2 HG03486.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0028a0001c0001t0053 | a0001c0001t0012g0001 a0001c0001t0012g0102 a0001c0001t0028g0083 others(1): Show |
6 | 324 | 0.0185 | 49 | c.*30 others(60): Show |
CNIH4 | ENSG00000143771.12 | transcript | ENST00000465271.6 | protein_coding | 5/5 | 3094 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNIH4_chr1_224351879_224384452 | 224382463 | T | TACCCGTC others(42): Show |
downstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 324 | 0.0031 | 49 | c.*66 others(60): Show |
CNIH4 | ENSG00000143771.12 | transcript | ENST00000465271.6 | protein_coding | 3012 | chr1 | TogoVar | |||||||
CNNM4_chr2_96755902_96816874 | 96801507 | G | GAGAGACC others(42): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 270 | 0.0037 | 49 | c.194 others(68): Show |
CNNM4 | ENSG00000158158.12 | transcript | ENST00000377075.3 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 146535397 | A | AATATAAT others(42): Show |
intron_variant | MODIFIER | NA18522.hp1 NA20129.hp2 |
a0001 | a0001c0003a0001c0013 | a0001c0003t0023a0001c0013t0003 | a0001c0003t0023g0030 a0001c0013t0003g0039 |
2 | 40 | 0.0500 | 49 | c.98- others(68): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | chr7 | TogoVar | |||||||
CNTNAP2_chr7_146111801_148425998 | 146535397 | A | AATATAAT others(42): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02486.hp1 HG03139.hp2 |
a0001 | a0001c0001a0001c0011a0001c0019 | a0001c0001t0007a0001c0011t0016a0001c0019t0006 | a0001c0001t0007g0020 a0001c0011t0016g0019 a0001c0019t0006g0015 |
3 | 40 | 0.0750 | 49 | c.98- others(68): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | chr7 | TogoVar | |||||||
CNTNAP2_chr7_146111801_148425998 | 148392206 | T | TGGGACTA others(42): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01891.hp2 HG02717.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0019others(1): Show | a0001c0001t0006a0001c0001t0012a0001c0002t0010others(2): Show | a0001c0001t0006g0009 a0001c0001t0012g0034 a0001c0002t0010g0002 others(2): Show |
5 | 40 | 0.1250 | 49 | c.371 others(68): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124304464 | G | GGAATTAT others(42): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01891.hp2 HG02886.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001a0001c0002t0003 | a0001c0001t0003g0006 a0001c0002t0001g0003 a0001c0002t0001g0007 others(2): Show |
5 | 64 | 0.0781 | 49 | c.381 others(68): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45405287 | G | GCTGCGGG others(42): Show |
intron_variant | MODIFIER | HG03654.hp2 NA18990.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0250 a0001c0003t0001g0249 |
2 | 292 | 0.0069 | 49 | c.11+ others(60): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 1/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45405287 | G | GCTGCGGG others(42): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 |
a0001 | a0001c0030 | a0001c0030t0002 | a0001c0030t0002g0285 a0001c0030t0002g0286 |
2 | 292 | 0.0069 | 49 | c.11+ others(60): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 1/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL20A1_chr20_63288186_63339806 | 63293029 | T | TCGTGCTG others(42): Show |
upstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 290 | 0.0035 | 49 | c.-25 others(58): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 156 | chr20 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178294413 | T | TCCCCAAA others(42): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00558.hp2 others(53): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0021others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0076 a0001c0001t0002g0028 a0001c0001t0002g0048 others(53): Show |
56 | 236 | 0.2373 | 49 | c.407 others(66): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 3/28 | chr5 | TogoVar | |||||||
COL26A1_chr7_101357875_101564024 | 101489702 | T | TCTTCTTT others(42): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0025 | 1 | 174 | 0.0058 | 49 | c.385 others(68): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
COL28A1_chr7_7352875_7540873 | 7374038 | A | AAAAAAAA others(42): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0004 | 1 | 196 | 0.0051 | 49 | c.236 others(66): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 31/34 | chr7 | TogoVar | |||||||
COL4A3_chr2_227159624_227319792 | 227193946 | G | GAAGGAAG others(42): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02258.hp1 others(1): Show |
a0003a0006 | a0003c0011a0006c0010 | a0003c0011t0001a0003c0011t0003a0006c0010t0006 | a0003c0011t0001g0002 a0003c0011t0003g0010 a0003c0011t0003g0337 others(1): Show |
4 | 344 | 0.0116 | 49 | c.87+ others(66): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | chr2 | TogoVar | |||||||
COL4A3_chr2_227159624_227319792 | 227249230 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0027 | a0002c0027t0003 | a0002c0027t0003g0342 | 1 | 344 | 0.0029 | 49 | c.546 others(64): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 9/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227249230 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0252 | 1 | 344 | 0.0029 | 49 | c.546 others(64): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 9/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227249230 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01192.hp2 HG03491.hp2 |
a0005a0015a0017 | a0005c0005a0015c0024a0017c0019 | a0005c0005t0007a0015c0024t0002a0017c0019t0004 | a0005c0005t0007g0249 a0015c0024t0002g0294 a0017c0019t0004g0181 |
3 | 344 | 0.0087 | 49 | c.546 others(64): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 9/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130636863 | T | TCCCCTTC others(42): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00642.hp1 others(42): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0002a0003c0004others(20): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(32): Show | a0001c0001t0001g0195 a0001c0001t0002g0163 a0002c0002t0001g0095 others(42): Show |
45 | 264 | 0.1705 | 49 | c.509 others(68): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL8A1_chr3_99633594_99804217 | 99773837 | A | ATATTATA others(42): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0013 | 1 | 262 | 0.0038 | 49 | c.-3- others(66): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL9A2_chr1_40295489_40322286 | 40318314 | A | ATATATAT others(42): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 | 1 | 438 | 0.0023 | 49 | c.-11 others(60): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 1029 | chr1 | TogoVar | |||||||
COL9A2_chr1_40295489_40322286 | 40318314 | A | ATATATAT others(42): Show |
upstream_gene_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0013 | 1 | 438 | 0.0023 | 49 | c.-11 others(60): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 1029 | chr1 | TogoVar | |||||||
COL9A2_chr1_40295489_40322286 | 40318314 | A | ATATATAT others(42): Show |
upstream_gene_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 | 1 | 438 | 0.0023 | 49 | c.-11 others(60): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 1029 | chr1 | TogoVar | |||||||
COL9A2_chr1_40295489_40322286 | 40318314 | A | ATATATAT others(42): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 HG02523.hp1 |
a0001a0004 | a0001c0002a0004c0004 | a0001c0002t0001a0004c0004t0003 | a0001c0002t0001g0048 a0004c0004t0003g0088 |
2 | 438 | 0.0046 | 49 | c.-11 others(60): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 1029 | chr1 | TogoVar | |||||||
COL9A2_chr1_40295489_40322286 | 40318314 | A | ATATATAT others(42): Show |
upstream_gene_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0004 | 1 | 438 | 0.0023 | 49 | c.-11 others(60): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 1029 | chr1 | TogoVar | |||||||
COLEC11_chr2_3590112_3649644 | 3590524 | G | GGGCGGGG others(42): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG01069.hp1 others(31): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0003t0001others(3): Show | a0001c0001t0001g0012 a0001c0001t0001g0187 a0001c0001t0001g0188 others(29): Show |
34 | 378 | 0.0900 | 49 | c.-46 others(60): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 4587 | chr2 | TogoVar | |||||||
COLEC11_chr2_3590112_3649644 | 3590627 | A | ACCTCCCG others(42): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 NA20300.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0027 a0002c0002t0001g0206 |
2 | 378 | 0.0053 | 49 | c.-45 others(60): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 4484 | chr2 | TogoVar | |||||||
COLEC11_chr2_3590112_3649644 | 3590627 | A | ACCTCCCG others(42): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 HG01884.hp2 HG02109.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0004others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(3): Show | a0001c0001t0001g0068 a0001c0001t0001g0346 a0002c0002t0001g0313 others(8): Show |
11 | 378 | 0.0291 | 49 | c.-45 others(60): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 4484 | chr2 | TogoVar | |||||||
COLEC11_chr2_3590112_3649644 | 3590651 | A | AGGCGGGG others(42): Show |
upstream_gene_variant | MODIFIER | HG02083.hp1 HG02083.hp2 HG02257.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(2): Show | a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0323 others(14): Show |
18 | 378 | 0.0476 | 49 | c.-45 others(60): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 4460 | chr2 | TogoVar | |||||||
COLEC11_chr2_3590112_3649644 | 3590651 | A | AGGCGGGG others(42): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG01099.hp1 HG01123.hp1 others(17): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0201 a0001c0001t0001g0270 a0001c0001t0001g0271 others(17): Show |
20 | 378 | 0.0529 | 49 | c.-45 others(60): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 4460 | chr2 | TogoVar | |||||||
COLEC11_chr2_3590112_3649644 | 3613041 | G | GGAGCCCG others(42): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02886.hp1 HG03579.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0319 a0001c0001t0001g0323 a0002c0002t0001g0191 |
3 | 378 | 0.0079 | 49 | c.131 others(64): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COMMD10_chr5_116080025_116298287 | 116158501 | T | TCTCCTCT others(42): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02148.hp2 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309 a0001c0001t0001g0317 a0001c0001t0001g0319 |
3 | 350 | 0.0086 | 49 | c.510 others(68): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
COPE_chr19_18894514_18924387 | 18902825 | G | GAAAGAAA others(42): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0039 | 1 | 330 | 0.0030 | 49 | c.735 others(64): Show |
COPE | ENSG00000105669.14 | transcript | ENST00000262812.9 | protein_coding | 7/9 | chr19 | TogoVar | |||||||
COQ2_chr4_83258824_83289798 | 83276070 | T | TTATATAA others(42): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0052 | 1 | 344 | 0.0029 | 49 | c.421 others(66): Show |
COQ2 | ENSG00000173085.15 | transcript | ENST00000647002.2 | protein_coding | 2/6 | chr4 | TogoVar | |||||||
COX19_chr7_959852_980549 | 977837 | G | GGTCCCCA others(42): Show |
upstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0154 | 1 | 432 | 0.0023 | 49 | c.-23 others(60): Show |
COX19 | ENSG00000240230.6 | transcript | ENST00000344111.4 | protein_coding | 2289 | chr7 | TogoVar | |||||||
CPLX1_chr4_779957_831129 | 825979 | G | GCCGGGGC others(42): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(293): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(278): Show |
296 | 416 | 0.7115 | 49 | c.-80 others(62): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
CPLX1_chr4_779957_831129 | 826262 | C | CCGGGGGC others(42): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 416 | 0.0024 | 49 | c.-29 others(58): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 134 | chr4 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89581219 | T | TGGAACAT others(42): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00621.hp2 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(5): Show | a0001c0001t0001g0318 a0001c0002t0002g0316 a0001c0002t0003g0313 others(22): Show |
28 | 348 | 0.0805 | 49 | c.358 others(66): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587785 | C | CCCGTGTC others(42): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 348 | 0.0029 | 49 | c.927 others(64): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587785 | C | CCCGTGTT others(42): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0139 | 1 | 348 | 0.0029 | 49 | c.927 others(64): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587785 | C | CCGTGTCA others(42): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0336 | 1 | 348 | 0.0029 | 49 | c.927 others(64): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587849 | C | CCCGTGTC others(42): Show |
intron_variant | MODIFIER | HG02055.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 a0001c0001t0001g0216 |
2 | 348 | 0.0058 | 49 | c.927 others(64): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587951 | C | CCGTGTCA others(42): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 348 | 0.0029 | 49 | c.928 others(64): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587951 | C | CCGTGTCA others(42): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 NA18990.hp1 |
a0002a0003 | a0002c0003a0003c0006 | a0002c0003t0002a0003c0006t0003 | a0002c0003t0002g0119 a0003c0006t0003g0231 a0003c0006t0003g0342 |
3 | 348 | 0.0086 | 49 | c.928 others(64): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587977 | C | CCCGTGTT others(42): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0128 | 1 | 348 | 0.0029 | 49 | c.928 others(64): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89588075 | T | TACCCGCG others(42): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0181 | 1 | 348 | 0.0029 | 49 | c.928 others(64): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89588095 | C | CCCGTGTC others(42): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 348 | 0.0029 | 49 | c.928 others(64): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89588095 | C | CCGTGTCA others(42): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 348 | 0.0029 | 49 | c.928 others(64): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPT1C_chr19_49686116_49718731 | 49702004 | T | TTAAATAT others(42): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 1 | 350 | 0.0029 | 49 | c.693 others(64): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |