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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP9B_chr18_79064394_79383283 | 79356838 | TCTGGGTC others(71): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00639.hp2 others(64): Show |
a0001a0002a0006others(2): Show | a0001c0003a0001c0004a0001c0006others(7): Show | a0001c0003t0003a0001c0003t0011a0001c0003t0013others(15): Show | a0001c0003t0003g0112 a0001c0003t0003g0115 a0001c0003t0003g0121 others(64): Show |
67 | 298 | 0.2248 | -78 | c.290 others(97): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79357740 | CCTGTGTG others(71): Show |
C | intron_variant | MODIFIER | HG01346.hp1 NA18961.hp2 NA18992.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0015a0002c0005 | a0001c0001t0001a0001c0015t0001a0002c0005t0001 | a0001c0001t0001g0045 a0001c0001t0001g0086 a0001c0015t0001g0132 others(1): Show |
4 | 298 | 0.0134 | -78 | c.290 others(97): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
AVPI1_chr10_97672424_97692241 | 97678880 | GGTGTGTG others(71): Show |
G | intron_variant | MODIFIER | HG03688.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0130 | 1 | 446 | 0.0022 | -78 | c.287 others(93): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82971723 | GACCACAC others(71): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp1 HG01069.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 others(6): Show |
9 | 266 | 0.0338 | -78 | c.460 others(95): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83003148 | CACTCTCT others(71): Show |
C | intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0008 | a0001c0008t0005 | a0001c0008t0005g0203 | 1 | 266 | 0.0038 | -78 | c.459 others(95): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159325041 | TATTATAT others(71): Show |
T | intron_variant | MODIFIER | HG02895.hp1 HG02965.hp1 |
a0001a0006 | a0001c0019a0006c0006 | a0001c0019t0002a0006c0006t0002 | a0001c0019t0002g0136 a0006c0006t0002g0149 |
2 | 216 | 0.0093 | -78 | c.621 others(94): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 35/36 | chr2 | TogoVar | |||||||
BCKDK_chr16_31103386_31117791 | 31104643 | CCCGCCCG others(71): Show |
C | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01106.hp1 HG01891.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
29 | 300 | 0.0967 | -78 | c.-40 others(89): Show |
BCKDK | ENSG00000103507.14 | transcript | ENST00000219794.11 | protein_coding | 3742 | chr16 | TogoVar | |||||||
BCKDK_chr16_31103386_31117791 | 31105177 | TGGCCAGC others(71): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 | 1 | 300 | 0.0033 | -78 | c.-34 others(89): Show |
BCKDK | ENSG00000103507.14 | transcript | ENST00000219794.11 | protein_coding | 3208 | chr16 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60507213 | AGGAAGGA others(71): Show |
A | intron_variant | MODIFIER | HG02080.hp1 HG02135.hp2 NA18945.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0065 a0001c0001t0002g0122 a0001c0001t0003g0158 others(1): Show |
4 | 262 | 0.0153 | -78 | c.386 others(97): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | |||||||
BICD1_chr12_32101847_32388633 | 32254190 | AATCCCAC others(71): Show |
A | intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0054 a0001c0001t0009g0055 |
2 | 290 | 0.0069 | -78 | c.426 others(97): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32346560 | ATATATAT others(71): Show |
A | intron_variant | MODIFIER | HG01943.hp2 HG02027.hp2 NA18980.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0061 a0001c0002t0001g0069 a0001c0002t0001g0074 others(3): Show |
6 | 290 | 0.0207 | -78 | c.276 others(97): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRAT1_chr7_2532810_2560524 | 2534078 | AGCACCCC others(71): Show |
A | downstream_gene_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0078 | 1 | 424 | 0.0024 | -78 | c.*39 others(89): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 3731 | chr7 | TogoVar | |||||||
BTN2A1_chr6_26452955_26474637 | 26472914 | GTGCTGAA others(71): Show |
G | downstream_gene_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 420 | 0.0024 | -78 | c.*43 others(89): Show |
BTN2A1 | ENSG00000112763.17 | transcript | ENST00000312541.10 | protein_coding | 3278 | chr6 | TogoVar | |||||||
C11orf21_chr11_2290628_2306918 | 2300108 | GAGGGTGG others(71): Show |
G | intron_variant | MODIFIER | HG02015.hp2 HG02698.hp2 |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0024 | 2 | 426 | 0.0047 | -78 | c.147 others(93): Show |
C11orf21 | ENSG00000110665.12 | transcript | ENST00000381153.8 | protein_coding | 2/3 | chr11 | TogoVar | |||||||
C12orf42_chr12_103296955_103500968 | 103478395 | TCCCTTTG others(71): Show |
T | frameshift_variant others(2): Show |
HIGH | HG03490.hp1 | a0011 | a0011c0008 | a0011c0008t0008 | a0011c0008t0008g0101 | 1 | 262 | 0.0038 | -78 | c.-21 others(87): Show |
p.Met others(3): Show |
C12orf42 | ENSG00000179088.16 | transcript | ENST00000548883.6 | protein_coding | 2/6 | 119/1324 | 1/1083 | 1/360 | chr12 | TogoVar | |||
CACNA1B_chr9_137872782_138129619 | 137874299 | AAGCTGTC others(71): Show |
A | upstream_gene_variant | MODIFIER | HG01261.hp2 HG02615.hp2 HG02717.hp2 others(1): Show |
a0001a0004 | a0001c0003a0004c0025a0004c0055 | a0001c0003t0044a0001c0003t0045a0004c0025t0022others(1): Show | a0001c0003t0044g0011 a0001c0003t0045g0008 a0004c0025t0022g0010 others(1): Show |
4 | 248 | 0.0161 | -78 | c.-36 others(89): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3482 | chr9 | TogoVar | |||||||
CACNA1B_chr9_137872782_138129619 | 137874363 | TTTCCTCA others(71): Show |
T | upstream_gene_variant | MODIFIER | HG02486.hp1 HG02559.hp2 HG02647.hp2 others(3): Show |
a0002a0004a0008 | a0002c0004a0004c0023a0008c0021 | a0002c0004t0007a0004c0023t0008a0004c0023t0042others(2): Show | a0002c0004t0007g0176 a0004c0023t0008g0077 a0004c0023t0042g0076 others(3): Show |
6 | 248 | 0.0242 | -78 | c.-35 others(89): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3418 | chr9 | TogoVar | |||||||
CACNA1B_chr9_137872782_138129619 | 137874392 | CCTGTAGG others(71): Show |
C | upstream_gene_variant | MODIFIER | HG01433.hp2 HG02257.hp1 HG02683.hp1 others(3): Show |
a0001a0002 | a0001c0013a0002c0004a0002c0008 | a0001c0013t0009a0001c0013t0027a0002c0004t0001others(1): Show | a0001c0013t0009g0203 a0001c0013t0027g0240 a0002c0004t0001g0175 others(3): Show |
6 | 248 | 0.0242 | -78 | c.-35 others(89): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 3389 | chr9 | TogoVar | |||||||
CACNB2_chr10_18135424_18548557 | 18442936 | ATATATGT others(71): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG01358.hp1 HG02280.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0006a0001c0002t0017others(1): Show | a0001c0001t0003g0080 a0001c0001t0003g0173 a0001c0001t0006g0134 others(3): Show |
6 | 200 | 0.0300 | -78 | c.333 others(97): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18442936 | ATATATGT others(71): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG01358.hp1 HG02280.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0005a0001c0002t0002others(2): Show | a0001c0001t0003g0294 a0001c0001t0003g0298 a0001c0001t0005g0065 others(7): Show |
10 | 302 | 0.0331 | -78 | c.171 others(97): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNG3_chr16_24251335_24367412 | 24317570 | GAAAGAAA others(71): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00639.hp1 HG01106.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0112 a0001c0001t0001g0125 others(11): Show |
14 | 366 | 0.0383 | -78 | c.212 others(97): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNG7_chr19_53904278_53948950 | 53920172 | CCTGGTAT others(71): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0018 |
2 | 364 | 0.0055 | -78 | c.424 others(95): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CACNG7_chr19_53904278_53948950 | 53924636 | GCTGGTCA others(71): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02559.hp2 HG03139.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 others(1): Show |
4 | 364 | 0.0110 | -78 | c.424 others(95): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | chr19 | TogoVar | |||||||
CAMK2B_chr7_44212154_44330594 | 44325325 | CCGGCCCA others(71): Show |
C | frameshift_variant others(3): Show |
HIGH | HG01074.hp2 | a0004 | a0004c0016 | a0004c0016t0009 | a0004c0016t0009g0006 | 1 | 242 | 0.0041 | -78 | c.19_ others(86): Show |
p.Cys others(3): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 1/24 | 19/2001 | 7/666 | chr7 | TogoVar | ||||
CAMKMT_chr2_44356947_44777592 | 44409105 | ATATATAT others(71): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG01192.hp2 HG01891.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0116 others(9): Show |
12 | 198 | 0.0606 | -78 | c.376 others(97): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44182207 | ACACTCAC others(71): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02965.hp2 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0382 a0003c0003t0002g0383 |
2 | 460 | 0.0044 | -78 | c.193 others(95): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CASP5_chr11_104989243_105028168 | 105024750 | AAGGTGTT others(71): Show |
A | upstream_gene_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 396 | 0.0025 | -78 | c.-16 others(89): Show |
CASP5 | ENSG00000137757.11 | transcript | ENST00000260315.8 | protein_coding | 1583 | chr11 | TogoVar | |||||||
CATSPERE_chr1_244456273_244645504 | 244569058 | AACCAGAC others(71): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG02896.hp2 HG02897.hp2 others(1): Show |
a0001a0007a0008 | a0001c0002a0007c0010a0008c0024 | a0001c0002t0001a0007c0010t0001a0008c0024t0001 | a0001c0002t0001g0088 a0007c0010t0001g0137 a0007c0010t0001g0138 others(1): Show |
4 | 206 | 0.0194 | -78 | c.150 others(97): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CCDC126_chr7_23592382_23649708 | 23636811 | GGGAGGTG others(71): Show |
G | intron_variant | MODIFIER | NA18944.hp2 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 a0001c0001t0001g0161 |
2 | 380 | 0.0053 | -78 | c.239 others(95): Show |
CCDC126 | ENSG00000169193.12 | transcript | ENST00000307471.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CCDC57_chr17_82096470_82217842 | 82171171 | AAGGAATT others(71): Show |
A | intron_variant | MODIFIER | HG02818.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0235 | 1 | 252 | 0.0040 | -78 | c.188 others(95): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 12/18 | chr17 | TogoVar | |||||||
CCDC63_chr12_110841987_110912535 | 110867266 | CAGAGGGG others(71): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0169 a0001c0001t0005g0170 |
2 | 288 | 0.0069 | -78 | c.370 others(95): Show |
CCDC63 | ENSG00000173093.13 | transcript | ENST00000308208.10 | protein_coding | 4/11 | chr12 | TogoVar | |||||||
CCDC73_chr11_32597721_32799662 | 32755613 | GTGTGTAT others(71): Show |
G | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 312 | 0.0032 | -78 | c.135 others(95): Show |
CCDC73 | ENSG00000186714.13 | transcript | ENST00000335185.10 | protein_coding | 2/17 | chr11 | TogoVar | |||||||
CCDC73_chr11_32597721_32799662 | 32755697 | ATATATAT others(71): Show |
A | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 312 | 0.0032 | -78 | c.135 others(95): Show |
CCDC73 | ENSG00000186714.13 | transcript | ENST00000335185.10 | protein_coding | 2/17 | chr11 | TogoVar | |||||||
CCDC73_chr11_32597721_32799662 | 32755903 | CTATATAT others(71): Show |
C | intron_variant | MODIFIER | HG03579.hp1 HG03654.hp2 HG03831.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0146 a0001c0003t0001g0147 a0001c0003t0001g0170 |
3 | 312 | 0.0096 | -78 | c.135 others(95): Show |
CCDC73 | ENSG00000186714.13 | transcript | ENST00000335185.10 | protein_coding | 2/17 | chr11 | TogoVar | |||||||
CCDC77_chr12_396644_447642 | 415333 | ATTATGTT others(71): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG02723.hp1 HG02896.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0270 a0002c0002t0001g0114 a0002c0002t0001g0129 others(4): Show |
7 | 432 | 0.0162 | -78 | c.271 others(95): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CCDC77_chr12_396644_447642 | 420539 | CTGTGTGT others(71): Show |
C | intron_variant | MODIFIER | NA18967.hp2 NA19012.hp1 NA19057.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0145 a0002c0002t0002g0162 a0002c0002t0002g0350 others(1): Show |
4 | 432 | 0.0093 | -78 | c.413 others(95): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CCDC77_chr12_396644_447642 | 435077 | ATTCCGTT others(71): Show |
A | intron_variant | MODIFIER | NA18946.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0128 | 1 | 432 | 0.0023 | -78 | c.821 others(95): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 9/12 | chr12 | TogoVar | |||||||
CCNB1IP1_chr14_20306370_20338279 | 20310364 | CACCCGGC others(71): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00544.hp2 others(79): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0044 others(56): Show |
82 | 418 | 0.1962 | -78 | c.*11 others(89): Show |
CCNB1IP1 | ENSG00000100814.19 | transcript | ENST00000358932.9 | protein_coding | 1005 | chr14 | TogoVar | |||||||
CCNB1IP1_chr14_20306370_20338279 | 20310496 | GGCCAGCT others(71): Show |
G | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00597.hp1 others(47): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0044 others(33): Show |
50 | 418 | 0.1196 | -78 | c.*97 others(88): Show |
CCNB1IP1 | ENSG00000100814.19 | transcript | ENST00000358932.9 | protein_coding | 873 | chr14 | TogoVar | |||||||
CD101_chr1_116996760_117041552 | 117029135 | GAAAGAAA others(71): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01255.hp1 HG01515.hp1 |
a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0376 a0005c0007t0001g0377 a0005c0007t0001g0378 |
3 | 426 | 0.0070 | -78 | c.282 others(97): Show |
CD101 | ENSG00000134256.13 | transcript | ENST00000682167.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CD38_chr4_15773328_15858232 | 15791207 | AGTCCGGG others(71): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00621.hp2 others(88): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(43): Show | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0024 others(85): Show |
91 | 344 | 0.2645 | -78 | c.233 others(97): Show |
CD38 | ENSG00000004468.13 | transcript | ENST00000226279.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CDC73_chr1_193117031_193259815 | 193161730 | ATATATAA others(71): Show |
A | intron_variant | MODIFIER | HG03195.hp1 NA18957.hp1 NA18979.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0032 a0001c0001t0001g0063 a0001c0001t0001g0066 others(6): Show |
9 | 274 | 0.0329 | -78 | c.972 others(95): Show |
CDC73 | ENSG00000134371.14 | transcript | ENST00000367435.5 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61282984 | CGTGTGAT others(71): Show |
C | intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0068 | 1 | 106 | 0.0094 | -78 | c.169 others(97): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDH7_chr18_65746012_65895337 | 65782030 | CTTCCTTC others(71): Show |
C | intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0005 | a0002c0005t0069 | a0002c0005t0069g0203 | 1 | 208 | 0.0048 | -78 | c.210 others(97): Show |
CDH7 | ENSG00000081138.14 | transcript | ENST00000397968.4 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CDHR5_chr11_611583_629955 | 611796 | TATGCCCG others(71): Show |
T | downstream_gene_variant | MODIFIER | NA19240.hp1 | a0004 | a0004c0009 | a0004c0009t0004 | a0004c0009t0004g0015 | 1 | 409 | 0.0024 | -78 | c.*54 others(89): Show |
CDHR5 | ENSG00000099834.19 | transcript | ENST00000397542.7 | protein_coding | 4786 | chr11 | TogoVar | |||||||
CDYL_chr6_4771404_4960544 | 4809677 | TTTTGTAT others(71): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02559.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0105 a0001c0001t0002g0194 a0001c0001t0005g0104 others(1): Show |
4 | 250 | 0.0160 | -78 | c.24+ others(95): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDYL_chr6_4771404_4960544 | 4895352 | TATATATG others(71): Show |
T | intron_variant | MODIFIER | HG02165.hp1 NA18999.hp1 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 a0001c0001t0001g0212 a0001c0001t0001g0216 |
3 | 250 | 0.0120 | -78 | c.691 others(95): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37371211 | TCAGCTTT others(71): Show |
T | intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 184 | 0.0054 | -78 | c.370 others(97): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | |||||||
CENPVL3_chrX_51612020_51623912 | 51621503 | ATTCTTCT others(71): Show |
A | upstream_gene_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0000 | 1 | 298 | 0.0034 | -78 | c.-27 others(89): Show |
CENPVL3 | ENSG00000224109.4 | transcript | ENST00000417339.4 | protein_coding | 2592 | chrX | TogoVar | |||||||
CERCAM_chr9_128415857_128442347 | 128437818 | TGTATATA others(71): Show |
T | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02280.hp1 others(3): Show |
a0001a0004 | a0001c0003a0004c0013 | a0001c0003t0001a0004c0013t0001 | a0001c0003t0001g0134 a0001c0003t0001g0139 a0001c0003t0001g0187 others(2): Show |
6 | 400 | 0.0150 | -78 | c.*97 others(88): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 472 | chr9 | TogoVar |