| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ADGRL3_chr4_61195326_62083335 | 61456383 | ATATATAG others(63): Show |
A | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0018 | 1 | 58 | 0.0172 | -70 | c.-17 others(91): Show |
ADGRL3 | ENSG00000150471.17 | transcript | ENST00000683033.1 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ADPRHL1_chr13_113394611_113458488 | 113412878 | CGCCCCGC others(63): Show |
C | intron_variant | MODIFIER | HG00673.hp2 NA18612.hp2 NA18963.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0128a0002c0002t0002g0130a0002c0002t0002g0205 | 3 | 262 | 0.0115 | -70 | c.106 others(89): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
| AFAP1_chr4_7753714_7944861 | 7766530 | AGGAAACA others(63): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00423.hp2 others(71): Show |
a0001a0002 | a0001c0001a0001c0010a0001c0014others(7): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0014others(20): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0027others(71): Show | 74 | 318 | 0.2327 | -70 | c.241 others(89): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 17/17 | chr4 | TogoVar | ||||||
| AFAP1_chr4_7753714_7944861 | 7766568 | AAACAGAA others(63): Show |
A | intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0197 | 1 | 318 | 0.0031 | -70 | c.241 others(89): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 17/17 | chr4 | TogoVar | ||||||
| AGBL1_chr15_86074871_86921156 | 86827299 | ATATGTAT others(63): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01496.hp1 HG01978.hp1 others(5): Show |
a0001a0004a0007 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0003a0001c0003t0025a0001c0004t0019others(5): Show | a0001c0001t0003g0097a0001c0003t0025g0016a0001c0004t0019g0078others(5): Show | 8 | 132 | 0.0606 | -70 | c.315 others(91): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| AGMO_chr7_15195317_15567015 | 15531417 | CTATATAT others(63): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02055.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0004others(1): Show | a0001c0001t0005a0001c0005t0001a0001c0005t0002others(5): Show | a0001c0001t0005g0049a0001c0005t0001g0006a0001c0005t0001g0007others(8): Show | 11 | 236 | 0.0466 | -70 | c.409 others(89): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
| AK5_chr1_77277019_77564966 | 77391415 | ATATATGT others(63): Show |
A | intron_variant | MODIFIER | HG02630.hp1 HG03139.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0002c0002t0002 | a0001c0001t0007g0106a0002c0002t0002g0065 | 2 | 284 | 0.0070 | -70 | c.892 others(89): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| AKAP17A_chrX_1586604_1607520 | 1587718 | CTCCCTTC others(63): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00558.hp1 others(54): Show |
a0000a0001a0002others(5): Show | a0000c0018a0001c0001a0001c0025others(8): Show | a0000c0018t0002a0001c0001t0001a0001c0001t0002others(12): Show | a0000c0018t0002g0044a0001c0001t0001g0002a0001c0001t0001g0003others(49): Show | 57 | 151 | 0.3775 | -70 | c.-40 others(81): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3885 | chrX | TogoVar | ||||||
| ALDH16A1_chr19_49448225_49476050 | 49463529 | GGGCCTGG others(63): Show |
G | intron_variant | MODIFIER | HG02145.hp2 NA18906.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0003 | a0001c0001t0001g0066a0002c0003t0003g0056 | 2 | 342 | 0.0059 | -70 | c.109 others(87): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| ALDH3B2_chr11_67657155_67679623 | 67670008 | GTGTGTCT others(63): Show |
G | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG03225.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0047a0002c0002t0002g0190 | 3 | 390 | 0.0077 | -70 | c.-24 others(89): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
| ALDH3B2_chr11_67657155_67679623 | 67670104 | GTGTGTGT others(63): Show |
G | intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 390 | 0.0026 | -70 | c.-24 others(89): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
| ALOXE3_chr17_8090900_8123514 | 8107896 | AGAAAGAA others(63): Show |
A | intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0240 | 1 | 422 | 0.0024 | -70 | c.168 others(87): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | ||||||
| ANGPT1_chr8_107244482_107502918 | 107299784 | CTAGATAT others(63): Show |
C | intron_variant | MODIFIER | HG03486.hp2 NA19004.hp1 NA19012.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0019a0001c0001t0001g0086a0001c0001t0001g0282others(1): Show | 4 | 292 | 0.0137 | -70 | c.936 others(87): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 5/8 | chr8 | TogoVar | ||||||
| ANKRD11_chr16_89262630_89495561 | 89290223 | TGGGGGAG others(63): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG01515.hp2 |
a0001a0014 | a0001c0001a0014c0058 | a0001c0001t0001a0014c0058t0001 | a0001c0001t0001g0060a0014c0058t0001g0013 | 2 | 310 | 0.0065 | -70 | c.601 others(85): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 6/12 | chr16 | TogoVar | ||||||
| ANO1_chr11_70073317_70194530 | 70121497 | GTCTGTCT others(63): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG03516.hp1 |
a0001 | a0001c0006a0001c0011 | a0001c0006t0007a0001c0011t0019 | a0001c0006t0007g0023a0001c0011t0019g0253 | 2 | 302 | 0.0066 | -70 | c.898 others(87): Show |
ANO1 | ENSG00000131620.18 | transcript | ENST00000355303.10 | protein_coding | 8/25 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| ANO2_chr12_5557655_5950259 | 5923063 | CACACACA others(63): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01358.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0073a0001c0002t0001g0085 | 2 | 162 | 0.0124 | -70 | c.23- others(83): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 1/24 | chr12 | TogoVar | ||||||
| ARHGAP10_chr4_147727088_148077776 | 147783309 | ACACACAT others(63): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02622.hp2 HG03041.hp1 |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0003c0007t0001 | a0001c0001t0001g0083a0003c0007t0001g0079a0003c0007t0001g0082 | 3 | 106 | 0.0283 | -70 | c.155 others(89): Show |
ARHGAP10 | ENSG00000071205.12 | transcript | ENST00000336498.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ARHGAP39_chr8_144524179_144690846 | 144635735 | GCTGAGGC others(63): Show |
G | intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0182 | 1 | 246 | 0.0041 | -70 | c.-81 others(89): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
| ARHGEF7_chr13_111110310_111310732 | 111221203 | ATAGATAT others(63): Show |
A | intron_variant | MODIFIER | HG02922.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0019 | a0001c0001t0016g0143a0001c0001t0019g0071 | 2 | 274 | 0.0073 | -70 | c.670 others(87): Show |
ARHGEF7 | ENSG00000102606.20 | transcript | ENST00000646102.2 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ARHGEF7_chr13_111110310_111310732 | 111221281 | ATCTATAT others(63): Show |
A | intron_variant | MODIFIER | HG00323.hp1 NA18988.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0238a0001c0001t0004g0247 | 2 | 274 | 0.0073 | -70 | c.670 others(87): Show |
ARHGEF7 | ENSG00000102606.20 | transcript | ENST00000646102.2 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ARMC6_chr19_19028603_19063176 | 19056627 | GATCTGCC others(63): Show |
G | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0055 | 1 | 322 | 0.0031 | -70 | c.129 others(87): Show |
ARMC6 | ENSG00000105676.14 | transcript | ENST00000535612.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| ASB5_chr4_176208673_176274222 | 176219533 | AATATATA others(63): Show |
A | intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 410 | 0.0024 | -70 | c.670 others(87): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
| ATF7IP_chr12_14360682_14507930 | 14419294 | CAGAGTTC others(63): Show |
C | intron_variant | MODIFIER | NA18990.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0250 | 1 | 346 | 0.0029 | -70 | c.-7- others(85): Show |
ATF7IP | ENSG00000171681.13 | transcript | ENST00000261168.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ATP11A_chr13_112685038_112892168 | 112803981 | CCCCTCAT others(63): Show |
C | intron_variant | MODIFIER | HG02129.hp1 | a0002 | a0002c0025 | a0002c0025t0002 | a0002c0025t0002g0037 | 1 | 254 | 0.0039 | -70 | c.163 others(85): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | chr13 | TogoVar | ||||||
| ATP11A_chr13_112685038_112892168 | 112803982 | CCCTCATT others(63): Show |
C | intron_variant | MODIFIER | HG01517.hp2 HG02055.hp2 HG02738.hp2 others(4): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0001c0016others(2): Show | a0001c0002t0014a0001c0004t0006a0001c0016t0004others(3): Show | a0001c0002t0014g0213a0001c0004t0006g0109a0001c0016t0004g0214others(4): Show | 7 | 254 | 0.0276 | -70 | c.163 others(85): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP11A_chr13_112685038_112892168 | 112804043 | CCCTCCTT others(63): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG03669.hp1 NA18971.hp2 others(1): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0012a0001c0005t0001a0001c0005t0020 | a0001c0002t0012g0191a0001c0002t0012g0252a0001c0005t0001g0090others(1): Show | 4 | 254 | 0.0158 | -70 | c.163 others(85): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP1B4_chrX_120357089_120388237 | 120374660 | AATATATA others(63): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0172 | 1 | 353 | 0.0028 | -70 | c.563 others(85): Show |
ATP1B4 | ENSG00000101892.12 | transcript | ENST00000218008.8 | protein_coding | 4/7 | chrX | TogoVar | ||||||
| ATP5F1D_chr19_1236751_1249825 | 1246381 | CCCATTCC others(63): Show |
C | downstream_gene_variant | MODIFIER | HG02258.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 412 | 0.0049 | -70 | c.*19 others(81): Show |
ATP5F1D | ENSG00000099624.8 | transcript | ENST00000215375.7 | protein_coding | 1557 | chr19 | TogoVar | ||||||
| ATP5F1D_chr19_1236751_1249825 | 1246411 | TGGTGTCC others(63): Show |
T | downstream_gene_variant | MODIFIER | HG02622.hp1 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0003 | 2 | 412 | 0.0049 | -70 | c.*19 others(81): Show |
ATP5F1D | ENSG00000099624.8 | transcript | ENST00000215375.7 | protein_coding | 1587 | chr19 | TogoVar | ||||||
| AVPI1_chr10_97672424_97692241 | 97678880 | GGTGTGTG others(63): Show |
G | intron_variant | MODIFIER | HG02486.hp1 NA19084.hp1 NA20129.hp2 |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0004t0001a0002c0002t0002 | a0001c0001t0001g0171a0001c0004t0001g0194a0002c0002t0002g0081 | 3 | 446 | 0.0067 | -70 | c.287 others(85): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | ||||||
| B3GAT1_chr11_134373508_134417242 | 134375740 | GACATGTG others(63): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(55): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0075a0001c0001t0001g0108a0001c0001t0001g0129others(53): Show | 58 | 352 | 0.1648 | -70 | c.*49 others(81): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 2767 | chr11 | TogoVar | ||||||
| B3GNTL1_chr17_82937149_83056770 | 82984410 | AGGGAGAG others(63): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0015 | a0001c0001t0012g0148a0001c0001t0015g0249 | 2 | 266 | 0.0075 | -70 | c.460 others(89): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
| BAZ2B_chr2_159313979_159621548 | 159325047 | ATATATAT others(63): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00609.hp2 others(7): Show |
a0001a0005a0009others(1): Show | a0001c0001a0001c0029a0005c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(4): Show | a0001c0001t0001g0024a0001c0001t0001g0030a0001c0001t0001g0122others(7): Show | 10 | 216 | 0.0463 | -70 | c.621 others(86): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 35/36 | chr2 | TogoVar | ||||||
| BBS4_chr15_72681207_72743473 | 72725798 | CCCCCATC others(63): Show |
C | intron_variant | MODIFIER | HG01358.hp2 HG02486.hp1 HG03669.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0004 | a0001c0001t0001g0366a0002c0002t0001g0221a0002c0002t0004g0201others(2): Show | 5 | 398 | 0.0126 | -70 | c.587 others(87): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| BCKDHB_chr6_80101671_80351270 | 80107490 | CATATATA others(63): Show |
C | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0095 | 1 | 294 | 0.0034 | -70 | c.196 others(85): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| BCR_chr22_23175509_23323037 | 23204372 | TTTTTAAG others(63): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02257.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0049a0001c0001t0051a0001c0001t0162others(13): Show | a0001c0001t0049g0271a0001c0001t0051g0259a0001c0001t0162g0130others(16): Show | 19 | 296 | 0.0642 | -70 | c.127 others(91): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| BEGAIN_chr14_100532147_100592417 | 100557055 | TCTGCCGG others(63): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00642.hp2 others(62): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0014a0001c0002t0001others(8): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011others(57): Show | 65 | 326 | 0.1994 | -70 | c.72- others(87): Show |
BEGAIN | ENSG00000183092.18 | transcript | ENST00000554140.3 | protein_coding | 2/6 | chr14 | TogoVar | ||||||
| BEGAIN_chr14_100532147_100592417 | 100557125 | CCTGCCGG others(63): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248a0001c0001t0001g0260 | 2 | 326 | 0.0061 | -70 | c.72- others(87): Show |
BEGAIN | ENSG00000183092.18 | transcript | ENST00000554140.3 | protein_coding | 2/6 | chr14 | TogoVar | ||||||
| BICD1_chr12_32101847_32388633 | 32346583 | CGTGTATA others(63): Show |
C | intron_variant | MODIFIER | HG02818.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0009 | a0001c0001t0006g0160a0001c0001t0009g0183 | 2 | 290 | 0.0069 | -70 | c.276 others(89): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | chr12 | TogoVar | ||||||
| BPHL_chr6_3113711_3158578 | 3145670 | GGAGTGCT others(63): Show |
G | intron_variant | MODIFIER | HG03239.hp2 HG03927.hp1 HG04184.hp1 |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0224a0001c0008t0001g0225a0001c0008t0001g0227 | 3 | 350 | 0.0086 | -70 | c.788 others(87): Show |
BPHL | ENSG00000137274.13 | transcript | ENST00000380379.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| C13orf46_chr13_113948705_113979076 | 113951566 | CCCAGGCC others(63): Show |
C | downstream_gene_variant | MODIFIER | HG01993.hp1 HG02004.hp2 HG02273.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0053a0002c0002t0004a0002c0002t0044 | a0001c0001t0053g0229a0002c0002t0004g0012a0002c0002t0004g0019others(5): Show | 13 | 414 | 0.0314 | -70 | c.*51 others(81): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 2138 | chr13 | TogoVar | ||||||
| C7orf50_chr7_992006_1143247 | 1001454 | GTCCTGTG others(63): Show |
G | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0298 | 1 | 326 | 0.0031 | -70 | c.324 others(85): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 3/4 | chr7 | TogoVar | ||||||
| CAB39L_chr13_49303650_49449064 | 49318496 | GGGAAAGG others(63): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00438.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0001g0051a0001c0001t0001g0084a0001c0001t0001g0159others(20): Show | 23 | 324 | 0.0710 | -70 | c.835 others(87): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 10/10 | chr13 | TogoVar | ||||||
| CAB39L_chr13_49303650_49449064 | 49318502 | GGGAAAGG others(63): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG02698.hp2 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0184a0001c0001t0002g0127a0001c0001t0003g0018 | 3 | 324 | 0.0093 | -70 | c.835 others(87): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 10/10 | chr13 | TogoVar | ||||||
| CACNB2_chr10_18135424_18548557 | 18442930 | ATATATAT others(63): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01167.hp2 HG01169.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(14): Show | a0001c0001t0001g0031a0001c0001t0003g0030a0001c0001t0003g0072others(18): Show | 21 | 200 | 0.1050 | -70 | c.333 others(89): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CACNB2_chr10_18335709_18548557 | 18442930 | ATATATAT others(63): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00741.hp1 HG01081.hp1 others(24): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(15): Show | a0001c0001t0001g0054a0001c0001t0003g0040a0001c0001t0003g0052others(24): Show | 27 | 302 | 0.0894 | -70 | c.171 others(89): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CACNB4_chr2_151827771_152104044 | 152074609 | CCATCACC others(63): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(58): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0029others(58): Show | 61 | 230 | 0.2652 | -70 | c.147 others(89): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
| CACNG3_chr16_24251335_24367412 | 24317578 | GAAAGAAA others(63): Show |
G | intron_variant | MODIFIER | NA18999.hp1 NA18999.hp2 NA19043.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040a0001c0001t0001g0065a0001c0001t0001g0193others(1): Show | 4 | 366 | 0.0109 | -70 | c.212 others(89): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CAMKMT_chr2_44356947_44777592 | 44409113 | ATATATAT others(63): Show |
A | intron_variant | MODIFIER | HG02015.hp1 HG02683.hp1 HG02698.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171a0001c0001t0001g0176a0001c0001t0001g0177others(3): Show | 6 | 198 | 0.0303 | -70 | c.376 others(89): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CAPN15_chr16_522712_559636 | 542001 | TGGATGTG others(63): Show |
T | intron_variant | MODIFIER | NA19030.hp1 | a0014 | a0014c0041 | a0014c0041t0004 | a0014c0041t0004g0385 | 1 | 410 | 0.0024 | -70 | c.-22 others(87): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |