| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ETS2_chr21_38800929_38829955 | 38815992 | AAGGAAGG others(58): Show |
A | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 HG01361.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0012 | a0001c0001t0005a0001c0001t0022a0001c0002t0002others(2): Show | a0001c0001t0005g0320a0001c0001t0005g0321a0001c0001t0022g0324others(5): Show | 8 | 426 | 0.0188 | -65 | c.505 others(81): Show |
ETS2 | ENSG00000157557.13 | transcript | ENST00000360938.8 | protein_coding | 5/9 | chr21 | TogoVar | ||||||
| ETS2_chr21_38800929_38829955 | 38815993 | AGGAAGGA others(58): Show |
A | intron_variant | MODIFIER | NA18991.hp2 NA19002.hp1 NA19056.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0044a0001c0002t0002g0059 | 3 | 426 | 0.0070 | -65 | c.506 others(81): Show |
ETS2 | ENSG00000157557.13 | transcript | ENST00000360938.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| EXOC4_chr7_133248078_134070761 | 133823830 | ATATATAT others(58): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 102 | 0.0098 | -65 | c.173 others(84): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| FAM107B_chr10_14513557_14779897 | 14708859 | GATGGAAA others(58): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(118): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0026others(118): Show | 121 | 272 | 0.4449 | -65 | c.412 others(84): Show |
FAM107B | ENSG00000065809.14 | transcript | ENST00000181796.7 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
| FAM174B_chr15_92612448_92660775 | 92630811 | TTTATATA others(58): Show |
T | intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0352 | 1 | 394 | 0.0025 | -65 | c.345 others(80): Show |
FAM174B | ENSG00000185442.13 | transcript | ENST00000327355.6 | protein_coding | 1/2 | chr15 | TogoVar | ||||||
| FAM50B_chr6_3844373_3856317 | 3849973 | CGCCGTGG others(58): Show |
C | frameshift_variant | HIGH | HG02300.hp1 | a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0001 | 1 | 480 | 0.0021 | -65 | c.165 others(72): Show |
p.Val others(4): Show |
FAM50B | ENSG00000145945.7 | transcript | ENST00000648326.1 | protein_coding | 2/2 | 302/1643 | 165/978 | 55/325 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
| FANCA_chr16_89732549_89821647 | 89784963 | GCCTGTGT others(58): Show |
G | frameshift_variant others(3): Show |
HIGH | NA18950.hp1 | a0033 | a0033c0025 | a0033c0025t0003 | a0033c0025t0003g0180 | 1 | 334 | 0.0030 | -65 | c.136 others(77): Show |
p.Ala others(5): Show |
FANCA | ENSG00000187741.16 | transcript | ENST00000389301.8 | protein_coding | 15/43 | 1392/5452 | 1360/4368 | 454/1455 | chr16 | TogoVar | ||
| FBRSL1_chr12_132485151_132590188 | 132533164 | GCAGTCTC others(58): Show |
G | intron_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0092 | 1 | 348 | 0.0029 | -65 | c.615 others(82): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| FBXO28_chr1_224109111_224167047 | 224111046 | ACCAGGAA others(58): Show |
A | upstream_gene_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0356 | 1 | 394 | 0.0025 | -65 | c.-30 others(76): Show |
FBXO28 | ENSG00000143756.12 | transcript | ENST00000366862.10 | protein_coding | 3064 | chr1 | TogoVar | ||||||
| FBXO34_chr14_55266421_55358611 | 55331652 | ATATACCA others(58): Show |
A | intron_variant | MODIFIER | NA18952.hp1 NA18975.hp1 NA18981.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0025a0002c0002t0002g0026a0002c0002t0002g0027others(3): Show | 6 | 334 | 0.0180 | -65 | c.-10 others(84): Show |
FBXO34 | ENSG00000178974.11 | transcript | ENST00000313833.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| FCRL3_chr1_157671481_157705769 | 157701640 | CCAGGATA others(58): Show |
C | upstream_gene_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0199 | 1 | 382 | 0.0026 | -65 | c.-11 others(76): Show |
FCRL3 | ENSG00000160856.21 | transcript | ENST00000368184.8 | protein_coding | 872 | chr1 | TogoVar | ||||||
| FGF12_chr3_192134390_192732541 | 192190482 | TTTTTTTT others(58): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG02109.hp1 HG02145.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0039 | a0001c0001t0001g0019a0001c0001t0001g0030a0001c0001t0001g0037others(5): Show | 8 | 90 | 0.0889 | -65 | c.229 others(84): Show |
FGF12 | ENSG00000114279.15 | transcript | ENST00000445105.7 | protein_coding | 4/5 | chr3 | TogoVar | ||||||
| FGF14_chr13_101705804_101921945 | 101850462 | ATATATAT others(58): Show |
A | intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0144 | a0001c0001t0144g0200 | 1 | 266 | 0.0038 | -65 | c.408 others(84): Show |
FGF14 | ENSG00000102466.17 | transcript | ENST00000376143.5 | protein_coding | 3/4 | chr13 | TogoVar | ||||||
| FLT4_chr5_180596506_180654600 | 180596773 | TTGGCTCG others(58): Show |
T | downstream_gene_variant | MODIFIER | HG02258.hp2 HG02572.hp1 HG03130.hp1 others(3): Show |
a0005a0011a0014 | a0005c0015a0005c0018a0011c0016others(1): Show | a0005c0015t0011a0005c0018t0011a0011c0016t0011others(1): Show | a0005c0015t0011g0171a0005c0015t0011g0172a0005c0015t0011g0288others(3): Show | 6 | 388 | 0.0155 | -65 | c.*63 others(76): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 4732 | chr5 | TogoVar | ||||||
| FRK_chr6_115926149_116065891 | 115958700 | GAAAGAAG others(58): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0195a0001c0001t0011g0237 | 2 | 274 | 0.0073 | -65 | c.800 others(82): Show |
FRK | ENSG00000111816.8 | transcript | ENST00000606080.2 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
| FRMD1_chr6_168048095_168084212 | 168075857 | CCACATTT others(58): Show |
C | intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0074 | 1 | 402 | 0.0025 | -65 | c.214 others(80): Show |
FRMD1 | ENSG00000153303.18 | transcript | ENST00000283309.11 | protein_coding | 1/10 | chr6 | TogoVar | ||||||
| FRMD1_chr6_168048095_168084212 | 168075862 | TTTCCGGT others(58): Show |
T | intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0062 | 1 | 402 | 0.0025 | -65 | c.214 others(80): Show |
FRMD1 | ENSG00000153303.18 | transcript | ENST00000283309.11 | protein_coding | 1/10 | chr6 | TogoVar | ||||||
| FRMD1_chr6_168048095_168084212 | 168075871 | CCCGGTGT others(58): Show |
C | intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 402 | 0.0025 | -65 | c.214 others(80): Show |
FRMD1 | ENSG00000153303.18 | transcript | ENST00000283309.11 | protein_coding | 1/10 | chr6 | TogoVar | ||||||
| FRMPD4_chrX_12133473_12729523 | 12331676 | ATTATATA others(58): Show |
A | intron_variant | MODIFIER | HG02897.hp1 | a0002 | a0002c0010 | a0002c0010t0005 | a0002c0010t0005g0031 | 1 | 174 | 0.0058 | -65 | c.42- others(84): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| FRY_chr13_32026774_32304125 | 32042487 | CACAGCCT others(58): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp1 HG02451.hp1 others(13): Show |
a0001a0002a0008 | a0001c0002a0001c0033a0001c0046others(8): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(12): Show | a0001c0002t0001g0147a0001c0002t0002g0143a0001c0002t0004g0148others(13): Show | 16 | 236 | 0.0678 | -65 | c.70+ others(82): Show |
FRY | ENSG00000073910.23 | transcript | ENST00000542859.6 | protein_coding | 1/60 | chr13 | TogoVar | ||||||
| FUT10_chr8_33365824_33478146 | 33380122 | CACTATAT others(58): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG02886.hp1 HG02965.hp1 others(2): Show |
a0004 | a0004c0007 | a0004c0007t0001a0004c0007t0016 | a0004c0007t0001g0035a0004c0007t0001g0126a0004c0007t0001g0146others(2): Show | 5 | 268 | 0.0187 | -65 | c.121 others(84): Show |
FUT10 | ENSG00000172728.16 | transcript | ENST00000327671.10 | protein_coding | 4/4 | chr8 | TogoVar | ||||||
| G6PC2_chr2_168896291_168915000 | 168914668 | TGACACCA others(58): Show |
T | downstream_gene_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 425 | 0.0024 | -65 | c.*65 others(76): Show |
G6PC2 | ENSG00000152254.11 | transcript | ENST00000375363.8 | protein_coding | 4669 | chr2 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241805942 | TCCCCCCT others(58): Show |
T | downstream_gene_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0152 | 1 | 314 | 0.0032 | -65 | c.*17 others(76): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1656 | chr2 | TogoVar | ||||||
| GALNT15_chr3_16169680_16235165 | 16232461 | AATAAATA others(58): Show |
A | downstream_gene_variant | MODIFIER | HG01934.hp1 HG02055.hp1 NA18906.hp1 |
a0001a0003 | a0001c0022a0003c0034 | a0001c0022t0026a0001c0022t0027a0003c0034t0007 | a0001c0022t0026g0037a0001c0022t0027g0038a0003c0034t0007g0211 | 3 | 388 | 0.0077 | -65 | c.*49 others(76): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 2297 | chr3 | TogoVar | ||||||
| GCM1_chr6_53121961_53153841 | 53137480 | GTTAAAAC others(58): Show |
G | intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0107 | 1 | 412 | 0.0024 | -65 | c.76- others(80): Show |
GCM1 | ENSG00000137270.11 | transcript | ENST00000259803.8 | protein_coding | 2/5 | chr6 | TogoVar | ||||||
| GGT5_chr22_24214660_24250082 | 24238825 | ATATATAT others(58): Show |
A | intron_variant | MODIFIER | HG01261.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0294 | 1 | 420 | 0.0024 | -65 | c.174 others(82): Show |
GGT5 | ENSG00000099998.19 | transcript | ENST00000327365.10 | protein_coding | 1/11 | chr22 | TogoVar | ||||||
| GGT5_chr22_24214660_24250082 | 24238828 | TATATTTA others(58): Show |
T | intron_variant | MODIFIER | HG01261.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0335 | 1 | 420 | 0.0024 | -65 | c.174 others(82): Show |
GGT5 | ENSG00000099998.19 | transcript | ENST00000327365.10 | protein_coding | 1/11 | chr22 | TogoVar | ||||||
| GOLGA3_chr12_132763914_132833869 | 132787734 | CCCCTCCC others(58): Show |
C | intron_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0182 | 1 | 308 | 0.0033 | -65 | c.281 others(83): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 13/23 | chr12 | TogoVar | ||||||
| GOLGA3_chr12_132763914_132833869 | 132817905 | CCCCCCCC others(58): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00544.hp1 others(40): Show |
a0001a0003a0004others(5): Show | a0001c0001a0003c0004a0003c0008others(8): Show | a0001c0001t0001a0001c0001t0025a0003c0004t0001others(24): Show | a0001c0001t0001g0047a0001c0001t0025g0040a0003c0004t0001g0270others(40): Show | 43 | 308 | 0.1396 | -65 | c.134 others(82): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 2/23 | chr12 | TogoVar | ||||||
| GPSM2_chr1_108871985_108939545 | 108873384 | ATATATAT others(58): Show |
A | upstream_gene_variant | MODIFIER | HG01099.hp2 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0044 | 1 | 260 | 0.0039 | -65 | c.-40 others(76): Show |
GPSM2 | ENSG00000121957.15 | transcript | ENST00000264126.9 | protein_coding | 3600 | chr1 | TogoVar | ||||||
| GSG1L_chr16_27782528_28068714 | 27805178 | AGGAGGGC others(58): Show |
A | intron_variant | MODIFIER | HG01257.hp1 HG01496.hp1 HG01934.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0042 | a0001c0001t0003g0090a0001c0001t0003g0112a0001c0001t0003g0205others(2): Show | 5 | 240 | 0.0208 | -65 | c.898 others(82): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 6/6 | chr16 | TogoVar | ||||||
| HCN1_chr5_45249948_45701380 | 45375654 | TATAAGAT others(58): Show |
T | intron_variant | MODIFIER | HG01261.hp2 HG01891.hp1 HG02055.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0122a0001c0001t0005g0123a0001c0001t0005g0124others(7): Show | 10 | 226 | 0.0443 | -65 | c.123 others(86): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | ||||||
| HDAC10_chr22_50240183_50256265 | 50249430 | GCGGTGCC others(58): Show |
G | splice_acceptor_variant others(3): Show |
HIGH | NA19072.hp2 | a0009 | a0009c0025 | a0009c0025t0002 | a0009c0025t0002g0044 | 1 | 448 | 0.0022 | -65 | c.564 others(75): Show |
p.Val others(13): Show |
HDAC10 | ENSG00000100429.18 | transcript | ENST00000216271.10 | protein_coding | 7/20 | 820/2567 | 564/2010 | 188/669 | chr22 | TogoVar | ||
| HDAC4_chr2_239043168_239406020 | 239085783 | TGAAGGAG others(58): Show |
T | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0016 | a0001c0016t0003 | a0001c0016t0003g0029 | 1 | 242 | 0.0041 | -65 | c.244 others(84): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 19/26 | chr2 | TogoVar | ||||||
| HDAC4_chr2_239043168_239406020 | 239085978 | CGAAGGAG others(58): Show |
C | intron_variant | MODIFIER | HG02738.hp1 HG02738.hp2 |
a0001 | a0001c0001a0001c0026 | a0001c0001t0060a0001c0026t0001 | a0001c0001t0060g0084a0001c0026t0001g0036 | 2 | 242 | 0.0083 | -65 | c.244 others(84): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 19/26 | chr2 | TogoVar | ||||||
| HDAC4_chr2_239043168_239406020 | 239192185 | GGGTGAGG others(58): Show |
G | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0052 | 1 | 242 | 0.0041 | -65 | c.95- others(80): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 3/26 | chr2 | TogoVar | ||||||
| HES4_chr1_993964_1005097 | 996666 | CCCCCCGC others(58): Show |
C | downstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 396 | 0.0025 | -65 | c.*23 others(76): Show |
HES4 | ENSG00000188290.11 | transcript | ENST00000304952.11 | protein_coding | 2297 | chr1 | TogoVar | ||||||
| HLCS_chr21_36743626_36971669 | 36915723 | TCCGGCAT others(58): Show |
T | intron_variant | MODIFIER | HG03471.hp1 NA18522.hp2 |
a0002 | a0002c0002 | a0002c0002t0018a0002c0002t0043 | a0002c0002t0018g0153a0002c0002t0043g0152 | 2 | 258 | 0.0078 | -65 | c.162 others(86): Show |
HLCS | ENSG00000159267.17 | transcript | ENST00000674895.3 | protein_coding | 5/10 | chr21 | TogoVar | ||||||
| HOMER1_chr5_79367636_79519134 | 79427752 | CTTTCCTT others(58): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0001 | 1 | 290 | 0.0035 | -65 | c.527 others(84): Show |
HOMER1 | ENSG00000152413.15 | transcript | ENST00000334082.11 | protein_coding | 5/8 | chr5 | TogoVar | ||||||
| HOMEZ_chr14_23267422_23291132 | 23278582 | TCAAACTC others(58): Show |
T | intron_variant | MODIFIER | NA18991.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0221 | 1 | 394 | 0.0025 | -65 | c.41- others(80): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
| HOMEZ_chr14_23267422_23291132 | 23278755 | AGCCTCCG others(58): Show |
A | intron_variant | MODIFIER | NA19010.hp1 | a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0135 | 1 | 394 | 0.0025 | -65 | c.41- others(80): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
| IFNA4_chr9_21181618_21192587 | 21184268 | TCTTTCTT others(58): Show |
T | downstream_gene_variant | MODIFIER | HG03471.hp2 | a0009 | a0009c0007 | a0009c0007t0001 | a0009c0007t0001g0000 | 1 | 428 | 0.0023 | -65 | c.*26 others(76): Show |
IFNA4 | ENSG00000236637.5 | transcript | ENST00000421715.3 | protein_coding | 2349 | chr9 | TogoVar | ||||||
| IGF2R_chr6_159964082_160116504 | 160100723 | CCTTTTTT others(58): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01433.hp1 HG02735.hp1 others(3): Show |
a0001a0003 | a0001c0002a0003c0007a0003c0059 | a0001c0002t0007a0001c0002t0036a0001c0002t0056others(2): Show | a0001c0002t0007g0066a0001c0002t0036g0289a0001c0002t0036g0290others(3): Show | 6 | 310 | 0.0194 | -65 | c.684 others(84): Show |
IGF2R | ENSG00000197081.16 | transcript | ENST00000356956.6 | protein_coding | 45/47 | chr6 | TogoVar | ||||||
| IL1RAPL2_chrX_104561199_105772829 | 105307521 | ATTTTATA others(58): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02622.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0026a0001c0001t0001g0071a0001c0001t0001g0075others(2): Show | 5 | 141 | 0.0355 | -65 | c.697 others(84): Show |
IL1RAPL2 | ENSG00000189108.14 | transcript | ENST00000372582.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| IL2RG_chrX_71102404_71116577 | 71115163 | TTTATAGC others(58): Show |
T | upstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 283 | 0.0035 | -65 | c.-36 others(76): Show |
IL2RG | ENSG00000147168.14 | transcript | ENST00000374202.7 | protein_coding | 3587 | chrX | TogoVar | ||||||
| INPP5D_chr2_233055342_233212903 | 233065587 | CTTTCTTT others(58): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(199): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(199): Show | 202 | 310 | 0.6516 | -65 | c.134 others(82): Show |
INPP5D | ENSG00000168918.14 | transcript | ENST00000445964.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| IQGAP2_chr5_76398285_76713132 | 76436902 | TTATGTTA others(58): Show |
T | intron_variant | MODIFIER | HG00544.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0153 | 1 | 222 | 0.0045 | -65 | c.47- others(82): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| IRX6_chr16_55319203_55335756 | 55333885 | GGTTAAGT others(58): Show |
G | downstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 | 1 | 448 | 0.0022 | -65 | c.*35 others(76): Show |
IRX6 | ENSG00000159387.8 | transcript | ENST00000290552.8 | protein_coding | 3130 | chr16 | TogoVar | ||||||
| ISOC2_chr19_55447985_55466642 | 55450902 | GACAAGGG others(58): Show |
G | downstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0157 | 1 | 380 | 0.0026 | -65 | c.*23 others(76): Show |
ISOC2 | ENSG00000063241.8 | transcript | ENST00000425675.7 | protein_coding | 2082 | chr19 | TogoVar | ||||||
| ITGBL1_chr13_101447675_101721446 | 101515697 | AGTGAAAC others(58): Show |
A | intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0021 | a0002c0021t0002 | a0002c0021t0002g0293 | 1 | 306 | 0.0033 | -65 | c.317 others(84): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |