| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ADAMTSL5_chr19_1500022_1518019 | 1500856 | A | AGGGAGGA others(340): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0150 | 1 | 352 | 0.0028 | 347 | c.*51 others(358): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 4165 | chr19 | TogoVar | ||||||
| ADCY2_chr5_7391138_7835081 | 7431603 | T | TTCAAGGG others(340): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0004 | a0002c0004t0007 | a0002c0004t0007g0105 | 1 | 140 | 0.0071 | 347 | c.408 others(366): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ADGRB3_chr6_68630282_69394506 | 68932876 | T | TAAGAATT others(340): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 120 | 0.0083 | 347 | c.868 others(364): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| ADPRHL1_chr13_113394611_113458488 | 113419014 | T | CCCTTCCT others(340): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0006 | a0006c0007 | a0006c0007t0013 | a0006c0007t0013g0056 | 1 | 262 | 0.0038 | 347 | c.106 others(366): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
| AGMO_chr7_15195317_15567015 | 15530382 | C | CCATATAT others(340): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0003 | a0003c0009 | a0003c0009t0007 | a0003c0009t0007g0005 | 1 | 236 | 0.0042 | 347 | c.409 others(366): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
| AGPS_chr2_177387773_177548834 | 177486726 | G | GCTATATG others(340): Show |
intron_variant | MODIFIER | NA20752.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169a0001c0001t0001g0193 | 2 | 258 | 0.0078 | 347 | c.123 others(366): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| AGPS_chr2_177387773_177548834 | 177486726 | G | GCTATATG others(340): Show |
intron_variant | MODIFIER | HG01256.hp1 HG02027.hp1 NA18972.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0038 | a0001c0001t0001g0131a0001c0001t0001g0194a0001c0001t0038g0181 | 3 | 258 | 0.0116 | 347 | c.123 others(366): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| AHRR_chr5_316714_443285 | 397254 | A | ATCCACGT others(340): Show |
intron_variant | MODIFIER | HG02451.hp1 NA18906.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0256a0002c0002t0001g0255 | 2 | 268 | 0.0075 | 347 | c.352 others(366): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| AHRR_chr5_316714_443285 | 397254 | A | ATCCACGT others(340): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00735.hp2 HG01081.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0060a0002c0002t0001 | a0001c0001t0003g0258a0001c0001t0003g0259a0001c0001t0003g0260others(3): Show | 6 | 268 | 0.0224 | 347 | c.352 others(366): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| AKT3_chr1_243494724_243855243 | 243525837 | G | GGGAGGAG others(340): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0020 | 1 | 301 | 0.0033 | 347 | c.125 others(368): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
| AKT3_chr1_243494724_243855243 | 243525837 | G | GGGAGGAG others(340): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 301 | 0.0033 | 347 | c.125 others(368): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
| ALKBH8_chr11_107497727_107570735 | 107537719 | C | CGGCCGGG others(340): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 400 | 0.0025 | 347 | c.772 others(364): Show |
ALKBH8 | ENSG00000137760.15 | transcript | ENST00000428149.7 | protein_coding | 7/11 | chr11 | TogoVar | ||||||
| ANXA2_chr15_60342151_60402986 | 60365044 | A | ATGGCAGT others(340): Show |
intron_variant | MODIFIER | HG03195.hp2 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088a0001c0001t0001g0226 | 2 | 334 | 0.0060 | 347 | c.149 others(362): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 3/12 | chr15 | TogoVar | ||||||
| ARFRP1_chr20_63693647_63712976 | 63693732 | T | TCCACCTC others(340): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 296 | 0.0034 | 347 | c.*67 others(358): Show |
ARFRP1 | ENSG00000101246.20 | transcript | ENST00000622789.5 | protein_coding | 4914 | chr20 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144531253 | G | GCAGCAGG others(340): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 246 | 0.0041 | 347 | c.298 others(364): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 10/11 | chr8 | TogoVar | ||||||
| ARHGAP8_chr22_44747575_44867784 | 44813921 | T | TAAGAGGT others(340): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0351 | 1 | 390 | 0.0026 | 347 | c.300 others(362): Show |
ARHGAP8 | ENSG00000241484.10 | transcript | ENST00000356099.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| ARHGEF10_chr8_1818926_1963641 | 1825174 | C | CCACCTGT others(340): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0033 | 1 | 363 | 0.0028 | 347 | c.-48 others(364): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ARMS2_chr10_122449653_122462352 | 122451460 | A | ATTTCAGT others(340): Show |
upstream_gene_variant | MODIFIER | NA18975.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 1 | 424 | 0.0024 | 347 | c.-32 others(358): Show |
ARMS2 | ENSG00000254636.1 | transcript | ENST00000528446.1 | protein_coding | 3192 | chr10 | TogoVar | ||||||
| ASAH1_chr8_18050992_18089107 | 18085612 | T | TAAATAAG others(340): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG01257.hp2 HG01952.hp1 others(7): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0004a0001c0001t0021a0002c0002t0003others(1): Show | a0001c0001t0004g0010a0001c0001t0004g0011a0001c0001t0004g0065others(6): Show | 10 | 420 | 0.0238 | 347 | c.-15 others(358): Show |
ASAH1 | ENSG00000104763.20 | transcript | ENST00000637790.2 | protein_coding | 1506 | chr8 | TogoVar | ||||||
| ASTN2_chr9_116418112_117420057 | 116840551 | G | GGGGGCTG others(340): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02559.hp1 HG03139.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0006a0001c0001t0007a0001c0003t0007others(1): Show | a0001c0001t0006g0079a0001c0001t0007g0078a0001c0001t0007g0087others(2): Show | 5 | 102 | 0.0490 | 347 | c.204 others(368): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 11/22 | chr9 | TogoVar | ||||||
| ATG2B_chr14_96274195_96368341 | 96340148 | A | AATATATA others(340): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0126 | 1 | 356 | 0.0028 | 347 | c.924 others(364): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 6/41 | chr14 | TogoVar | ||||||
| ATP11A_chr13_112685038_112892168 | 112714047 | G | GACCCCTG others(340): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01123.hp2 HG01496.hp1 others(18): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0008others(15): Show | a0001c0001t0001g0065a0001c0001t0001g0152a0001c0001t0001g0219others(18): Show | 21 | 254 | 0.0827 | 347 | c.39+ others(364): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP11A_chr13_112685038_112892168 | 112714047 | G | GACCCCTG others(340): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03130.hp1 NA20300.hp1 |
a0001 | a0001c0001a0001c0004a0001c0042 | a0001c0001t0001a0001c0004t0003a0001c0042t0044 | a0001c0001t0001g0146a0001c0004t0003g0149a0001c0042t0044g0148 | 3 | 254 | 0.0118 | 347 | c.39+ others(364): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP11A_chr13_112685038_112892168 | 112714047 | G | GACCCCTG others(340): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02056.hp1 NA18971.hp2 |
a0001a0014 | a0001c0002a0001c0040a0014c0023 | a0001c0002t0012a0001c0040t0001a0014c0023t0002 | a0001c0002t0012g0252a0001c0040t0001g0216a0014c0023t0002g0064 | 3 | 254 | 0.0118 | 347 | c.39+ others(364): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP11A_chr13_112685038_112892168 | 112723285 | T | TCCCCACC others(340): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0170 | 1 | 254 | 0.0039 | 347 | c.39+ others(364): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| AUH_chr9_91208823_91366918 | 91347963 | T | TAAAAAAC others(340): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 358 | 0.0028 | 347 | c.418 others(364): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
| AXIN1_chr16_282440_357723 | 285897 | G | GGTTCTCC others(340): Show |
downstream_gene_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0061 | 1 | 378 | 0.0027 | 347 | c.*22 others(358): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1542 | chr16 | TogoVar | ||||||
| B3GLCT_chr13_31194975_31337276 | 31335853 | G | GAAAAAAA others(340): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0171 | 1 | 268 | 0.0037 | 347 | c.*61 others(358): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 3578 | chr13 | TogoVar | ||||||
| BAIAP3_chr16_1328645_1354439 | 1340158 | A | ACACAGGC others(340): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0078 | 1 | 358 | 0.0028 | 347 | c.408 others(362): Show |
BAIAP3 | ENSG00000007516.15 | transcript | ENST00000426824.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| BCOR_chrX_40046251_40102958 | 40080061 | C | CAAGAAAA others(340): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 | 1 | 257 | 0.0039 | 347 | c.-40 others(364): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 1/14 | chrX | TogoVar | ||||||
| BCOR_chrX_40046251_40102958 | 40080061 | C | CAAGAAAA others(340): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 1 | 257 | 0.0039 | 347 | c.-40 others(364): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 1/14 | chrX | TogoVar | ||||||
| C2CD4C_chr19_400445_414147 | 403995 | T | TGTGGGGG others(340): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0110 | a0001c0001t0110g0090 | 1 | 322 | 0.0031 | 347 | c.*31 others(358): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1449 | chr19 | TogoVar | ||||||
| C8orf82_chr8_144520733_144534111 | 144531253 | G | GCAGCAGG others(340): Show |
upstream_gene_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 398 | 0.0025 | 347 | c.-23 others(358): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2143 | chr8 | TogoVar | ||||||
| C9orf85_chr9_71906639_71978457 | 71929860 | T | TAAACTTA others(340): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 250 | 0.0040 | 347 | c.103 others(366): Show |
C9orf85 | ENSG00000155621.15 | transcript | ENST00000334731.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CACNA1H_chr16_1148106_1226768 | 1185667 | G | GGAGGCGG others(340): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0007 | a0007c0005 | a0007c0005t0008 | a0007c0005t0008g0257 | 1 | 338 | 0.0030 | 347 | c.300 others(364): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CACNA1H_chr16_1148106_1226768 | 1185667 | G | GGGGGCGG others(340): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 |
a0021 | a0021c0034 | a0021c0034t0003 | a0021c0034t0003g0002 | 2 | 338 | 0.0059 | 347 | c.300 others(364): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CACNG3_chr16_24251335_24367412 | 24336650 | G | GCCAAGGT others(340): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 | 1 | 366 | 0.0027 | 347 | c.212 others(366): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | chr16 | TogoVar | ||||||
| CALD1_chr7_134774634_134975729 | 134786423 | G | GGAAATTT others(340): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0119 | 1 | 262 | 0.0038 | 347 | c.-13 others(366): Show |
CALD1 | ENSG00000122786.20 | transcript | ENST00000361675.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CALHM5_chr6_116506639_116529788 | 116522977 | T | TAAAATGT others(340): Show |
3_prime_UTR_variant | MODIFIER | HG00673.hp1 HG01934.hp2 HG02040.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0052a0001c0001t0116a0001c0001t0125others(5): Show | a0001c0001t0052g0002a0001c0001t0116g0002a0001c0001t0125g0002others(5): Show | 9 | 402 | 0.0224 | 347 | c.*70 others(358): Show |
CALHM5 | ENSG00000178033.6 | transcript | ENST00000368599.4 | protein_coding | 2/2 | 7005 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
| CAMK2B_chr7_44212154_44330594 | 44328554 | A | AGTGATGG others(340): Show |
upstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0136 | 1 | 242 | 0.0041 | 347 | c.-31 others(358): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 2961 | chr7 | TogoVar | ||||||
| CAND2_chr3_12791680_12839803 | 12792632 | G | GCTAATTT others(340): Show |
upstream_gene_variant | MODIFIER | NA19030.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0114 | 1 | 378 | 0.0027 | 347 | c.-40 others(358): Show |
CAND2 | ENSG00000144712.13 | transcript | ENST00000456430.6 | protein_coding | 4047 | chr3 | TogoVar | ||||||
| CAPN11_chr6_44153820_44189401 | 44181824 | C | CCACACTC others(340): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03195.hp1 HG03471.hp1 |
a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0429a0005c0006t0002g0430a0005c0006t0002g0431 | 3 | 460 | 0.0065 | 347 | c.193 others(364): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CBX5_chr12_54225942_54285122 | 54238557 | T | TAAAAATT others(340): Show |
3_prime_UTR_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0314 | 1 | 368 | 0.0027 | 347 | c.*31 others(358): Show |
CBX5 | ENSG00000094916.16 | transcript | ENST00000209875.9 | protein_coding | 5/5 | 3197 | chr12 | TogoVar | |||||
| CCDC88C_chr14_91266323_91422820 | 91352555 | C | CAAAATGC others(340): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0007 | a0001c0007t0009 | a0001c0007t0009g0067 | 1 | 284 | 0.0035 | 347 | c.340 others(364): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 4/29 | chr14 | TogoVar | ||||||
| CCNC_chr6_99537387_99573660 | 99550659 | A | ATAATCTA others(340): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 410 | 0.0024 | 347 | c.438 others(362): Show |
CCNC | ENSG00000112237.13 | transcript | ENST00000520429.6 | protein_coding | 7/11 | chr6 | TogoVar | ||||||
| CCSER1_chr4_90122394_91610295 | 90372928 | T | TAAAGAAA others(340): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0033 | 1 | 38 | 0.0263 | 347 | c.151 others(368): Show |
CCSER1 | ENSG00000184305.16 | transcript | ENST00000509176.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CD163L1_chr12_7349960_7449153 | 7404370 | T | TTCTCATA others(340): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0322 | 1 | 384 | 0.0026 | 347 | c.108 others(364): Show |
CD163L1 | ENSG00000177675.9 | transcript | ENST00000313599.8 | protein_coding | 5/19 | chr12 | TogoVar | ||||||
| CDH4_chr20_61247261_61945617 | 61565358 | G | GGGAGGTG others(340): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0006 | a0001c0006t0049 | a0001c0006t0049g0071 | 1 | 106 | 0.0094 | 347 | c.170 others(368): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CDYL2_chr16_80592907_80809598 | 80663084 | T | TAAAAAAA others(340): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0089 | 1 | 258 | 0.0039 | 347 | c.616 others(366): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
| CENPH_chr5_69184583_69215357 | 69204071 | A | ATAGAATA others(340): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 388 | 0.0026 | 347 | c.487 others(364): Show |
CENPH | ENSG00000153044.10 | transcript | ENST00000283006.7 | protein_coding | 7/8 | chr5 | TogoVar |