| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GOLGA3_chr12_132763914_132833869 | 132787556 | AGGACCCT others(167): Show |
A | intron_variant | MODIFIER | NA19240.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0029 | a0001c0001t0017g0001a0001c0001t0029g0304 | 2 | 308 | 0.0065 | -174 | c.281 others(17): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 13/23 | chr12 | TogoVar | ||||||
| GPSM1_chr9_136322539_136364601 | 136352110 | AATGCTGC others(167): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00597.hp1 others(31): Show |
a0000a0001 | a0000c0021a0001c0001a0001c0003others(3): Show | a0000c0021t0004a0001c0001t0004a0001c0001t0018others(5): Show | a0000c0021t0004g0256a0001c0001t0004g0026a0001c0001t0004g0042others(31): Show | 34 | 400 | 0.0850 | -174 | c.145 others(19): Show |
GPSM1 | ENSG00000160360.13 | transcript | ENST00000440944.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| GRIN1_chr9_137134154_137173756 | 137144727 | GGGGTGTG others(167): Show |
G | intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 298 | 0.0034 | -174 | c.394 others(15): Show |
GRIN1 | ENSG00000176884.17 | transcript | ENST00000371561.8 | protein_coding | 2/19 | chr9 | TogoVar | ||||||
| GRIN3A_chr9_101564352_101743647 | 101659358 | TGTATCTA others(167): Show |
T | intron_variant | MODIFIER | HG02129.hp2 | a0004 | a0004c0007 | a0004c0007t0012 | a0004c0007t0012g0263 | 1 | 324 | 0.0031 | -174 | c.235 others(21): Show |
GRIN3A | ENSG00000198785.7 | transcript | ENST00000361820.6 | protein_coding | 3/8 | chr9 | TogoVar | ||||||
| HDAC4_chr2_239043168_239406020 | 239184284 | TGGGGGGG others(167): Show |
T | intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0233 | 1 | 242 | 0.0041 | -174 | c.339 others(17): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 4/26 | chr2 | TogoVar | ||||||
| HEATR5A_chr14_31286788_31425550 | 31344670 | AATTTTCA others(167): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(257): Show |
a0001a0002a0005others(17): Show | a0001c0001a0001c0015a0001c0031others(20): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(37): Show | a0001c0001t0001g0016a0001c0001t0001g0021a0001c0001t0001g0022others(257): Show | 260 | 354 | 0.7345 | -174 | c.305 others(17): Show |
HEATR5A | ENSG00000129493.15 | transcript | ENST00000543095.7 | protein_coding | 20/35 | chr14 | TogoVar | ||||||
| INO80D_chr2_205988721_206091174 | 205988745 | TAACTAAA others(167): Show |
T | downstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0246 | 1 | 334 | 0.0030 | -174 | c.*15 others(13): Show |
INO80D | ENSG00000114933.16 | transcript | ENST00000403263.6 | protein_coding | 4975 | chr2 | TogoVar | ||||||
| ITGB5_chr3_124756948_124892365 | 124789366 | AACTAGAC others(167): Show |
A | intron_variant | MODIFIER | HG02717.hp2 HG02895.hp1 HG02897.hp2 others(3): Show |
a0001a0006 | a0001c0006a0006c0026 | a0001c0006t0002a0006c0026t0002 | a0001c0006t0002g0093a0001c0006t0002g0096a0001c0006t0002g0097others(3): Show | 6 | 352 | 0.0171 | -174 | c.169 others(19): Show |
ITGB5 | ENSG00000082781.12 | transcript | ENST00000296181.9 | protein_coding | 10/14 | chr3 | TogoVar | ||||||
| ITGB5_chr3_124756948_124892365 | 124789381 | ACAGAACC others(167): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(116): Show |
a0001a0003a0009others(1): Show | a0001c0001a0001c0006a0001c0012others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0021a0001c0001t0001g0053a0001c0001t0001g0054others(116): Show | 119 | 352 | 0.3381 | -174 | c.169 others(19): Show |
ITGB5 | ENSG00000082781.12 | transcript | ENST00000296181.9 | protein_coding | 10/14 | chr3 | TogoVar | ||||||
| ITGB5_chr3_124756948_124892365 | 124789903 | TCAGAACC others(167): Show |
T | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0013 | 1 | 352 | 0.0028 | -174 | c.169 others(19): Show |
ITGB5 | ENSG00000082781.12 | transcript | ENST00000296181.9 | protein_coding | 10/14 | chr3 | TogoVar | ||||||
| ITGB5_chr3_124756948_124892365 | 124790234 | CTGACTAG others(167): Show |
C | intron_variant | MODIFIER | HG03139.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0240a0001c0001t0002g0251 | 2 | 352 | 0.0057 | -174 | c.169 others(19): Show |
ITGB5 | ENSG00000082781.12 | transcript | ENST00000296181.9 | protein_coding | 10/14 | chr3 | TogoVar | ||||||
| JAKMIP3_chr10_132060946_132189858 | 132158643 | AGATGCTG others(167): Show |
A | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0042 | a0001c0042t0023 | a0001c0042t0023g0126 | 1 | 158 | 0.0063 | -174 | c.222 others(19): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| KCNIP4_chr4_20723606_21953772 | 21714786 | ATTATTTT others(167): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0017a0001c0001t0002g0021 | 2 | 80 | 0.0250 | -174 | c.61+ others(19): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
| KIF26B_chr1_245149985_245714432 | 245442787 | CAGCGGTC others(167): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0125 | 1 | 160 | 0.0063 | -174 | c.116 others(21): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| KIF26B_chr1_245149985_245714432 | 245442816 | CAGCGGTC others(167): Show |
C | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0149 | 1 | 160 | 0.0063 | -174 | c.116 others(21): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| LAT2_chr7_74205006_74234834 | 74214449 | TATATATG others(167): Show |
T | intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 344 | 0.0029 | -174 | c.-21 others(17): Show |
LAT2 | ENSG00000086730.17 | transcript | ENST00000460943.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| LBP_chr20_38341482_38382013 | 38378988 | GCCCCGTC others(167): Show |
G | downstream_gene_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0012 | a0002c0012t0001 | a0002c0012t0001g0342 | 1 | 394 | 0.0025 | -174 | c.*23 others(11): Show |
LBP | ENSG00000129988.6 | transcript | ENST00000217407.3 | protein_coding | 1976 | chr20 | TogoVar | ||||||
| LHPP_chr10_124456823_124619141 | 124507503 | GGGGATAG others(167): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG02300.hp1 HG02683.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0014a0003c0003t0002 | a0001c0001t0001g0024a0001c0001t0001g0087a0001c0001t0001g0109others(2): Show | 5 | 260 | 0.0192 | -174 | c.624 others(17): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| LIPG_chr18_49557057_49604185 | 49579001 | GGGGAGAG others(167): Show |
G | intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0002 | a0002c0002t0062 | a0002c0002t0062g0381 | 1 | 384 | 0.0026 | -174 | c.794 others(17): Show |
LIPG | ENSG00000101670.12 | transcript | ENST00000261292.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| LMF1_chr16_848634_975984 | 953477 | CCACCCCA others(167): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177a0001c0001t0001g0185 | 2 | 294 | 0.0068 | -174 | c.503 others(15): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
| LNPEP_chr5_96931080_97042513 | 97039912 | TTTACAAC others(167): Show |
T | downstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0337 | 1 | 352 | 0.0028 | -174 | c.*11 others(13): Show |
LNPEP | ENSG00000113441.16 | transcript | ENST00000231368.10 | protein_coding | 2400 | chr5 | TogoVar | ||||||
| LRRC24_chr8_144517388_144532033 | 144531859 | GGGCTAGA others(167): Show |
G | upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0007 | 1 | 398 | 0.0025 | -174 | c.-51 others(11): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4827 | chr8 | TogoVar | ||||||
| LRRC27_chr10_132327193_132386508 | 132358302 | GAGCGTGG others(167): Show |
G | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 290 | 0.0035 | -174 | c.117 others(19): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| MAD1L1_chr7_1810795_2237945 | 1930989 | CCACGGTC others(167): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01099.hp1 HG01243.hp2 others(29): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(4): Show | a0001c0001t0001g0145a0001c0001t0001g0151a0001c0001t0001g0152others(29): Show | 32 | 264 | 0.1212 | -174 | c.180 others(19): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | ||||||
| MLPH_chr2_237482251_237560322 | 237544989 | AATGGGGA others(167): Show |
A | intron_variant | MODIFIER | HG01433.hp2 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0014 | 1 | 286 | 0.0035 | -174 | c.154 others(19): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar | ||||||
| MPPED1_chr22_43407014_43512848 | 43495681 | AGATGGTG others(167): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0169 | 1 | 250 | 0.0040 | -174 | c.633 others(17): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| MS4A1_chr11_60450847_60475752 | 60451561 | TCCCCCGC others(167): Show |
T | upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 446 | 0.0022 | -174 | c.-46 others(11): Show |
MS4A1 | ENSG00000156738.18 | transcript | ENST00000345732.9 | protein_coding | 4285 | chr11 | TogoVar | ||||||
| MS4A5_chr11_60424572_60452792 | 60451561 | TCCCCCGC others(167): Show |
T | downstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 462 | 0.0022 | -174 | c.*38 others(11): Show |
MS4A5 | ENSG00000166930.7 | transcript | ENST00000300190.7 | protein_coding | 3770 | chr11 | TogoVar | ||||||
| MUC5AC_chr11_1152953_1206138 | 1166999 | GACACACA others(167): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG01099.hp2 HG01168.hp2 others(4): Show |
a0009a0016a0029others(1): Show | a0009c0020a0016c0029a0029c0081others(1): Show | a0009c0020t0002a0016c0029t0002a0029c0081t0002others(1): Show | a0009c0020t0002g0008a0016c0029t0002g0017a0016c0029t0002g0046others(2): Show | 7 | 292 | 0.0240 | -174 | c.138 others(17): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 11/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| MYO1B_chr2_191240404_191430386 | 191398207 | ACCATCCT others(167): Show |
A | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0058 | 1 | 170 | 0.0059 | -174 | c.229 others(19): Show |
MYO1B | ENSG00000128641.19 | transcript | ENST00000392318.8 | protein_coding | 21/30 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MYO1F_chr19_8515778_8582442 | 8543684 | GTGGTGGT others(167): Show |
G | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp1 HG02647.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0001 | a0001c0001t0001g0048a0001c0001t0001g0104a0001c0001t0001g0148others(5): Show | 8 | 342 | 0.0234 | -174 | c.152 others(17): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | ||||||
| MYO3B_chr2_170173147_170660167 | 170649088 | TATATAAT others(167): Show |
T | intron_variant | MODIFIER | NA19240.hp2 | a0006 | a0006c0058 | a0006c0058t0022 | a0006c0058t0022g0129 | 1 | 174 | 0.0058 | -174 | c.373 others(19): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 32/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| NDC80_chr18_2566557_2621635 | 2614483 | GGAAGGAA others(167): Show |
G | intron_variant | MODIFIER | HG01106.hp2 HG02559.hp2 HG03579.hp2 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0250a0003c0003t0001g0253a0003c0003t0001g0254others(2): Show | 5 | 402 | 0.0124 | -174 | c.179 others(19): Show |
NDC80 | ENSG00000080986.13 | transcript | ENST00000261597.9 | protein_coding | 16/16 | chr18 | TogoVar | ||||||
| NFATC1_chr18_79390930_79534323 | 79482921 | CTCCAGCG others(167): Show |
C | intron_variant | MODIFIER | HG00597.hp2 | a0004 | a0004c0020 | a0004c0020t0012 | a0004c0020t0012g0003 | 1 | 322 | 0.0031 | -174 | c.209 others(19): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| NFATC1_chr18_79390930_79534323 | 79482935 | CGTTCCTG others(167): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG01261.hp1 HG01496.hp1 others(8): Show |
a0001a0003 | a0001c0027a0001c0029a0001c0053others(1): Show | a0001c0027t0008a0001c0029t0004a0001c0053t0003others(3): Show | a0001c0027t0008g0013a0001c0027t0008g0030a0001c0029t0004g0098others(8): Show | 11 | 322 | 0.0342 | -174 | c.209 others(19): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| NOL10_chr2_10565754_10694975 | 10587054 | TACATATA others(167): Show |
T | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0354 | 1 | 372 | 0.0027 | -174 | c.184 others(19): Show |
NOL10 | ENSG00000115761.17 | transcript | ENST00000381685.10 | protein_coding | 19/20 | chr2 | TogoVar | ||||||
| NXN_chr17_794310_984776 | 984219 | GTTATAAG others(167): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00544.hp2 others(22): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0131a0001c0001t0001g0203a0001c0001t0001g0206others(22): Show | 25 | 242 | 0.1033 | -174 | c.-47 others(11): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 4444 | chr17 | TogoVar | ||||||
| OSBPL2_chr20_62233521_62301183 | 62270653 | CCCTCTCT others(167): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01358.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079a0001c0001t0002g0080 | 2 | 348 | 0.0058 | -174 | c.259 others(17): Show |
OSBPL2 | ENSG00000130703.17 | transcript | ENST00000313733.9 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| OTUD7A_chr15_31470398_31875673 | 31511392 | TATATATG others(167): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00735.hp2 HG00738.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0007a0001c0002t0045 | a0001c0001t0002g0189a0001c0001t0007g0096a0001c0002t0045g0065 | 3 | 244 | 0.0123 | -174 | c.894 others(17): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | ||||||
| OTUD7A_chr15_31470398_31875673 | 31511537 | CATATATG others(167): Show |
C | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0091 | 1 | 244 | 0.0041 | -174 | c.894 others(17): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | ||||||
| PAQR8_chr6_52357151_52412777 | 52407416 | TATTCTCA others(167): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0075 | a0001c0001t0075g0070 | 1 | 390 | 0.0026 | -174 | c.*31 others(11): Show |
PAQR8 | ENSG00000170915.9 | transcript | ENST00000442253.3 | protein_coding | 2/2 | 3143 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
| PDXK_chr21_43714129_43767299 | 43741164 | CGGGGGGG others(167): Show |
C | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0088 | a0001c0001t0088g0001 | 1 | 358 | 0.0028 | -174 | c.143 others(15): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PIP4K2A_chr10_22529854_22719578 | 22664060 | TACATATA others(167): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02809.hp1 HG03098.hp2 |
a0003 | a0003c0009 | a0003c0009t0011a0003c0009t0016 | a0003c0009t0011g0074a0003c0009t0011g0086a0003c0009t0016g0073 | 3 | 206 | 0.0146 | -174 | c.144 others(19): Show |
PIP4K2A | ENSG00000150867.14 | transcript | ENST00000376573.9 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
| POLDIP3_chr22_42578721_42619883 | 42579606 | GTGGCATG others(167): Show |
G | downstream_gene_variant | MODIFIER | HG02572.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0129a0001c0001t0013g0130 | 2 | 360 | 0.0056 | -174 | c.*60 others(11): Show |
POLDIP3 | ENSG00000100227.19 | transcript | ENST00000252115.10 | protein_coding | 4114 | chr22 | TogoVar | ||||||
| PPP6R2_chr22_50338327_50450090 | 50434532 | GGCGCGGA others(167): Show |
G | intron_variant | MODIFIER | HG02738.hp2 HG04184.hp2 NA18942.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0029a0001c0003t0002 | a0001c0001t0001g0255a0001c0001t0001g0315a0001c0001t0029g0238others(2): Show | 5 | 340 | 0.0147 | -174 | c.140 others(17): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| PPP6R2_chr22_50338327_50450090 | 50434560 | TTTGCCCT others(167): Show |
T | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 340 | 0.0029 | -174 | c.140 others(17): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| PRKCA_chr17_66297613_66815743 | 66799052 | ATGGTGGT others(167): Show |
A | intron_variant | MODIFIER | HG02004.hp2 NA18950.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0010 | a0001c0001t0007g0029a0001c0002t0010g0068 | 2 | 178 | 0.0112 | -174 | c.185 others(19): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| PRKCA_chr17_66297613_66815743 | 66799371 | TGGTGGTG others(167): Show |
T | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0011 | 1 | 178 | 0.0056 | -174 | c.185 others(19): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| PRKCZ_chr1_2045411_2190395 | 2106584 | CAGTGGGC others(167): Show |
C | intron_variant | MODIFIER | HG02165.hp2 NA18956.hp1 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0037a0001c0004t0002g0038 | 2 | 286 | 0.0070 | -174 | c.335 others(19): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | chr1 | TogoVar | ||||||
| PRKCZ_chr1_2045411_2190395 | 2106585 | AGTGGGCG others(167): Show |
A | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 1 | 286 | 0.0035 | -174 | c.335 others(19): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |