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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PATJ_chr1_61737480_62168915 | 62137609 | G | GACACAGA others(371): Show |
intron_variant | MODIFIER | HG02040.hp2 NA19056.hp2 |
a0007a0018 | a0007c0006a0018c0112 | a0007c0006t0002a0018c0112t0002 | a0007c0006t0002g0036 a0018c0112t0002g0007 |
2 | 5 | 0.4000 | 378 | c.527 others(397): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 41/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 62137609 | G | GACACAGA others(371): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01109.hp1 HG01192.hp2 others(31): Show |
a0001a0002a0004others(18): Show | a0001c0001a0001c0021a0002c0029others(29): Show | a0001c0001t0002a0001c0021t0002a0002c0029t0002others(29): Show | a0001c0001t0002g0020 a0001c0021t0002g0071 a0002c0029t0002g0132 others(31): Show |
34 | 37 | 0.9189 | 378 | c.527 others(397): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 41/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 62137609 | G | GACACAGA others(371): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG01071.hp2 others(21): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0008a0001c0022others(19): Show | a0001c0001t0003a0001c0008t0002a0001c0022t0020others(19): Show | a0001c0001t0003g0028 a0001c0001t0003g0151 a0001c0008t0002g0135 others(21): Show |
24 | 27 | 0.8889 | 378 | c.527 others(397): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 41/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 62137609 | G | GACACAGA others(371): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0021 | a0021c0033 | a0021c0033t0003 | a0021c0033t0003g0080 | 1 | 4 | 0.2500 | 378 | c.527 others(397): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 41/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 62137609 | G | GACACAGA others(371): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG01074.hp1 others(10): Show |
a0002a0003a0004others(6): Show | a0002c0049a0002c0106a0003c0003others(8): Show | a0002c0049t0001a0002c0106t0001a0003c0003t0001others(8): Show | a0002c0049t0001g0073 a0002c0106t0001g0060 a0003c0003t0001g0016 others(10): Show |
13 | 16 | 0.8125 | 378 | c.527 others(397): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 41/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45746581 | G | GGTGTGGT others(371): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0290 | 1 | 272 | 0.0037 | 378 | c.-16 others(397): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 318069 | T | TCCCTTGC others(371): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 NA18950.hp1 NA18975.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0250 |
3 | 120 | 0.0250 | 378 | c.*35 others(389): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3096 | chr5 | TogoVar | |||||||
PDXK_chr21_43714129_43767299 | 43741350 | G | GGGGGGCT others(371): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 296 | 0.0034 | 378 | c.143 others(393): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PGAM5_chr12_132705842_132727734 | 132718398 | A | AGTGGGGT others(371): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0192 | 1 | 368 | 0.0027 | 378 | c.719 others(393): Show |
PGAM5 | ENSG00000247077.8 | transcript | ENST00000498926.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PIM1_chr6_37165152_37180428 | 37179381 | T | TATATTAT others(371): Show |
downstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 411 | 0.0024 | 378 | c.*52 others(389): Show |
PIM1 | ENSG00000137193.14 | transcript | ENST00000373509.6 | protein_coding | 3954 | chr6 | TogoVar | |||||||
PITPNM3_chr17_6446263_6561555 | 6455726 | A | AGGGGAGG others(371): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0180 | 1 | 215 | 0.0047 | 378 | c.262 others(393): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 19/19 | chr17 | TogoVar | |||||||
PLEKHN1_chr1_961482_980865 | 964668 | G | GCGGGTCC others(371): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0009 | a0001c0009t0009 | a0001c0009t0009g0016 | 1 | 419 | 0.0024 | 378 | c.-18 others(389): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1813 | chr1 | TogoVar | |||||||
PLPP1_chr5_55419854_55539964 | 55433460 | T | TTCAGTAA others(371): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 78 | 0.0128 | 378 | c.550 others(395): Show |
PLPP1 | ENSG00000067113.17 | transcript | ENST00000307259.9 | protein_coding | 4/5 | chr5 | TogoVar | |||||||
PLPP2_chr19_276043_296403 | 291612 | G | GGGGGGGA others(371): Show |
upstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 113 | 0.0088 | 378 | c.-27 others(387): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 210 | chr19 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(371): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 82 | 0.0122 | 378 | c.147 others(395): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
PRKCZ_chr1_2045411_2190395 | 2122498 | C | CAGCGATA others(371): Show |
intron_variant | MODIFIER | HG03654.hp2 NA20752.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0203 a0001c0003t0001g0196 |
2 | 167 | 0.0120 | 378 | c.335 others(397): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
PRKCZ_chr1_2045411_2190395 | 2123653 | A | AGGATCAT others(371): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0062 | 1 | 277 | 0.0036 | 378 | c.335 others(397): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2124289 | A | AGGGTCAA others(371): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0203 | 1 | 169 | 0.0059 | 378 | c.335 others(397): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113161802 | T | TCACATCC others(371): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0204 | 1 | 364 | 0.0027 | 378 | c.259 others(393): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113161840 | G | GTCCCCAC others(371): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0270 | 1 | 361 | 0.0028 | 378 | c.259 others(393): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113161930 | C | CCATCCTC others(371): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0239 | 1 | 78 | 0.0128 | 378 | c.259 others(393): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162050 | G | GTCCCCTC others(371): Show |
intron_variant | MODIFIER | NA18941.hp2 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145 a0001c0001t0002g0199 |
2 | 245 | 0.0082 | 378 | c.260 others(393): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162134 | G | GTCCCCAC others(371): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0248 | 1 | 191 | 0.0052 | 378 | c.260 others(393): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162134 | G | GTCCCCAC others(371): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00609.hp1 HG02083.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 a0001c0001t0002g0041 a0001c0001t0002g0249 others(5): Show |
11 | 201 | 0.0547 | 378 | c.260 others(393): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162140 | A | ACATCCTC others(371): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 324 | 0.0031 | 378 | c.260 others(393): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162182 | A | CCATCCTC others(371): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0185 | 1 | 338 | 0.0030 | 378 | c.260 others(393): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | chr13 | TogoVar | |||||||
PROZ_chr13_113153648_113177386 | 113162218 | G | GTCCCCAC others(371): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01433.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0090 a0002c0003t0001g0093 |
2 | 294 | 0.0068 | 378 | c.260 others(393): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162224 | C | CCATCCTC others(371): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0227 | 1 | 146 | 0.0068 | 378 | c.260 others(393): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162344 | C | CTCCTCAC others(371): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0220 | 1 | 312 | 0.0032 | 378 | c.260 others(393): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162344 | C | CTCCTCAC others(371): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0215 | 1 | 312 | 0.0032 | 378 | c.260 others(393): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162392 | T | TCATCCTC others(371): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0183 | 1 | 59 | 0.0169 | 378 | c.260 others(393): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(371): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02572.hp2 HG03139.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0004others(3): Show | a0001c0001t0001g0097 a0001c0002t0001g0098 a0001c0004t0004g0263 others(4): Show |
7 | 49 | 0.1429 | 378 | c.-12 others(399): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RAB7B_chr1_205971740_206008395 | 205985737 | C | CCCCACCA others(371): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 119 | 0.0084 | 378 | c.397 others(391): Show |
RAB7B | ENSG00000276600.5 | transcript | ENST00000617070.5 | protein_coding | 4/5 | chr1 | TogoVar | |||||||
RAD21L1_chr20_1221044_1260876 | 1258613 | C | CAAACACA others(371): Show |
downstream_gene_variant | MODIFIER | HG03579.hp1 | a0006 | a0006c0007 | a0006c0007t0003 | a0006c0007t0003g0068 | 1 | 185 | 0.0054 | 378 | c.*41 others(389): Show |
RAD21L1 | ENSG00000244588.6 | transcript | ENST00000683101.1 | protein_coding | 2738 | chr20 | TogoVar | |||||||
RAD21L1_chr20_1221044_1260876 | 1258679 | A | ACACATAA others(371): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG02976.hp1 |
a0005 | a0005c0006 | a0005c0006t0001a0005c0006t0003 | a0005c0006t0001g0031 a0005c0006t0003g0031 |
2 | 82 | 0.0244 | 378 | c.*42 others(389): Show |
RAD21L1 | ENSG00000244588.6 | transcript | ENST00000683101.1 | protein_coding | 2804 | chr20 | TogoVar | |||||||
RAD21L1_chr20_1221044_1260876 | 1258679 | A | ACACATAA others(371): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0069 | 1 | 81 | 0.0123 | 378 | c.*42 others(389): Show |
RAD21L1 | ENSG00000244588.6 | transcript | ENST00000683101.1 | protein_coding | 2804 | chr20 | TogoVar | |||||||
RANBP10_chr16_67718070_67811560 | 67782758 | T | TCACTTTT others(371): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02647.hp2 HG03486.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0099 others(2): Show |
5 | 45 | 0.1111 | 378 | c.348 others(397): Show |
RANBP10 | ENSG00000141084.12 | transcript | ENST00000317506.8 | protein_coding | 2/13 | chr16 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114075997 | G | GGCGCCGC others(371): Show |
intron_variant | MODIFIER | HG00639.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 |
2 | 66 | 0.0303 | 378 | c.56- others(393): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RASGRF1_chr15_78954906_79095780 | 79092222 | A | ACCCCCCC others(371): Show |
upstream_gene_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 310 | 0.0032 | 378 | c.-17 others(389): Show |
RASGRF1 | ENSG00000058335.16 | transcript | ENST00000558480.7 | protein_coding | 1443 | chr15 | TogoVar | |||||||
RBCK1_chr20_403299_437139 | 420665 | G | GCCCACCC others(371): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 a0001c0001t0001g0217 |
2 | 63 | 0.0317 | 378 | c.757 others(393): Show |
RBCK1 | ENSG00000125826.22 | transcript | ENST00000356286.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RFTN1_chr3_16310845_16518699 | 16404258 | T | TATTTTAT others(371): Show |
intron_variant | MODIFIER | HG01358.hp2 HG01978.hp1 HG02572.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0007a0002c0003t0004 | a0001c0001t0001g0018 a0001c0001t0001g0075 a0001c0002t0007g0049 others(1): Show |
4 | 263 | 0.0152 | 378 | c.441 others(395): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
RNF139_chr8_124469880_124493618 | 124483113 | A | AATATATA others(371): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0140 | 1 | 6 | 0.1667 | 378 | c.182 others(395): Show |
RNF139 | ENSG00000170881.5 | transcript | ENST00000303545.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RNF17_chr13_24759169_24884921 | 24881962 | C | CTAGATAG others(371): Show |
downstream_gene_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0058 | 1 | 194 | 0.0052 | 378 | c.*22 others(389): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 2042 | chr13 | TogoVar | |||||||
RNF17_chr13_24759169_24884921 | 24881980 | C | CTATATAG others(371): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0077 | 1 | 156 | 0.0064 | 378 | c.*22 others(389): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 2060 | chr13 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80743965 | C | CCCTGGTT others(371): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0085 | a0001c0085t0003 | a0001c0085t0003g0162 | 1 | 176 | 0.0057 | 378 | c.655 others(397): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80744052 | C | CTGTCCTG others(371): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0086 | a0001c0086t0004 | a0001c0086t0004g0172 | 1 | 186 | 0.0054 | 378 | c.655 others(395): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | chr17 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80744073 | T | TCCTGGTT others(371): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0018 | a0001c0018t0017 | a0001c0018t0017g0141 | 1 | 168 | 0.0060 | 378 | c.655 others(395): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80744523 | C | CCCTGGTT others(371): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0023 | a0001c0023t0007 | a0001c0023t0007g0132 | 1 | 159 | 0.0063 | 378 | c.655 others(395): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80744619 | T | TTACGAGC others(371): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0008 | a0001c0008t0081 | a0001c0008t0081g0019 | 1 | 150 | 0.0067 | 378 | c.655 others(395): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80744677 | T | TAGCACTG others(371): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01496.hp1 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0002a0001c0013t0013 | a0001c0001t0002g0038 a0001c0013t0013g0064 |
2 | 153 | 0.0131 | 378 | c.655 others(395): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |