| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NRCAM_chr7_108142649_108461436 | 108164029 | G | GTGAGAGG others(234): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0107 | 1 | 208 | 0.0048 | 241 | c.346 others(260): Show |
NRCAM | ENSG00000091129.22 | transcript | ENST00000379028.8 | protein_coding | 30/32 | chr7 | TogoVar | ||||||
| NXN_chr17_794310_984776 | 949198 | C | CCCCCTGC others(234): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0233 | 1 | 242 | 0.0041 | 241 | c.360 others(260): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
| OR3A2_chr17_3271177_3391308 | 3327954 | C | CTTGTAGT others(234): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01517.hp1 HG02647.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0010a0002c0002t0004 | a0001c0001t0010g0299a0001c0001t0010g0300a0002c0002t0004g0286others(2): Show | 5 | 318 | 0.0157 | 241 | c.-27 others(260): Show |
OR3A2 | ENSG00000221882.5 | transcript | ENST00000573901.3 | protein_coding | 2/4 | chr17 | TogoVar | ||||||
| OR4F17_chr19_102104_118156 | 107943 | A | AATATAAT others(234): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 227 | 0.0044 | 241 | c.-55 others(256): Show |
OR4F17 | ENSG00000176695.8 | transcript | ENST00000585993.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| OR51T1_chr11_4876900_4887883 | 4886717 | C | CAAAAGAC others(234): Show |
downstream_gene_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 1 | 426 | 0.0024 | 241 | c.*38 others(252): Show |
OR51T1 | ENSG00000176900.2 | transcript | ENST00000322049.1 | protein_coding | 3835 | chr11 | TogoVar | ||||||
| OR51T1_chr11_4876900_4887883 | 4886717 | C | CAAAAGAC others(234): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00423.hp1 others(31): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0000a0005c0006t0000 | a0001c0001t0000g0000a0005c0006t0000g0000 | 34 | 426 | 0.0798 | 241 | c.*38 others(252): Show |
OR51T1 | ENSG00000176900.2 | transcript | ENST00000322049.1 | protein_coding | 3835 | chr11 | TogoVar | ||||||
| P2RY8_chrX_1457581_1542185 | 1459533 | C | CTGTCTAT others(234): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 HG02809.hp2 HG02897.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0003g0066a0001c0001t0003g0069a0001c0001t0005g0011others(5): Show | 8 | 114 | 0.0702 | 241 | c.*59 others(252): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 3047 | chrX | TogoVar | ||||||
| PAK1_chr11_77317017_77479094 | 77332356 | A | AGGGAAGG others(234): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0234 | 1 | 302 | 0.0033 | 241 | c.155 others(258): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 14/14 | chr11 | TogoVar | ||||||
| PAK2_chr3_196734857_196837647 | 196811197 | T | TCCTCCCT others(234): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 178 | 0.0056 | 241 | c.773 others(256): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PALD1_chr10_70473767_70573450 | 70554954 | C | CCCCTCCC others(234): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 308 | 0.0033 | 241 | c.226 others(260): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PALD1_chr10_70473767_70573450 | 70554954 | C | CCCTCCCC others(234): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0014 | a0014c0019 | a0014c0019t0012 | a0014c0019t0012g0233 | 1 | 308 | 0.0033 | 241 | c.226 others(260): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PAOX_chr10_133374262_133396694 | 133379173 | G | GCCCCTCC others(234): Show |
upstream_gene_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0141 | 1 | 346 | 0.0029 | 241 | c.-14 others(250): Show |
PAOX | ENSG00000148832.16 | transcript | ENST00000278060.10 | protein_coding | 88 | chr10 | TogoVar | ||||||
| PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(234): Show |
downstream_gene_variant | MODIFIER | HG02738.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0024a0001c0001t0002g0024 | 2 | 400 | 0.0050 | 241 | c.*70 others(252): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | ||||||
| PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(234): Show |
downstream_gene_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 400 | 0.0050 | 241 | c.*70 others(252): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | ||||||
| PCLO_chr7_82749012_83167884 | 82999572 | A | ATAATATG others(234): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0007 | a0007c0008 | a0007c0008t0003 | a0007c0008t0003g0182a0007c0008t0003g0184 | 2 | 188 | 0.0106 | 241 | c.330 others(262): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
| PCLO_chr7_82749012_83167884 | 82999623 | A | ATAATATG others(234): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0018 | a0001c0018t0003 | a0001c0018t0003g0018 | 1 | 188 | 0.0053 | 241 | c.330 others(262): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
| PCSK6_chr15_101298933_101494707 | 101493369 | T | TTCCCTCC others(234): Show |
upstream_gene_variant | MODIFIER | HG02976.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0234a0001c0001t0002g0248 | 2 | 336 | 0.0060 | 241 | c.-37 others(252): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 3663 | chr15 | TogoVar | ||||||
| PDZRN4_chr12_41183320_41579745 | 41453906 | T | TAAAATTT others(234): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0182 | 1 | 206 | 0.0049 | 241 | c.844 others(260): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PDZRN4_chr12_41183320_41579745 | 41453906 | T | TAAAATTT others(234): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03209.hp2 |
a0002a0018 | a0002c0016a0018c0035 | a0002c0016t0001a0018c0035t0001 | a0002c0016t0001g0101a0018c0035t0001g0094 | 2 | 206 | 0.0097 | 241 | c.844 others(260): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PDZRN4_chr12_41183320_41579745 | 41453906 | T | TAAAATTT others(234): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02280.hp1 |
a0004a0022 | a0004c0003a0022c0038 | a0004c0003t0001a0022c0038t0001 | a0004c0003t0001g0003a0022c0038t0001g0158 | 2 | 206 | 0.0097 | 241 | c.844 others(260): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PGAP6_chr16_365788_386978 | 378516 | T | TGCCATCG others(234): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073 | 1 | 376 | 0.0027 | 241 | c.122 others(256): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 1/12 | chr16 | TogoVar | ||||||
| PGAP6_chr16_365788_386978 | 378516 | T | TGCCATCG others(234): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 376 | 0.0027 | 241 | c.122 others(256): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 1/12 | chr16 | TogoVar | ||||||
| PGAP6_chr16_365788_386978 | 378516 | T | TGCCATCG others(234): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0067 | 1 | 376 | 0.0027 | 241 | c.122 others(256): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 1/12 | chr16 | TogoVar | ||||||
| PIM1_chr6_37165152_37180428 | 37179406 | T | TATATATT others(234): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 414 | 0.0024 | 241 | c.*53 others(252): Show |
PIM1 | ENSG00000137193.14 | transcript | ENST00000373509.6 | protein_coding | 3979 | chr6 | TogoVar | ||||||
| PKHD1_chr6_51610299_52092613 | 51981304 | G | GCTCCCCC others(234): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0003 | a0003c0015 | a0003c0015t0001 | a0003c0015t0001g0039 | 1 | 134 | 0.0075 | 241 | c.575 others(262): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | ||||||
| PLCXD1_chrX_276381_308356 | 280600 | A | AGGCCGTG others(234): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0149 | 1 | 176 | 0.0057 | 241 | c.-11 others(252): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 780 | chrX | TogoVar | ||||||
| PLD4_chr14_104919879_104938236 | 104933704 | G | GGACGGGG others(234): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0004 | 1 | 426 | 0.0024 | 241 | c.*74 others(250): Show |
PLD4 | ENSG00000166428.14 | transcript | ENST00000392593.9 | protein_coding | 469 | chr14 | TogoVar | ||||||
| PLK5_chr19_1519077_1541046 | 1528627 | C | CCCCACCT others(234): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02723.hp1 |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0047a0005c0006t0048 | a0001c0001t0047g0229a0005c0006t0048g0228 | 2 | 430 | 0.0047 | 241 | c.328 others(256): Show |
PLK5 | ENSG00000185988.15 | transcript | ENST00000454744.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| POR_chr7_75910155_75991855 | 75988657 | T | TGGGGGGG others(234): Show |
downstream_gene_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0171 | 1 | 278 | 0.0036 | 241 | c.*21 others(252): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 1803 | chr7 | TogoVar | ||||||
| POTEI_chr2_130454455_130514328 | 130454983 | T | TGGGCCCG others(234): Show |
downstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 125 | 0.0080 | 241 | c.*78 others(252): Show |
POTEI | ENSG00000196834.14 | transcript | ENST00000451531.7 | protein_coding | 4471 | chr2 | TogoVar | ||||||
| PRIMPOL_chr4_184644738_184699952 | 184676452 | T | TCTCCCTT others(234): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0112 | 1 | 328 | 0.0031 | 241 | c.845 others(258): Show |
PRIMPOL | ENSG00000164306.11 | transcript | ENST00000314970.11 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PRKAG2_chr7_151551127_151882115 | 151855032 | C | CTCCACAC others(234): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0123 | 1 | 252 | 0.0040 | 241 | c.114 others(260): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
| PRKCB_chr16_23830983_24225611 | 23981838 | C | CCTTCCCT others(234): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0033 | 1 | 148 | 0.0068 | 241 | c.206 others(258): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | chr16 | TogoVar | ||||||
| PRKCZ_chr1_2045411_2190395 | 2122479 | G | GTCACGGT others(234): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 286 | 0.0035 | 241 | c.335 others(260): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PRKX_chrX_3599340_3718649 | 3681663 | T | TTTTTTTT others(234): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG01069.hp1 others(32): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0018a0001c0001t0002g0017a0001c0001t0002g0035others(32): Show | 35 | 227 | 0.1542 | 241 | c.167 others(258): Show |
PRKX | ENSG00000183943.6 | transcript | ENST00000262848.6 | protein_coding | 1/8 | chrX | TogoVar | ||||||
| PTPRG_chr3_61556571_62302609 | 61885680 | T | TCCTCTCC others(234): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03453.hp2 |
a0003 | a0003c0004 | a0003c0004t0002a0003c0004t0007 | a0003c0004t0002g0071a0003c0004t0007g0076 | 2 | 94 | 0.0213 | 241 | c.191 others(262): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PTPRM_chr18_7562316_8411856 | 7692150 | T | TGGAGGAT others(234): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0048 | 1 | 80 | 0.0125 | 241 | c.74- others(258): Show |
PTPRM | ENSG00000173482.17 | transcript | ENST00000580170.6 | protein_coding | 1/32 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| RAP1GAP2_chr17_2791438_3042741 | 3031293 | A | AGAGCTCC others(234): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG02486.hp2 others(6): Show |
a0001 | a0001c0004a0001c0010a0001c0025 | a0001c0004t0016a0001c0004t0017a0001c0004t0041others(6): Show | a0001c0004t0016g0011a0001c0004t0017g0002a0001c0004t0041g0201others(6): Show | 9 | 218 | 0.0413 | 241 | c.218 others(258): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 23/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RAP1GAP2_chr17_2791438_3042741 | 3031404 | T | TGCTGGTT others(234): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03471.hp2 HG03579.hp1 |
a0001 | a0001c0005a0001c0009a0001c0013 | a0001c0005t0140a0001c0009t0101a0001c0013t0103 | a0001c0005t0140g0042a0001c0009t0101g0014a0001c0013t0103g0071 | 3 | 218 | 0.0138 | 241 | c.218 others(258): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 23/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| RASA3_chr13_113972783_114137623 | 114044076 | C | CCCCCCGC others(234): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0067 | 1 | 67 | 0.0149 | 241 | c.278 others(258): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 3/23 | chr13 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114133533 | C | CAGTCCCC others(234): Show |
upstream_gene_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 67 | 0.0149 | 241 | c.-10 others(252): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 911 | chr13 | TogoVar | ||||||
| RBFOX3_chr17_79084345_79616051 | 79138709 | A | ATGCCCCC others(234): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02976.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0026 | a0001c0001t0002g0093a0001c0001t0005g0109a0001c0001t0026g0106 | 3 | 154 | 0.0195 | 241 | c.-33 others(260): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 4/14 | chr17 | TogoVar | ||||||
| RCOR3_chr1_211254366_211321385 | 211269880 | C | CTACTAGC others(234): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0122 | 1 | 324 | 0.0031 | 241 | c.224 others(258): Show |
RCOR3 | ENSG00000117625.14 | transcript | ENST00000419091.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RFX3_chr9_3213297_3531001 | 3467147 | T | TACATATA others(234): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0168 | 1 | 196 | 0.0051 | 241 | c.-9+ others(258): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 1/16 | chr9 | TogoVar | ||||||
| RIN3_chr14_92508781_92693994 | 92547121 | A | ATTATTAT others(234): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01168.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0039a0002c0002t0001g0137 | 2 | 334 | 0.0060 | 241 | c.45- others(256): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| RNF220_chr1_44400255_44656723 | 44475801 | C | CAAGAGAT others(234): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01943.hp1 HG02109.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0062a0001c0001t0001g0063a0001c0001t0001g0158others(6): Show | 9 | 218 | 0.0413 | 241 | c.625 others(260): Show |
RNF220 | ENSG00000187147.19 | transcript | ENST00000361799.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RNF220_chr1_44400255_44656723 | 44475801 | C | CAAGAGAT others(234): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03041.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0025a0001c0001t0001g0056a0001c0001t0002g0214 | 3 | 218 | 0.0138 | 241 | c.625 others(260): Show |
RNF220 | ENSG00000187147.19 | transcript | ENST00000361799.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RPH3AL_chr17_207389_357807 | 315166 | C | CCACCTCC others(234): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01496.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001a0001c0002t0001g0002 | 2 | 133 | 0.0150 | 241 | c.351 others(258): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 315825 | T | TAGTCCCT others(234): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01496.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001a0001c0002t0001g0002 | 2 | 133 | 0.0150 | 241 | c.351 others(258): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
| RTEL1_chr20_63653312_63701245 | 63693628 | C | CCACCCCA others(234): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 60 | 0.0167 | 241 | c.299 others(258): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |