| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NCAPH2_chr22_50503224_50529780 | 50504238 | C | CCCCCCCC others(230): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0196 | 1 | 384 | 0.0026 | 237 | c.-41 others(248): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 3985 | chr22 | TogoVar | ||||||
| NCAPH2_chr22_50503224_50529780 | 50504238 | C | CCCCCCCC others(230): Show |
upstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 384 | 0.0026 | 237 | c.-41 others(248): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 3985 | chr22 | TogoVar | ||||||
| NCAPH2_chr22_50503224_50529780 | 50504238 | C | CCCCCCCC others(230): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG02293.hp2 NA18998.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004a0001c0001t0001g0114a0001c0001t0001g0119others(2): Show | 5 | 384 | 0.0130 | 237 | c.-41 others(248): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 3985 | chr22 | TogoVar | ||||||
| NCAPH2_chr22_50503224_50529780 | 50504238 | C | CCCCCCCC others(230): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 384 | 0.0026 | 237 | c.-41 others(248): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 3985 | chr22 | TogoVar | ||||||
| NCAPH2_chr22_50503224_50529780 | 50504238 | C | CCCCCCCC others(230): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 384 | 0.0026 | 237 | c.-41 others(248): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 3985 | chr22 | TogoVar | ||||||
| NCAPH2_chr22_50503224_50529780 | 50504238 | C | CCCCCCGG others(230): Show |
upstream_gene_variant | MODIFIER | HG02809.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0135 | 2 | 384 | 0.0052 | 237 | c.-41 others(248): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 3985 | chr22 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805669 | A | ACCTTCCC others(230): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0055 | 1 | 319 | 0.0031 | 237 | c.-36 others(248): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3523 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241807495 | T | TCCCCCCT others(230): Show |
upstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0077 | 1 | 319 | 0.0031 | 237 | c.-17 others(248): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1697 | chr2 | TogoVar | ||||||
| NLRP13_chr19_55890945_55937336 | 55931710 | A | AAAGAAAG others(230): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0164 | 1 | 440 | 0.0023 | 237 | c.319 others(252): Show |
NLRP13 | ENSG00000173572.12 | transcript | ENST00000342929.4 | protein_coding | 1/10 | chr19 | TogoVar | ||||||
| NLRP8_chr19_55942832_55993629 | 55993534 | C | CCCTCCCC others(230): Show |
downstream_gene_variant | MODIFIER | NA18970.hp2 | a0003 | a0003c0009 | a0003c0009t0003 | a0003c0009t0003g0200 | 1 | 350 | 0.0029 | 237 | c.*56 others(248): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4906 | chr19 | TogoVar | ||||||
| NOL4_chr18_33846100_34229913 | 33953470 | T | TAAGAACA others(230): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 168 | 0.0060 | 237 | c.142 others(256): Show |
NOL4 | ENSG00000101746.16 | transcript | ENST00000261592.10 | protein_coding | 8/10 | chr18 | TogoVar | ||||||
| NOS3_chr7_150986017_151019588 | 150995593 | C | CCCCCATC others(230): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0127 | 1 | 382 | 0.0026 | 237 | c.270 others(252): Show |
NOS3 | ENSG00000164867.11 | transcript | ENST00000297494.8 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| OR11H4_chr14_20234286_20249349 | 20237659 | A | ATAGTATA others(230): Show |
upstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 439 | 0.0023 | 237 | c.-16 others(248): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1626 | chr14 | TogoVar | ||||||
| OR1Q1_chr9_122609738_122620682 | 122616970 | A | ACCTCCAG others(230): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 1 | 444 | 0.0023 | 237 | c.*12 others(248): Show |
OR1Q1 | ENSG00000165202.3 | transcript | ENST00000297913.3 | protein_coding | 1289 | chr9 | TogoVar | ||||||
| OR1S2_chr11_58198204_58209142 | 58199861 | T | TGAAAATG others(230): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00673.hp2 HG02071.hp1 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0000 | a0001c0002t0000g0000 | 13 | 426 | 0.0305 | 237 | c.*33 others(248): Show |
OR1S2 | ENSG00000197887.6 | transcript | ENST00000641683.2 | protein_coding | 3342 | chr11 | TogoVar | ||||||
| OR4F17_chr19_102104_118156 | 107942 | T | TAATATAA others(230): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 227 | 0.0044 | 237 | c.-55 others(252): Show |
OR4F17 | ENSG00000176695.8 | transcript | ENST00000585993.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| ORAI2_chr7_102428575_102461825 | 102445084 | C | CCATGCCT others(230): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0087 | a0001c0001t0087g0172 | 1 | 404 | 0.0025 | 237 | c.226 others(254): Show |
ORAI2 | ENSG00000160991.17 | transcript | ENST00000495936.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| PACRGL_chr4_20695458_20737557 | 20729351 | T | TGTAAGAA others(230): Show |
3_prime_UTR_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0001 | 1 | 412 | 0.0024 | 237 | c.*20 others(248): Show |
PACRGL | ENSG00000163138.19 | transcript | ENST00000503585.6 | protein_coding | 9/9 | 2248 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||
| PALD1_chr10_70473767_70573450 | 70554954 | C | CCCCTCCC others(230): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00609.hp1 HG00642.hp2 others(43): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0007a0001c0013others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0017others(43): Show | 46 | 308 | 0.1494 | 237 | c.226 others(256): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PALD1_chr10_70473767_70573450 | 70554954 | C | CCCCTCCC others(230): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 308 | 0.0033 | 237 | c.226 others(256): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PALD1_chr10_70473767_70573450 | 70554954 | C | CCCCTCCT others(230): Show |
intron_variant | MODIFIER | NA18983.hp2 NA19010.hp2 |
a0003a0005 | a0003c0003a0005c0009 | a0003c0003t0032a0005c0009t0004 | a0003c0003t0032g0020a0005c0009t0004g0053 | 2 | 308 | 0.0065 | 237 | c.226 others(256): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PARD3_chr10_34104561_34820296 | 34605988 | A | ATATATCT others(230): Show |
intron_variant | MODIFIER | HG01099.hp2 HG03704.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0013a0001c0002t0004g0015 | 2 | 100 | 0.0200 | 237 | c.223 others(256): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | ||||||
| PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(230): Show |
downstream_gene_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0041 | 1 | 400 | 0.0025 | 237 | c.*70 others(248): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | ||||||
| PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(230): Show |
downstream_gene_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 400 | 0.0025 | 237 | c.*70 others(248): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | ||||||
| PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(230): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 400 | 0.0025 | 237 | c.*70 others(248): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | ||||||
| PCNT_chr21_46319156_46450769 | 46413361 | G | GCGGGGAA others(230): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0043 | a0043c0049 | a0043c0049t0001 | a0043c0049t0001g0047 | 1 | 332 | 0.0030 | 237 | c.615 others(254): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 29/46 | chr21 | TogoVar | ||||||
| PDIA2_chr16_278164_292215 | 285909 | C | CCCAACCC others(230): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0166 | 1 | 436 | 0.0023 | 237 | c.111 others(254): Show |
PDIA2 | ENSG00000185615.16 | transcript | ENST00000219406.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| PFKP_chr10_3062548_3141802 | 3106725 | G | GCCCCTCT others(230): Show |
intron_variant | MODIFIER | HG01243.hp2 HG03098.hp2 |
a0001 | a0001c0014a0001c0017 | a0001c0014t0006a0001c0017t0011 | a0001c0014t0006g0353a0001c0017t0011g0357 | 2 | 402 | 0.0050 | 237 | c.775 others(252): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PIM1_chr6_37165152_37180428 | 37179406 | T | TATATATA others(230): Show |
downstream_gene_variant | MODIFIER | NA18943.hp1 NA18945.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 2 | 414 | 0.0048 | 237 | c.*53 others(248): Show |
PIM1 | ENSG00000137193.14 | transcript | ENST00000373509.6 | protein_coding | 3979 | chr6 | TogoVar | ||||||
| PLEKHG4B_chr5_87168_194966 | 175614 | A | ACCCCCTC others(230): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0032 | a0032c0058 | a0032c0058t0040 | a0032c0058t0040g0158 | 1 | 210 | 0.0048 | 237 | c.440 others(256): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| POTEI_chr2_130454455_130514328 | 130454867 | A | AAGGCCAA others(230): Show |
downstream_gene_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 125 | 0.0080 | 237 | c.*79 others(248): Show |
POTEI | ENSG00000196834.14 | transcript | ENST00000451531.7 | protein_coding | 4587 | chr2 | TogoVar | ||||||
| PRKCZ_chr1_2045411_2190395 | 2123358 | C | CATGGTGG others(230): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 286 | 0.0035 | 237 | c.335 others(256): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | chr1 | TogoVar | ||||||
| PRKCZ_chr1_2045411_2190395 | 2123797 | G | GTCATGGT others(230): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0134 | 1 | 286 | 0.0035 | 237 | c.335 others(256): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PRKCZ_chr1_2045411_2190395 | 2123848 | G | GTCACGGT others(230): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00733.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0136a0001c0003t0001g0258 | 2 | 286 | 0.0070 | 237 | c.335 others(256): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PWWP2B_chr10_132392200_132422859 | 132392560 | A | AATGGTGA others(230): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 NA19057.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034a0001c0001t0001g0227 | 3 | 374 | 0.0080 | 237 | c.-46 others(248): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 4639 | chr10 | TogoVar | ||||||
| PXDN_chr2_1626887_1749515 | 1719977 | A | AGGGAGGG others(230): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0201 | 1 | 322 | 0.0031 | 237 | c.200 others(256): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
| RAB3C_chr5_58578075_58864394 | 58597109 | T | TATATATA others(230): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0033 | 1 | 220 | 0.0046 | 237 | c.24+ others(254): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| RAB3C_chr5_58578075_58864394 | 58597109 | T | TATATATA others(230): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00735.hp2 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0025others(40): Show | 43 | 220 | 0.1955 | 237 | c.24+ others(254): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| RAB3C_chr5_58578075_58864394 | 58597109 | T | TATATATA others(230): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0154 | 1 | 220 | 0.0046 | 237 | c.24+ others(254): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| RAB3C_chr5_58578075_58864394 | 58597109 | T | TATATATA others(230): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 220 | 0.0046 | 237 | c.24+ others(254): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| RAB3C_chr5_58578075_58864394 | 58597109 | T | TATATATA others(230): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02135.hp1 HG02165.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0037a0001c0001t0001g0069a0001c0001t0002g0002others(10): Show | 13 | 220 | 0.0591 | 237 | c.24+ others(254): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| RAB3C_chr5_58578075_58864394 | 58597109 | T | TATATATA others(230): Show |
intron_variant | MODIFIER | HG02135.hp2 HG03017.hp1 HG03831.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0002g0066a0001c0001t0005g0005a0001c0001t0008g0065others(3): Show | 6 | 220 | 0.0273 | 237 | c.24+ others(254): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| RAB3C_chr5_58578075_58864394 | 58597109 | T | TATATATA others(230): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0156 | 1 | 220 | 0.0046 | 237 | c.24+ others(254): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| RAB3C_chr5_58578075_58864394 | 58597117 | A | ATACATAA others(230): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 220 | 0.0046 | 237 | c.24+ others(254): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| RFX3_chr9_3213297_3531001 | 3505389 | A | AATATAAA others(230): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0052 | a0001c0001t0001g0049a0001c0001t0052g0165 | 2 | 196 | 0.0102 | 237 | c.-9+ others(254): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 1/16 | chr9 | TogoVar | ||||||
| RIOK2_chr5_97155867_97188247 | 97179991 | A | ATATATAT others(230): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0007 | a0007c0009 | a0007c0009t0011 | a0007c0009t0011g0240 | 1 | 410 | 0.0024 | 237 | c.67- others(250): Show |
RIOK2 | ENSG00000058729.11 | transcript | ENST00000283109.8 | protein_coding | 1/9 | chr5 | TogoVar | ||||||
| RIPOR3_chr20_50581108_50696542 | 50666183 | A | ATTTCTTT others(230): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0023 | 1 | 280 | 0.0036 | 237 | c.3+2 others(252): Show |
RIPOR3 | ENSG00000042062.13 | transcript | ENST00000327979.8 | protein_coding | 1/21 | chr20 | TogoVar | ||||||
| RNASE10_chr14_20500537_20518884 | 20505261 | G | GCTCCCTC others(230): Show |
upstream_gene_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0004 | 1 | 396 | 0.0025 | 237 | c.-76 others(246): Show |
RNASE10 | ENSG00000182545.7 | transcript | ENST00000430083.2 | protein_coding | 275 | chr14 | TogoVar | ||||||
| RNF17_chr13_24759169_24884921 | 24881816 | C | CTATATAG others(230): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0010 | 1 | 426 | 0.0024 | 237 | c.*20 others(248): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 1896 | chr13 | TogoVar | ||||||
| RSPH1_chr21_42467486_42501224 | 42476973 | T | TGGGGATG others(230): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01074.hp1 HG01515.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0007a0001c0002t0002g0076 | 3 | 408 | 0.0074 | 237 | c.727 others(252): Show |
RSPH1 | ENSG00000160188.10 | transcript | ENST00000291536.8 | protein_coding | 7/8 | chr21 | TogoVar |