| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MICAL3_chr22_17782649_18029561 | 17877229 | G | GGTTATGG others(236): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 274 | 0.0037 | 243 | c.224 others(262): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
| MICAL3_chr22_17782649_18029561 | 17877252 | G | GGGAGGTG others(236): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0047 | 1 | 274 | 0.0037 | 243 | c.224 others(262): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
| MICAL3_chr22_17782649_18029561 | 17877306 | T | TGGAGGTT others(236): Show |
intron_variant | MODIFIER | NA19078.hp1 | a0013 | a0013c0025 | a0013c0025t0003 | a0013c0025t0003g0129 | 1 | 274 | 0.0037 | 243 | c.224 others(262): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
| MID2_chrX_107820866_107936637 | 107910838 | C | CTTTCCTT others(236): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0160 | 1 | 181 | 0.0055 | 243 | c.107 others(262): Show |
MID2 | ENSG00000080561.14 | transcript | ENST00000262843.11 | protein_coding | 5/9 | chrX | TogoVar | ||||||
| MIER2_chr19_300573_349796 | 303572 | C | CCTCAATA others(236): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0102 | 1 | 384 | 0.0026 | 243 | c.*31 others(254): Show |
MIER2 | ENSG00000105556.12 | transcript | ENST00000264819.7 | protein_coding | 2000 | chr19 | TogoVar | ||||||
| MMP26_chr11_4699784_4997429 | 4886717 | C | CAAAAGAC others(236): Show |
intron_variant | MODIFIER | HG01361.hp1 HG03453.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0019a0003c0003t0001g0123 | 2 | 206 | 0.0097 | 243 | c.-14 others(266): Show |
MMP26 | ENSG00000167346.9 | transcript | ENST00000380390.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| MPPED2_chr11_30405224_30591353 | 30557225 | A | AATATATA others(236): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 262 | 0.0038 | 243 | c.129 others(262): Show |
MPPED2 | ENSG00000066382.17 | transcript | ENST00000358117.10 | protein_coding | 2/6 | chr11 | TogoVar | ||||||
| MSLN_chr16_755734_773862 | 767721 | A | AGGGGCGC others(236): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 388 | 0.0026 | 243 | c.159 others(260): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| MSLN_chr16_755734_773862 | 767867 | A | AGGGGCGC others(236): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0033 | 1 | 388 | 0.0026 | 243 | c.159 others(260): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| MYOM2_chr8_2040046_2150456 | 2085613 | C | CGTGGCCC others(236): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01070.hp2 |
a0004 | a0004c0049 | a0004c0049t0001 | a0004c0049t0001g0141a0004c0049t0001g0378 | 2 | 403 | 0.0050 | 243 | c.164 others(260): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| NAP1L5_chr4_88690913_88702829 | 88699285 | T | TTCCCCAC others(236): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 2 | 414 | 0.0048 | 243 | c.-15 others(254): Show |
NAP1L5 | ENSG00000177432.8 | transcript | ENST00000323061.7 | protein_coding | 1457 | chr4 | TogoVar | ||||||
| NAP1L5_chr4_88690913_88702829 | 88699285 | T | TTCCCCAC others(236): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 414 | 0.0024 | 243 | c.-15 others(254): Show |
NAP1L5 | ENSG00000177432.8 | transcript | ENST00000323061.7 | protein_coding | 1457 | chr4 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241807370 | A | ACCCTCCC others(236): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 319 | 0.0031 | 243 | c.-19 others(254): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1822 | chr2 | TogoVar | ||||||
| NEXN_chr1_77883624_77948895 | 77887912 | T | TTTCTTCT others(236): Show |
upstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 268 | 0.0037 | 243 | c.-90 others(252): Show |
NEXN | ENSG00000162614.19 | transcript | ENST00000334785.12 | protein_coding | 711 | chr1 | TogoVar | ||||||
| NFATC2_chr20_51381963_51547719 | 51500818 | A | ACCACCCC others(236): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0223 | 1 | 316 | 0.0032 | 243 | c.133 others(264): Show |
NFATC2 | ENSG00000101096.20 | transcript | ENST00000371564.8 | protein_coding | 3/10 | chr20 | TogoVar | ||||||
| NFATC2_chr20_51381963_51547719 | 51500818 | A | ACCACCCC others(236): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0002 | a0001c0002t0039 | a0001c0002t0039g0132 | 1 | 316 | 0.0032 | 243 | c.133 others(264): Show |
NFATC2 | ENSG00000101096.20 | transcript | ENST00000371564.8 | protein_coding | 3/10 | chr20 | TogoVar | ||||||
| NFIB_chr9_14076848_14319141 | 14261536 | T | TAAGAGGA others(236): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0071 | a0001c0001t0071g0164 | 1 | 304 | 0.0033 | 243 | c.562 others(262): Show |
NFIB | ENSG00000147862.18 | transcript | ENST00000380953.6 | protein_coding | 2/10 | chr9 | TogoVar | ||||||
| NLRP8_chr19_55942832_55993629 | 55993551 | C | CCCCTCCC others(236): Show |
downstream_gene_variant | MODIFIER | NA19090.hp2 | a0004 | a0004c0012 | a0004c0012t0003 | a0004c0012t0003g0296 | 1 | 350 | 0.0029 | 243 | c.*56 others(254): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4923 | chr19 | TogoVar | ||||||
| NRCAM_chr7_108142649_108461436 | 108163994 | C | CGGTAATG others(236): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0002 | a0002c0006 | a0002c0006t0005 | a0002c0006t0005g0181 | 1 | 208 | 0.0048 | 243 | c.346 others(262): Show |
NRCAM | ENSG00000091129.22 | transcript | ENST00000379028.8 | protein_coding | 30/32 | chr7 | TogoVar | ||||||
| NTSR1_chr20_62703836_62767771 | 62755590 | C | CTCCATCA others(236): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG01069.hp1 others(43): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0033others(18): Show | a0001c0001t0001g0007a0001c0001t0001g0054a0001c0001t0004g0004others(42): Show | 46 | 316 | 0.1456 | 243 | c.916 others(258): Show |
NTSR1 | ENSG00000101188.5 | transcript | ENST00000370501.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| OR51T1_chr11_4876900_4887883 | 4886717 | C | CAAAAGAC others(236): Show |
downstream_gene_variant | MODIFIER | HG01361.hp1 HG03453.hp2 NA19001.hp1 |
a0001a0007 | a0001c0001a0007c0014 | a0001c0001t0000a0007c0014t0000 | a0001c0001t0000g0000a0007c0014t0000g0000 | 3 | 426 | 0.0070 | 243 | c.*38 others(254): Show |
OR51T1 | ENSG00000176900.2 | transcript | ENST00000322049.1 | protein_coding | 3835 | chr11 | TogoVar | ||||||
| OR6C2_chr12_55439076_55458347 | 55446372 | T | TTTTTTTT others(236): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG02015.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0038a0001c0001t0001g0064others(4): Show | 14 | 454 | 0.0308 | 243 | c.-88 others(262): Show |
OR6C2 | ENSG00000179695.3 | transcript | ENST00000641202.1 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
| PAK1_chr11_77317017_77479094 | 77332356 | A | AGGGAAGG others(236): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0207 | 1 | 302 | 0.0033 | 243 | c.155 others(260): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 14/14 | chr11 | TogoVar | ||||||
| PAK1_chr11_77317017_77479094 | 77332356 | A | AGGGAAGG others(236): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG02135.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0265a0001c0001t0003g0268a0001c0001t0003g0269others(3): Show | 6 | 302 | 0.0199 | 243 | c.155 others(260): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 14/14 | chr11 | TogoVar | ||||||
| PAK2_chr3_196734857_196837647 | 196811362 | C | CCTTCCCT others(236): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0156 | 1 | 178 | 0.0056 | 243 | c.773 others(258): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PDE9A_chr21_42648621_42780509 | 42778563 | G | GCCCCCGC others(236): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006 | a0001c0001t0005g0182a0001c0001t0006g0299 | 2 | 324 | 0.0062 | 243 | c.*32 others(254): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 3055 | chr21 | TogoVar | ||||||
| PDIA2_chr16_278164_292215 | 285909 | C | CCCAACCC others(236): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0125 | 1 | 436 | 0.0023 | 243 | c.111 others(260): Show |
PDIA2 | ENSG00000185615.16 | transcript | ENST00000219406.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| PDIA6_chr2_10778391_10817785 | 10806628 | C | CAAAGAAA others(236): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0179 | 1 | 342 | 0.0029 | 243 | c.20- others(258): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
| PDXK_chr21_43714129_43767299 | 43741280 | G | GGGGGGCT others(236): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0186a0001c0001t0007g0187 | 2 | 358 | 0.0056 | 243 | c.143 others(258): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PDXK_chr21_43714129_43767299 | 43741292 | G | GGGGGGCT others(236): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0212 | 1 | 358 | 0.0028 | 243 | c.143 others(258): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PDZK1IP1_chr1_47178582_47195036 | 47184547 | C | CCCATCCC others(236): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 426 | 0.0024 | 243 | c.272 others(258): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
| PDZRN4_chr12_41183320_41579745 | 41453906 | T | TAAAATTT others(236): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0187 | 1 | 206 | 0.0049 | 243 | c.844 others(262): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PEBP1_chr12_118131124_118150584 | 118133225 | T | TCATTTCA others(236): Show |
upstream_gene_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 | 1 | 426 | 0.0024 | 243 | c.-29 others(254): Show |
PEBP1 | ENSG00000089220.5 | transcript | ENST00000261313.3 | protein_coding | 2898 | chr12 | TogoVar | ||||||
| PEX10_chr1_2398974_2417564 | 2401341 | T | TCTCCCTC others(236): Show |
downstream_gene_variant | MODIFIER | HG01256.hp1 NA19066.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0002 | a0001c0001t0002g0001a0001c0004t0002g0012 | 2 | 358 | 0.0056 | 243 | c.*44 others(254): Show |
PEX10 | ENSG00000157911.11 | transcript | ENST00000447513.7 | protein_coding | 2632 | chr1 | TogoVar | ||||||
| PEX10_chr1_2398974_2417564 | 2401341 | T | TCTCCCTC others(236): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 HG02040.hp1 HG03225.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0007a0001c0001t0005g0063 | 5 | 358 | 0.0140 | 243 | c.*44 others(254): Show |
PEX10 | ENSG00000157911.11 | transcript | ENST00000447513.7 | protein_coding | 2632 | chr1 | TogoVar | ||||||
| PEX10_chr1_2398974_2417564 | 2401341 | T | TCTCCCTC others(236): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 358 | 0.0028 | 243 | c.*44 others(254): Show |
PEX10 | ENSG00000157911.11 | transcript | ENST00000447513.7 | protein_coding | 2632 | chr1 | TogoVar | ||||||
| PEX10_chr1_2398974_2417564 | 2401382 | T | TCCTCCCT others(236): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 358 | 0.0028 | 243 | c.*43 others(254): Show |
PEX10 | ENSG00000157911.11 | transcript | ENST00000447513.7 | protein_coding | 2591 | chr1 | TogoVar | ||||||
| PGAP6_chr16_365788_386978 | 378520 | A | ATCGCCAC others(236): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 | 1 | 376 | 0.0027 | 243 | c.122 others(258): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 1/12 | chr16 | TogoVar | ||||||
| PGAP6_chr16_365788_386978 | 378520 | A | ATCGCCAC others(236): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 376 | 0.0027 | 243 | c.122 others(258): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 1/12 | chr16 | TogoVar | ||||||
| PHF21B_chr22_44876162_45015005 | 44884022 | A | ACCACCAT others(236): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02109.hp2 HG02630.hp1 |
a0001 | a0001c0002 | a0001c0002t0009a0001c0002t0014 | a0001c0002t0009g0004a0001c0002t0009g0005a0001c0002t0014g0283 | 3 | 300 | 0.0100 | 243 | c.137 others(260): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 12/12 | chr22 | TogoVar | ||||||
| PIAS4_chr19_4002736_4044386 | 4035959 | A | ACACCCGC others(236): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0236 | 1 | 334 | 0.0030 | 243 | c.114 others(262): Show |
PIAS4 | ENSG00000105229.7 | transcript | ENST00000262971.3 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| PKP3_chr11_389209_409908 | 399267 | T | TCCCCACC others(236): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0106 | 1 | 216 | 0.0046 | 243 | c.127 others(260): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PLEKHG7_chr12_92697989_92777455 | 92728409 | A | ATGGTGGT others(236): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0003 | a0002c0003t0022 | a0002c0003t0022g0011 | 1 | 252 | 0.0040 | 243 | c.531 others(258): Show |
PLEKHG7 | ENSG00000187510.11 | transcript | ENST00000344636.6 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PLPPR3_chr19_807488_826955 | 816328 | T | TCCACCCA others(236): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(191): Show |
a0000a0001a0002others(7): Show | a0000c0007a0000c0009a0000c0019others(17): Show | a0000c0007t0001a0000c0009t0001a0000c0009t0002others(25): Show | a0000c0007t0001g0025a0000c0007t0001g0120a0000c0007t0001g0125others(99): Show | 194 | 398 | 0.4874 | 243 | c.76- others(256): Show |
PLPPR3 | ENSG00000129951.19 | transcript | ENST00000520876.8 | protein_coding | 2/7 | chr19 | TogoVar | ||||||
| PLPPR3_chr19_807488_826955 | 816328 | T | TCCACCCA others(236): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 398 | 0.0025 | 243 | c.76- others(256): Show |
PLPPR3 | ENSG00000129951.19 | transcript | ENST00000520876.8 | protein_coding | 2/7 | chr19 | TogoVar | ||||||
| PLPPR3_chr19_807488_826955 | 816328 | T | TCCACCCA others(236): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 398 | 0.0025 | 243 | c.76- others(256): Show |
PLPPR3 | ENSG00000129951.19 | transcript | ENST00000520876.8 | protein_coding | 2/7 | chr19 | TogoVar | ||||||
| PNMA5_chrX_152983824_152999116 | 152998738 | T | TTTATATA others(236): Show |
upstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 286 | 0.0070 | 243 | c.-50 others(254): Show |
PNMA5 | ENSG00000198883.12 | transcript | ENST00000535214.6 | protein_coding | 4623 | chrX | TogoVar | ||||||
| PRDM16_chr1_3064203_3443621 | 3176152 | T | TATCCATC others(236): Show |
intron_variant | MODIFIER | HG01361.hp2 NA19074.hp1 |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0015a0003c0005t0001 | a0001c0002t0015g0118a0003c0005t0001g0172 | 2 | 210 | 0.0095 | 243 | c.38- others(258): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PRDM16_chr1_3064203_3443621 | 3176152 | T | TATCCATC others(236): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0187 | 1 | 210 | 0.0048 | 243 | c.38- others(258): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PRDM16_chr1_3064203_3443621 | 3176152 | T | TATCCATC others(236): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0003 | a0002c0003t0029 | a0002c0003t0029g0106 | 1 | 210 | 0.0048 | 243 | c.38- others(258): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |