| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NLRP8_chr19_55942832_55993629 | 55993551 | C | CCCCTCCC others(343): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 | a0000 | a0000c0033 | a0000c0033t0062 | a0000c0033t0062g0233 | 1 | 350 | 0.0029 | 350 | c.*56 others(361): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4923 | chr19 | TogoVar | |||||||
| NOC4L_chr12_132139457_132157468 | 132149358 | C | CCACACCC others(343): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 294 | 0.0034 | 350 | c.901 others(365): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | chr12 | TogoVar | |||||||
| NOC4L_chr12_132139457_132157468 | 132149534 | C | CCACACCC others(343): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 294 | 0.0034 | 350 | c.901 others(365): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | chr12 | TogoVar | |||||||
| NOC4L_chr12_132139457_132157468 | 132150233 | C | CCACACCC others(343): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0102 | 1 | 294 | 0.0034 | 350 | c.902 others(365): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | chr12 | TogoVar | |||||||
| NOTCH1_chr9_136489433_136551048 | 136535571 | A | AGAGGGGA others(343): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0184a0001c0003t0001g0205 | 2 | 324 | 0.0062 | 350 | c.140 others(367): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
| NQO2_chr6_2994894_3024755 | 3010216 | T | TATAAAAA others(343): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 446 | 0.0022 | 350 | c.172 others(363): Show |
NQO2 | ENSG00000124588.22 | transcript | ENST00000380455.11 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| NRF1_chr7_129606720_129762076 | 129642756 | A | ACTTTTTT others(343): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 1 | 384 | 0.0026 | 350 | c.-6- others(367): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 1/10 | chr7 | TogoVar | |||||||
| NRF1_chr7_129606720_129762076 | 129642756 | A | ACTTTTTT others(343): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 384 | 0.0026 | 350 | c.-6- others(367): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 1/10 | chr7 | TogoVar | |||||||
| NRF1_chr7_129606720_129762076 | 129642756 | A | ACTTTTTT others(343): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 | 1 | 384 | 0.0026 | 350 | c.-6- others(367): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 1/10 | chr7 | TogoVar | |||||||
| NRIP1_chr21_14956235_15070000 | 14980613 | T | TGATCAAT others(343): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 398 | 0.0025 | 350 | c.-33 others(371): Show |
NRIP1 | ENSG00000180530.11 | transcript | ENST00000318948.7 | protein_coding | 3/3 | chr21 | TogoVar | |||||||
| NT5C1A_chr1_39646229_39677107 | 39664507 | T | TCCTCTCC others(343): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0071 | 1 | 326 | 0.0031 | 350 | c.433 others(367): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
| NUP93_chr16_56725129_56855286 | 56808192 | A | ATAACTAT others(343): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0003 | a0001c0003t0021 | a0001c0003t0021g0262 | 1 | 378 | 0.0027 | 350 | c.489 others(367): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| NUP93_chr16_56725129_56855286 | 56808471 | C | CTATAAAA others(343): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02300.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0255a0001c0003t0002g0290 | 2 | 378 | 0.0053 | 350 | c.489 others(367): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| OPRM1_chr6_154034240_154137356 | 154100218 | C | CATATATC others(343): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0006 | a0006c0007 | a0006c0007t0004 | a0006c0007t0004g0245 | 1 | 268 | 0.0037 | 350 | c.116 others(369): Show |
OPRM1 | ENSG00000112038.18 | transcript | ENST00000330432.12 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| OPRM1_chr6_154034240_154137356 | 154100218 | C | CATATCAT others(343): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0002 | a0002c0002 | a0002c0002t0022 | a0002c0002t0022g0084 | 1 | 268 | 0.0037 | 350 | c.116 others(369): Show |
OPRM1 | ENSG00000112038.18 | transcript | ENST00000330432.12 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| OR4K14_chr14_20009143_20024307 | 20016136 | A | ACTGAATG others(343): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 438 | 0.0023 | 350 | c.-29 others(365): Show |
OR4K14 | ENSG00000169484.4 | transcript | ENST00000641793.1 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
| PACRG_chr6_162722974_163320500 | 162769334 | T | TAAAACCT others(343): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 130 | 0.0077 | 350 | c.156 others(369): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| PADI4_chr1_17303197_17369004 | 17352038 | G | GGTGGGAG others(343): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0287 | 1 | 372 | 0.0027 | 350 | c.115 others(369): Show |
PADI4 | ENSG00000159339.13 | transcript | ENST00000375448.4 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PATL1_chr11_59631716_59674037 | 59636010 | T | TAAAAATT others(343): Show |
downstream_gene_variant | MODIFIER | HG01978.hp2 HG02523.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173a0001c0001t0001g0178 | 2 | 276 | 0.0073 | 350 | c.*23 others(361): Show |
PATL1 | ENSG00000166889.14 | transcript | ENST00000300146.10 | protein_coding | 705 | chr11 | TogoVar | |||||||
| PCDHGA1_chr5_141325514_141517975 | 141333382 | T | TAGAAACG others(343): Show |
intron_variant | MODIFIER | HG02071.hp1 NA19000.hp2 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0219a0001c0002t0005g0220 | 2 | 268 | 0.0075 | 350 | c.242 others(367): Show |
PCDHGA1 | ENSG00000204956.6 | transcript | ENST00000517417.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 715333 | A | AACTGGGC others(343): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0002 | a0002c0002t0053 | a0002c0002t0053g0059 | 1 | 366 | 0.0027 | 350 | c.-19 others(369): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 715333 | A | AACTGGGC others(343): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00609.hp1 others(51): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(18): Show | a0001c0001t0001g0007a0001c0001t0001g0051a0001c0001t0001g0052others(51): Show | 54 | 366 | 0.1475 | 350 | c.-19 others(369): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 715352 | G | AACCCTGT others(343): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01167.hp1 HG01168.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0013a0001c0001t0003g0065a0001c0001t0004g0015others(6): Show | 9 | 366 | 0.0246 | 350 | c.-19 others(369): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 1/10 | chr4 | TogoVar | |||||||
| PDCD10_chr3_167678298_167739892 | 167684952 | A | AAAAATAT others(343): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02132.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0093a0001c0001t0004g0095 | 2 | 284 | 0.0070 | 350 | c.558 others(365): Show |
PDCD10 | ENSG00000114209.15 | transcript | ENST00000392750.7 | protein_coding | 8/8 | chr3 | TogoVar | |||||||
| PDCD1_chr2_241844884_241863894 | 241848193 | T | TTGAGTTC others(343): Show |
downstream_gene_variant | MODIFIER | NA19063.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0002 | 1 | 407 | 0.0025 | 350 | c.*28 others(361): Show |
PDCD1 | ENSG00000188389.11 | transcript | ENST00000334409.10 | protein_coding | 1690 | chr2 | TogoVar | |||||||
| PEBP4_chr8_22708251_22932914 | 22922440 | C | CAAGACTA others(343): Show |
intron_variant | MODIFIER | NA18980.hp1 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0206a0001c0001t0002g0207 | 2 | 278 | 0.0072 | 350 | c.132 others(367): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 2/6 | chr8 | TogoVar | |||||||
| PEBP4_chr8_22708251_22932914 | 22922440 | C | CAAGACTA others(343): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(59): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(10): Show | a0001c0001t0001g0099a0001c0001t0002g0170a0001c0001t0002g0179others(59): Show | 62 | 278 | 0.2230 | 350 | c.132 others(367): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 2/6 | chr8 | TogoVar | |||||||
| PEBP4_chr8_22708251_22932914 | 22922440 | C | CAAGACTA others(343): Show |
intron_variant | MODIFIER | HG00438.hp2 NA18964.hp1 NA19065.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0173a0001c0001t0002g0174a0001c0001t0002g0175others(1): Show | 4 | 278 | 0.0144 | 350 | c.132 others(367): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 2/6 | chr8 | TogoVar | |||||||
| PEBP4_chr8_22708251_22932914 | 22922440 | C | CAAGACTA others(343): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02965.hp1 HG03225.hp2 |
a0003a0005a0006 | a0003c0003a0005c0006a0006c0007 | a0003c0003t0010a0005c0006t0001a0006c0007t0003 | a0003c0003t0010g0095a0005c0006t0001g0096a0006c0007t0003g0097 | 3 | 278 | 0.0108 | 350 | c.132 others(367): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 2/6 | chr8 | TogoVar | |||||||
| PFKFB3_chr10_6197932_6240532 | 6210574 | A | AGTCTTGA others(343): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0245 | 1 | 432 | 0.0023 | 350 | c.77- others(365): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| PGAM5_chr12_132705842_132727734 | 132718575 | G | GGTCCTGG others(343): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01081.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012a0001c0001t0013others(2): Show | a0001c0001t0003g0003a0001c0001t0003g0044a0001c0001t0003g0045others(22): Show | 39 | 394 | 0.0990 | 350 | c.719 others(365): Show |
PGAM5 | ENSG00000247077.8 | transcript | ENST00000498926.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| PIMREG_chr17_6439455_6456469 | 6455724 | G | GGAGGGGG others(343): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0123 | 1 | 312 | 0.0032 | 350 | c.*53 others(361): Show |
PIMREG | ENSG00000129195.16 | transcript | ENST00000572447.6 | protein_coding | 4256 | chr17 | TogoVar | |||||||
| PIP4K2A_chr10_22529854_22719578 | 22578645 | T | TTTGTTTA others(343): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0157 | 1 | 206 | 0.0049 | 350 | c.493 others(367): Show |
PIP4K2A | ENSG00000150867.14 | transcript | ENST00000376573.9 | protein_coding | 4/9 | chr10 | TogoVar | |||||||
| PIP5K1C_chr19_3625183_3705468 | 3649113 | A | ATGCCCAC others(343): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02622.hp2 |
a0002a0003 | a0002c0005a0003c0004 | a0002c0005t0036a0003c0004t0006 | a0002c0005t0036g0174a0003c0004t0006g0172 | 2 | 332 | 0.0060 | 350 | c.112 others(367): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | |||||||
| PIP5K1C_chr19_3625183_3705468 | 3649213 | A | ATGCCCAC others(343): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0017 | a0001c0017t0034 | a0001c0017t0034g0198 | 1 | 332 | 0.0030 | 350 | c.112 others(367): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | |||||||
| PIP5K1C_chr19_3625183_3705468 | 3649263 | A | ATGCCCAC others(343): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 332 | 0.0030 | 350 | c.112 others(367): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | |||||||
| PIP5K1C_chr19_3625183_3705468 | 3649263 | A | ATGCCCAC others(343): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01516.hp2 HG02622.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0048a0001c0001t0001g0049a0001c0001t0001g0051others(5): Show | 8 | 332 | 0.0241 | 350 | c.112 others(367): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | |||||||
| PIP5K1C_chr19_3625183_3705468 | 3649263 | A | ATGCCCAC others(343): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0179 | 1 | 332 | 0.0030 | 350 | c.112 others(367): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | |||||||
| PIP5K1C_chr19_3625183_3705468 | 3649513 | A | ATGCCCAC others(343): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02922.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0175a0001c0002t0003g0182 | 2 | 332 | 0.0060 | 350 | c.112 others(367): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | |||||||
| PITPNM3_chr17_6446263_6561555 | 6561372 | T | TCCTCCTC others(343): Show |
upstream_gene_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0004 | a0002c0004t0007 | a0002c0004t0007g0041 | 1 | 218 | 0.0046 | 350 | c.-49 others(361): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 4818 | chr17 | TogoVar | |||||||
| PLPP1_chr5_55419854_55539964 | 55433460 | T | TTCAGTAA others(343): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 294 | 0.0034 | 350 | c.550 others(367): Show |
PLPP1 | ENSG00000067113.17 | transcript | ENST00000307259.9 | protein_coding | 4/5 | chr5 | TogoVar | |||||||
| PLPP2_chr19_276043_296403 | 291613 | G | GGGGGGAC others(343): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 354 | 0.0028 | 350 | c.-27 others(359): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 211 | chr19 | TogoVar | |||||||
| PPP1R12C_chr19_55085918_55122637 | 55097586 | G | GCAGTTCA others(343): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 390 | 0.0026 | 350 | c.951 others(367): Show |
PPP1R12C | ENSG00000125503.13 | transcript | ENST00000263433.8 | protein_coding | 6/21 | chr19 | TogoVar | |||||||
| PRDM16_chr1_3064203_3443621 | 3212589 | C | CCCCGCTC others(343): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0038 | 1 | 210 | 0.0048 | 350 | c.387 others(369): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PRDM16_chr1_3064203_3443621 | 3212589 | C | CCCCGCTC others(343): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0006 | a0001c0006t0011 | a0001c0006t0011g0065 | 1 | 210 | 0.0048 | 350 | c.387 others(369): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PRDM16_chr1_3064203_3443621 | 3212589 | C | CCCCGCTC others(343): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0005 | 1 | 210 | 0.0048 | 350 | c.387 others(369): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PRDM16_chr1_3064203_3443621 | 3212589 | C | CCCCGCTC others(343): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0021 | a0001c0021t0049 | a0001c0021t0049g0023 | 1 | 210 | 0.0048 | 350 | c.387 others(369): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PRDM16_chr1_3064203_3443621 | 3212614 | G | CCTGCGGT others(343): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0194 | 1 | 210 | 0.0048 | 350 | c.387 others(369): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 2/16 | chr1 | TogoVar | |||||||
| PRDM16_chr1_3064203_3443621 | 3212653 | C | CGGTCCTC others(343): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0127 | 1 | 210 | 0.0048 | 350 | c.387 others(369): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PRIMA1_chr14_93713298_93793485 | 93722010 | G | GTGGTGAT others(343): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0138 | 1 | 397 | 0.0025 | 350 | c.360 others(365): Show |
PRIMA1 | ENSG00000175785.13 | transcript | ENST00000393140.6 | protein_coding | 4/4 | chr14 | TogoVar |