| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EXOC6B_chr2_72170984_72831033 | 72401513 | ATACATAT others(147): Show |
A | intron_variant | MODIFIER | HG02965.hp1 HG03516.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0006 | a0001c0001t0003g0053a0001c0002t0006g0010 | 2 | 104 | 0.0192 | -154 | c.198 others(21): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 18/21 | chr2 | TogoVar | ||||||
| FAM120B_chr6_170301758_170412067 | 170399832 | GGGAAGGT others(147): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG03017.hp1 HG03225.hp2 |
a0001a0005 | a0001c0002a0005c0007 | a0001c0002t0004a0005c0007t0012 | a0001c0002t0004g0025a0005c0007t0012g0002 | 3 | 289 | 0.0104 | -154 | c.269 others(19): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| FEZ1_chr11_125437881_125501265 | 125493356 | AGAGAGAA others(147): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG02109.hp2 HG02258.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0011 | a0001c0001t0001g0008a0001c0001t0005g0007a0001c0001t0011g0006others(1): Show | 4 | 356 | 0.0112 | -154 | c.-46 others(17): Show |
FEZ1 | ENSG00000149557.14 | transcript | ENST00000278919.8 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
| FMN1_chr15_32760544_33199714 | 32777798 | GTATAATA others(147): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG01243.hp2 HG01257.hp1 others(17): Show |
a0001a0002a0005others(11): Show | a0001c0002a0001c0070a0002c0003others(14): Show | a0001c0002t0007a0001c0002t0063a0001c0002t0065others(17): Show | a0001c0002t0007g0187a0001c0002t0063g0019a0001c0002t0065g0009others(17): Show | 20 | 196 | 0.1020 | -154 | c.413 others(18): Show |
FMN1 | ENSG00000248905.10 | transcript | ENST00000616417.5 | protein_coding | 19/20 | chr15 | TogoVar | ||||||
| FOXQ1_chr6_1307098_1319758 | 1319604 | CGGTGGCG others(147): Show |
C | downstream_gene_variant | MODIFIER | HG02886.hp2 NA18968.hp1 NA18978.hp2 others(1): Show |
a0003a0007 | a0003c0002a0007c0010 | a0003c0002t0004a0007c0010t0003 | a0003c0002t0004g0000a0007c0010t0003g0000 | 4 | 406 | 0.0099 | -154 | c.*56 others(11): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 4847 | chr6 | TogoVar | ||||||
| GATA5_chr20_62458497_62480995 | 62476945 | CTTTTCTT others(147): Show |
C | upstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0215 | 1 | 382 | 0.0026 | -154 | c.-11 others(11): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 951 | chr20 | TogoVar | ||||||
| GLB1L3_chr11_134271379_134324564 | 134308175 | CCACCATC others(147): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00544.hp2 others(55): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0002others(6): Show | a0001c0001t0001g0012a0001c0001t0001g0035a0001c0001t0001g0082others(47): Show | 58 | 422 | 0.1374 | -154 | c.961 others(17): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| GNG12_chr1_67696475_67838467 | 67710052 | ATATATAT others(147): Show |
A | intron_variant | MODIFIER | HG02040.hp1 NA18990.hp2 NA19089.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061a0001c0001t0002g0105a0001c0001t0002g0248 | 3 | 274 | 0.0110 | -154 | c.-26 others(17): Show |
GNG12 | ENSG00000172380.6 | transcript | ENST00000370982.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
| GTPBP6_chrX_299759_323796 | 321891 | CAAAAAAA others(147): Show |
C | upstream_gene_variant | MODIFIER | NA18967.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0141 | 1 | 155 | 0.0065 | -154 | c.-32 others(11): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 3096 | chrX | TogoVar | ||||||
| HRH3_chr20_62209960_62225278 | 62213172 | GGGGTAAG others(147): Show |
G | downstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0038 | 1 | 368 | 0.0027 | -154 | c.*26 others(11): Show |
HRH3 | ENSG00000101180.17 | transcript | ENST00000340177.10 | protein_coding | 1787 | chr20 | TogoVar | ||||||
| IL19_chr1_206765773_206847981 | 206781841 | GGTTATAT others(147): Show |
G | intron_variant | MODIFIER | HG03225.hp2 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0312a0001c0001t0003g0249 | 2 | 366 | 0.0055 | -154 | c.-14 others(21): Show |
IL19 | ENSG00000142224.18 | transcript | ENST00000659997.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| IL19_chr1_206765773_206847981 | 206781911 | ATGTATAT others(147): Show |
A | intron_variant | MODIFIER | NA18980.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0351 | 1 | 366 | 0.0027 | -154 | c.-14 others(21): Show |
IL19 | ENSG00000142224.18 | transcript | ENST00000659997.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| INPP4B_chr4_142018160_142851301 | 142245822 | ATGTGTAT others(147): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00642.hp1 HG01070.hp1 others(19): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0011others(15): Show | a0001c0001t0002g0048a0001c0001t0006g0042a0001c0001t0006g0047others(19): Show | 22 | 90 | 0.2444 | -154 | c.689 others(17): Show |
INPP4B | ENSG00000109452.13 | transcript | ENST00000262992.9 | protein_coding | 11/25 | chr4 | TogoVar | ||||||
| IQCM_chr4_149346709_149820843 | 149368882 | ATATATAT others(147): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG02572.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0025a0001c0001t0002g0186a0001c0001t0002g0226others(5): Show | 8 | 252 | 0.0318 | -154 | c.139 others(21): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 13/13 | chr4 | TogoVar | ||||||
| JAKMIP3_chr10_132060946_132189858 | 132160925 | TCTCTTCC others(147): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0100a0001c0001t0008g0142 | 2 | 158 | 0.0127 | -154 | c.222 others(19): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | chr10 | TogoVar | ||||||
| JAKMIP3_chr10_132060946_132189858 | 132161062 | TCTGTGTG others(147): Show |
T | intron_variant | MODIFIER | HG02717.hp1 NA19043.hp1 |
a0001a0004 | a0001c0017a0004c0043 | a0001c0017t0005a0004c0043t0005 | a0001c0017t0005g0079a0004c0043t0005g0125 | 2 | 158 | 0.0127 | -154 | c.222 others(19): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| KCNIP4_chr4_20723606_21953772 | 21714935 | TTTTATTT others(147): Show |
T | intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0049 | 1 | 80 | 0.0125 | -154 | c.61+ others(19): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
| KIF4A_chrX_70285104_70425886 | 70373528 | ATATATAT others(147): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG02615.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0014a0001c0006t0001g0016a0001c0006t0001g0017others(1): Show | 4 | 259 | 0.0154 | -154 | c.167 others(17): Show |
KIF4A | ENSG00000090889.12 | transcript | ENST00000374403.4 | protein_coding | 15/30 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| KLK4_chr19_50901351_50916395 | 50914228 | GTCTGTCC others(147): Show |
G | upstream_gene_variant | MODIFIER | HG01257.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 2 | 414 | 0.0048 | -154 | c.-30 others(11): Show |
KLK4 | ENSG00000167749.12 | transcript | ENST00000324041.6 | protein_coding | 2834 | chr19 | TogoVar | ||||||
| KRTAP10-1_chr21_44533981_44545195 | 44537144 | TAGTTTAA others(147): Show |
T | downstream_gene_variant | MODIFIER | HG02895.hp1 HG03195.hp2 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 4 | 438 | 0.0091 | -154 | c.*20 others(11): Show |
KRTAP10-1 | ENSG00000215455.4 | transcript | ENST00000400375.1 | protein_coding | 1836 | chr21 | TogoVar | ||||||
| LIPG_chr18_49557057_49604185 | 49579027 | GGAGAGGG others(147): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0033a0001c0001t0083 | a0001c0001t0033g0276a0001c0001t0083g0274 | 2 | 384 | 0.0052 | -154 | c.794 others(17): Show |
LIPG | ENSG00000101670.12 | transcript | ENST00000261292.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| MAFF_chr22_38196994_38221507 | 38217174 | AAAAACAA others(147): Show |
A | downstream_gene_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0003 | a0001c0003t0025 | a0001c0003t0025g0069 | 1 | 388 | 0.0026 | -154 | c.*22 others(11): Show |
MAFF | ENSG00000185022.12 | transcript | ENST00000338483.7 | protein_coding | 668 | chr22 | TogoVar | ||||||
| MAPK8IP3_chr16_1701195_1775351 | 1737983 | CGTGTGAC others(147): Show |
C | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0216a0001c0001t0005g0221 | 2 | 330 | 0.0061 | -154 | c.603 others(17): Show |
MAPK8IP3 | ENSG00000138834.15 | transcript | ENST00000610761.2 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| METTL24_chr6_110238940_110363349 | 110302495 | GTATATAT others(147): Show |
G | intron_variant | MODIFIER | HG02572.hp1 HG03453.hp1 NA18522.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0016a0001c0002t0016 | a0001c0001t0016g0253a0001c0002t0016g0047a0001c0002t0016g0111 | 3 | 268 | 0.0112 | -154 | c.558 others(17): Show |
METTL24 | ENSG00000053328.9 | transcript | ENST00000338882.5 | protein_coding | 3/4 | chr6 | TogoVar | ||||||
| MLPH_chr2_237482251_237560322 | 237544993 | GGGACAGT others(147): Show |
G | intron_variant | MODIFIER | HG01346.hp2 NA18971.hp1 NA19003.hp2 others(2): Show |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0001a0007c0007t0002 | a0001c0001t0001g0033a0001c0001t0001g0192a0007c0007t0002g0030others(2): Show | 5 | 286 | 0.0175 | -154 | c.154 others(19): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MOBP_chr3_39462680_39508027 | 39468792 | GTGTATAT others(147): Show |
G | intron_variant | MODIFIER | HG02818.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0222a0001c0001t0002g0232 | 2 | 400 | 0.0050 | -154 | c.-89 others(17): Show |
MOBP | ENSG00000168314.19 | transcript | ENST00000684792.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| MYOM2_chr8_2040046_2150456 | 2085527 | TGTGATCT others(147): Show |
T | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0083 | 1 | 403 | 0.0025 | -154 | c.164 others(17): Show |
MYOM2 | ENSG00000036448.10 | transcript | ENST00000262113.9 | protein_coding | 14/36 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| NDC80_chr18_2566557_2621635 | 2614439 | AAAAGAAA others(147): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 | 1 | 402 | 0.0025 | -154 | c.179 others(19): Show |
NDC80 | ENSG00000080986.13 | transcript | ENST00000261597.9 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| NFATC1_chr18_79390930_79534323 | 79424777 | GTCTCTCT others(147): Show |
G | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0054 | a0001c0054t0041 | a0001c0054t0041g0007 | 1 | 322 | 0.0031 | -154 | c.122 others(19): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| NLRP8_chr19_55942832_55993629 | 55993453 | CCCTCTCT others(147): Show |
C | downstream_gene_variant | MODIFIER | HG00544.hp2 | a0000 | a0000c0059 | a0000c0059t0004 | a0000c0059t0004g0302 | 1 | 350 | 0.0029 | -154 | c.*55 others(11): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 4825 | chr19 | TogoVar | ||||||
| NPAS1_chr19_47014837_47050775 | 47027492 | CTCTGCCC others(147): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00621.hp1 others(80): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0008a0001c0001t0001g0025a0001c0001t0001g0027others(80): Show | 83 | 418 | 0.1986 | -154 | c.359 others(17): Show |
NPAS1 | ENSG00000130751.10 | transcript | ENST00000602212.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NUP205_chr7_135552917_135653753 | 135605782 | ATTTTATG others(147): Show |
A | intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0142 | 1 | 352 | 0.0028 | -154 | c.282 others(17): Show |
NUP205 | ENSG00000155561.15 | transcript | ENST00000285968.11 | protein_coding | 19/42 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| OTUD7A_chr15_31470398_31875673 | 31510605 | AACATACA others(147): Show |
A | intron_variant | MODIFIER | HG00609.hp2 NA18981.hp2 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0132a0001c0001t0002g0157a0001c0001t0004g0169 | 3 | 244 | 0.0123 | -154 | c.894 others(17): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | ||||||
| OTUD7A_chr15_31470398_31875673 | 31510680 | AACATACA others(147): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0005 | a0002c0005t0017 | a0002c0005t0017g0239 | 1 | 244 | 0.0041 | -154 | c.894 others(17): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | ||||||
| OXSR1_chr3_38160537_38260484 | 38161920 | GTCATATA others(147): Show |
G | upstream_gene_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0197 | 1 | 248 | 0.0040 | -154 | c.-39 others(11): Show |
OXSR1 | ENSG00000172939.9 | transcript | ENST00000311806.8 | protein_coding | 3616 | chr3 | TogoVar | ||||||
| PARD3B_chr2_204540475_205625162 | 204998360 | GTGTGTGT others(147): Show |
G | intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0053 | 1 | 54 | 0.0185 | -154 | c.394 others(19): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 736920 | CGGGACGC others(147): Show |
C | intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0003 | a0001c0003t0015 | a0001c0003t0015g0084 | 1 | 366 | 0.0027 | -154 | c.207 others(15): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PDE4DIP_chr1_148839428_149038016 | 149023662 | GTGTGCAC others(147): Show |
G | intron_variant | MODIFIER | HG03579.hp2 | a0008 | a0008c0012 | a0008c0012t0008 | a0008c0012t0008g0005 | 1 | 24 | 0.0417 | -154 | c.628 others(17): Show |
PDE4DIP | ENSG00000178104.22 | transcript | ENST00000695795.1 | protein_coding | 40/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PDZRN4_chr12_41183320_41579745 | 41402390 | TATATATA others(147): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02896.hp2 HG06807.hp1 |
a0001a0020 | a0001c0001a0001c0013a0020c0033 | a0001c0001t0002a0001c0013t0001a0020c0033t0006 | a0001c0001t0002g0154a0001c0013t0001g0085a0020c0033t0006g0093 | 3 | 206 | 0.0146 | -154 | c.844 others(21): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PGBD5_chr1_230309490_230431332 | 230429102 | CAATGCCC others(147): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0130 | 1 | 288 | 0.0035 | -154 | c.-33 others(11): Show |
PGBD5 | ENSG00000177614.11 | transcript | ENST00000391860.7 | protein_coding | 2771 | chr1 | TogoVar | ||||||
| PKP3_chr11_389209_409908 | 401008 | CCGGACCC others(147): Show |
C | intron_variant | MODIFIER | HG01175.hp1 | a0004 | a0004c0015 | a0004c0015t0001 | a0004c0015t0001g0041 | 1 | 216 | 0.0046 | -154 | c.173 others(17): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PKP3_chr11_389209_409908 | 401102 | CCGGCCCC others(147): Show |
C | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0005 | 1 | 216 | 0.0046 | -154 | c.173 others(17): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PKP3_chr11_389209_409908 | 401412 | CGGCCCCG others(147): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0006 | 1 | 216 | 0.0046 | -154 | c.173 others(17): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PLCB1_chr20_8127266_8889900 | 8493877 | CGAACCTC others(147): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01071.hp1 HG01517.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(4): Show | a0001c0001t0001g0015a0001c0001t0003g0057a0001c0003t0001g0083others(4): Show | 7 | 106 | 0.0660 | -154 | c.246 others(21): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| PLCB1_chr20_8127266_8889900 | 8493968 | TAGTCCTT others(147): Show |
T | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG03041.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0003others(3): Show | a0001c0001t0001g0063a0001c0001t0002g0050a0001c0004t0003g0016others(3): Show | 6 | 106 | 0.0566 | -154 | c.246 others(21): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| PODXL2_chr3_127624185_127677802 | 127657867 | TTCTTCTA others(147): Show |
T | intron_variant | MODIFIER | NA18950.hp1 | a0006 | a0006c0014 | a0006c0014t0001 | a0006c0014t0001g0212 | 1 | 402 | 0.0025 | -154 | c.350 others(17): Show |
PODXL2 | ENSG00000114631.11 | transcript | ENST00000342480.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PPP1R12C_chr19_55085918_55122637 | 55096807 | ACCCCTTC others(147): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00438.hp2 others(67): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0004t0001 | a0001c0001t0001g0045a0001c0001t0001g0233a0001c0002t0001g0001others(39): Show | 70 | 390 | 0.1795 | -154 | c.952 others(15): Show |
PPP1R12C | ENSG00000125503.13 | transcript | ENST00000263433.8 | protein_coding | 6/21 | chr19 | TogoVar | ||||||
| PPP6R2_chr22_50338327_50450090 | 50381256 | TCACACGG others(147): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(84): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(26): Show | a0001c0001t0001g0074a0001c0001t0001g0076a0001c0001t0001g0077others(84): Show | 87 | 340 | 0.2559 | -154 | c.-17 others(17): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| PRKD1_chr14_29571479_29932847 | 29826338 | ATATATAC others(147): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG01884.hp1 HG02965.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(2): Show | a0001c0001t0001g0064a0001c0001t0001g0089a0001c0001t0002g0078others(3): Show | 6 | 156 | 0.0385 | -154 | c.264 others(21): Show |
PRKD1 | ENSG00000184304.17 | transcript | ENST00000331968.11 | protein_coding | 1/17 | chr14 | TogoVar | ||||||
| PSMF1_chr20_1113602_1177246 | 1114732 | TCAAGGGG others(147): Show |
T | upstream_gene_variant | MODIFIER | HG01891.hp2 HG01952.hp1 HG02145.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0020a0001c0001t0025others(2): Show | a0001c0001t0016g0150a0001c0001t0016g0151a0001c0001t0016g0152others(7): Show | 10 | 326 | 0.0307 | -154 | c.-40 others(11): Show |
PSMF1 | ENSG00000125818.18 | transcript | ENST00000335877.11 | protein_coding | 3869 | chr20 | TogoVar |