| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| FZR1_chr19_3501311_3543334 | 3529702 | GGATGGGA others(677): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0037 | a0001c0001t0007g0049a0001c0001t0037g0061 | 2 | 314 | 0.0064 | -684 | c.655 others(16): Show |
FZR1 | ENSG00000105325.15 | transcript | ENST00000441788.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| FZR1_chr19_3501311_3543334 | 3529709 | AGAGCGGA others(677): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG01346.hp2 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0050 | a0001c0001t0007g0057a0001c0001t0007g0059a0001c0001t0050g0058 | 3 | 314 | 0.0096 | -684 | c.655 others(16): Show |
FZR1 | ENSG00000105325.15 | transcript | ENST00000441788.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| GRTP1_chr13_113319163_113369130 | 113346200 | AGACCCGG others(677): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG03669.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0223a0001c0001t0003g0267 | 2 | 288 | 0.0069 | -684 | c.466 others(17): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | ||||||
| GRTP1_chr13_113319163_113369130 | 113346235 | CGGGAGGA others(677): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp1 NA18945.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0206 | 3 | 288 | 0.0104 | -684 | c.466 others(17): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | ||||||
| NXN_chr17_794310_984776 | 941974 | CCCTGGAT others(677): Show |
C | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 242 | 0.0041 | -684 | c.360 others(19): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 745555 | CGGGGGTC others(677): Show |
C | intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0076 | 1 | 366 | 0.0027 | -684 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 745666 | GCCCGGGG others(677): Show |
G | intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0105 | 1 | 366 | 0.0027 | -684 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 747001 | TTCGCCGT others(677): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG01168.hp2 HG02040.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0013a0001c0001t0059others(2): Show | a0001c0001t0003g0017a0001c0001t0013g0012a0001c0001t0059g0018others(2): Show | 5 | 366 | 0.0137 | -684 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| RPTOR_chr17_80539838_80971368 | 80743821 | CCCTGGCT others(677): Show |
C | intron_variant | MODIFIER | HG02109.hp1 NA18522.hp1 NA18906.hp2 others(1): Show |
a0001 | a0001c0005a0001c0067a0001c0075 | a0001c0005t0026a0001c0005t0067a0001c0067t0068others(1): Show | a0001c0005t0026g0109a0001c0005t0067g0111a0001c0067t0068g0110others(1): Show | 4 | 196 | 0.0204 | -684 | c.655 others(18): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| UBC_chr12_124906646_124919650 | 124911750 | AGTGGACT others(677): Show |
A | disruptive_inframe_deletion | MODERATE | HG01934.hp1 | a0006 | a0006c0026 | a0006c0026t0003 | a0006c0026t0003g0048 | 1 | 446 | 0.0022 | -684 | c.133 others(9): Show |
p.Leu others(13): Show |
UBC | ENSG00000150991.16 | transcript | ENST00000339647.6 | protein_coding | 2/2 | 2088/2193 | 1338/2058 | 446/685 | chr12 | TogoVar | ||
| UBOX5_chr20_3102573_3164865 | 3124539 | CGCCACCC others(677): Show |
C | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0170 | 1 | 384 | 0.0026 | -684 | c.-41 others(17): Show |
UBOX5 | ENSG00000185019.17 | transcript | ENST00000217173.7 | protein_coding | 1/4 | chr20 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1540486 | AGTTCAGA others(676): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG02109.hp1 HG02970.hp2 others(1): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0010 | a0001c0001t0018a0001c0001t0022a0002c0002t0002others(1): Show | a0001c0001t0018g0027a0001c0001t0022g0015a0002c0002t0002g0075others(1): Show | 4 | 106 | 0.0377 | -683 | c.101 others(21): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
| ASB5_chr4_176208673_176274222 | 176218529 | TATAAATA others(676): Show |
T | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 410 | 0.0024 | -683 | c.670 others(17): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
| MBTPS1_chr16_84048763_84121942 | 84051407 | GAGCGGCA others(676): Show |
G | downstream_gene_variant | MODIFIER | HG02970.hp1 HG03486.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0022 | a0001c0001t0011g0255a0001c0001t0022g0256a0001c0001t0022g0257 | 3 | 424 | 0.0071 | -683 | c.*23 others(11): Show |
MBTPS1 | ENSG00000140943.18 | transcript | ENST00000343411.8 | protein_coding | 2355 | chr16 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 744682 | CGAGCAGG others(676): Show |
C | intron_variant | MODIFIER | HG00733.hp2 | a0002 | a0002c0002 | a0002c0002t0046 | a0002c0002t0046g0005 | 1 | 366 | 0.0027 | -683 | c.462 others(14): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 744816 | GGGGGTCG others(676): Show |
G | intron_variant | MODIFIER | HG01358.hp2 HG03688.hp2 NA18993.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0003t0010 | a0001c0001t0002g0166a0001c0001t0003g0017a0001c0001t0003g0035others(1): Show | 4 | 366 | 0.0109 | -683 | c.462 others(15): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 746866 | GGGGGTCG others(676): Show |
G | intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0311 | 1 | 366 | 0.0027 | -683 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 746980 | GGGGTCGC others(676): Show |
G | intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0283 | 1 | 366 | 0.0027 | -683 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PPP1R1C_chr2_181980853_182122756 | 181992187 | GCTTTTCA others(676): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG00639.hp2 HG00738.hp1 others(67): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0102a0001c0001t0001g0123a0001c0001t0001g0129others(64): Show | 70 | 344 | 0.2035 | -683 | c.142 others(17): Show |
PPP1R1C | ENSG00000150722.11 | transcript | ENST00000682840.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| AHRR_chr5_316714_443285 | 358260 | AGGAAGAG others(675): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0007 | a0007c0007 | a0007c0007t0035 | a0007c0007t0035g0222 | 1 | 268 | 0.0037 | -682 | c.244 others(17): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1405072 | AGAGTCGT others(675): Show |
A | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0003 | a0001c0003t0017 | a0001c0003t0017g0004 | 1 | 40 | 0.0250 | -682 | c.107 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ERC1_chr12_986223_1500931 | 1121947 | ATCTCTAT others(675): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01993.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0083a0002c0002t0026 | a0001c0001t0083g0130a0002c0002t0026g0115 | 2 | 162 | 0.0124 | -682 | c.156 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| FAM220A_chr7_6324411_6353967 | 6337368 | CGCCTCAG others(675): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG01515.hp1 HG02572.hp2 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(2): Show | a0001c0001t0001g0347a0001c0001t0001g0379a0001c0002t0001g0391others(5): Show | 8 | 420 | 0.0191 | -682 | c.-81 others(17): Show |
FAM220A | ENSG00000178397.13 | transcript | ENST00000313324.9 | protein_coding | 1/1 | chr7 | TogoVar | ||||||
| GRTP1_chr13_113319163_113369130 | 113346283 | TGAGCGGA others(675): Show |
T | intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 288 | 0.0035 | -682 | c.466 others(17): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | ||||||
| GRTP1_chr13_113319163_113369130 | 113346381 | CCTGGGAG others(675): Show |
C | intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 288 | 0.0035 | -682 | c.466 others(17): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | ||||||
| OR4S1_chr11_48301223_48312152 | 48305936 | TTATTATA others(675): Show |
T | start_lost others(1): Show |
HIGH | HG01346.hp2 HG02735.hp2 NA20129.hp2 |
a0004 | a0004c0003 | a0004c0003t0000 | a0004c0003t0000g0000 | 3 | 426 | 0.0070 | -682 | c.-28 others(8): Show |
p.Met others(11): Show |
OR4S1 | ENSG00000176555.1 | transcript | ENST00000319988.1 | protein_coding | 1/1 | 1/930 | 1/309 | chr11 | TogoVar | |||
| PCGF3_chr4_700832_775089 | 745553 | CCCGGGGG others(675): Show |
C | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0014 | 1 | 366 | 0.0027 | -682 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 745841 | GGGGGTCG others(675): Show |
G | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 NA19030.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0002c0002t0001 | a0001c0001t0009g0248a0002c0002t0001g0228a0002c0002t0001g0231 | 3 | 366 | 0.0082 | -682 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 745866 | TCCGTGGA others(675): Show |
T | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0333 | 1 | 366 | 0.0027 | -682 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| RIPK1_chr6_3063494_3120187 | 3092590 | CGCGCCTA others(675): Show |
C | intron_variant | MODIFIER | HG00558.hp2 NA18946.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0026a0001c0002t0002 | a0001c0001t0026g0253a0001c0002t0002g0014 | 2 | 340 | 0.0059 | -682 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| RIPK1_chr6_3063494_3120187 | 3092736 | TAACCGCA others(675): Show |
T | intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 | 1 | 340 | 0.0029 | -682 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| RIPK1_chr6_3063494_3120187 | 3092900 | CGCGCCTA others(675): Show |
C | intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 340 | 0.0029 | -682 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SAGSIN1_chr7_6324411_6353967 | 6337368 | CGCCTCAG others(675): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG01515.hp1 HG02572.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0347a0001c0001t0001g0379a0001c0001t0002g0391others(5): Show | 8 | 420 | 0.0191 | -682 | c.187 others(17): Show |
SAGSIN1 | ENSG00000286075.3 | transcript | ENST00000578372.2 | protein_coding | 1/1 | chr7 | TogoVar | ||||||
| VPS53_chr17_503668_719839 | 506392 | TCTAGAAG others(675): Show |
T | downstream_gene_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0007 | a0001c0007t0062 | a0001c0007t0062g0104 | 1 | 232 | 0.0043 | -682 | c.*12 others(13): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 2275 | chr17 | TogoVar | ||||||
| CNTN5_chr11_99015949_100363885 | 99314729 | AGGAAAGG others(674): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01169.hp1 HG01243.hp2 others(2): Show |
a0001a0006a0010 | a0001c0001a0006c0006a0010c0010 | a0001c0001t0005a0001c0001t0009a0001c0001t0014others(2): Show | a0001c0001t0005g0014a0001c0001t0009g0043a0001c0001t0014g0016others(2): Show | 5 | 66 | 0.0758 | -681 | c.-20 others(20): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 1/24 | chr11 | TogoVar | ||||||
| MPPED1_chr22_43407014_43512848 | 43495235 | GGTGGTGG others(674): Show |
G | intron_variant | MODIFIER | HG03491.hp1 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016 | a0001c0001t0002g0139a0001c0001t0016g0136 | 2 | 250 | 0.0080 | -681 | c.633 others(17): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| RP1L1_chr8_10601349_10660143 | 10607807 | TTCTGGCT others(674): Show |
T | disruptive_inframe_deletion | MODERATE | HG00558.hp2 NA18989.hp1 NA19011.hp2 others(2): Show |
a0013a0019 | a0013c0209a0019c0014 | a0013c0209t0001a0019c0014t0001 | a0013c0209t0001g0064a0019c0014t0001g0140a0019c0014t0001g0182others(2): Show | 5 | 414 | 0.0121 | -681 | c.561 others(9): Show |
p.Ser others(15): Show |
RP1L1 | ENSG00000183638.6 | transcript | ENST00000382483.4 | protein_coding | 4/4 | 6555/8014 | 5610/7203 | 1870/2400 | chr8 | TogoVar | ||
| SHISA5_chr3_48462876_48509174 | 48480632 | ACCTGTAA others(674): Show |
A | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 290 | 0.0035 | -681 | c.234 others(17): Show |
SHISA5 | ENSG00000164054.17 | transcript | ENST00000296444.7 | protein_coding | 2/5 | chr3 | TogoVar | ||||||
| ASMT_chrX_1610059_1648081 | 1616178 | ACCACCAC others(673): Show |
A | intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 223 | 0.0045 | -680 | c.69+ others(14): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| CYP4F11_chr19_15907377_15939529 | 15931543 | GGGAGAGG others(673): Show |
G | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0004 | a0001c0004t0026 | a0001c0004t0026g0213 | 1 | 386 | 0.0026 | -680 | c.198 others(17): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
| EFCAB6_chr22_43523778_43817305 | 43578965 | CATAGGCA others(673): Show |
C | intron_variant | MODIFIER | HG03041.hp2 HG03579.hp1 |
a0024a0027 | a0024c0033a0027c0030 | a0024c0033t0001a0027c0030t0009 | a0024c0033t0001g0181a0027c0030t0009g0290 | 2 | 290 | 0.0069 | -680 | c.322 others(18): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 25/31 | chr22 | TogoVar | ||||||
| EXOC2_chr6_480154_698139 | 601195 | TCCCCTTG others(673): Show |
T | intron_variant | MODIFIER | HG03669.hp2 HG04184.hp1 NA18969.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0003a0001c0003t0016 | a0001c0003t0001g0068a0001c0003t0003g0012a0001c0003t0003g0185others(1): Show | 4 | 272 | 0.0147 | -680 | c.743 others(17): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 7/27 | chr6 | TogoVar | ||||||
| GAN_chr16_81309962_81395809 | 81384368 | TTGCTGCA others(673): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0094 | a0001c0001t0094g0027 | 1 | 384 | 0.0026 | -680 | c.*67 others(11): Show |
GAN | ENSG00000261609.8 | transcript | ENST00000648994.2 | protein_coding | 11/11 | 6773 | chr16 | TogoVar | |||||
| LUC7L_chr16_183990_234449 | 186034 | AGGAATAC others(673): Show |
A | downstream_gene_variant | MODIFIER | HG01123.hp2 HG01255.hp2 HG02293.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140a0001c0001t0001g0195a0001c0001t0001g0209others(4): Show | 7 | 350 | 0.0200 | -680 | c.*24 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2955 | chr16 | TogoVar | ||||||
| LUC7L_chr16_183990_234449 | 186578 | GGGAACAG others(673): Show |
G | downstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 350 | 0.0029 | -680 | c.*19 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2411 | chr16 | TogoVar | ||||||
| PIEZO1_chr16_88710338_88790220 | 88728508 | GCTGAACC others(673): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG01106.hp1 others(4): Show |
a0003a0010a0067 | a0003c0083a0010c0011a0010c0080others(1): Show | a0003c0083t0002a0010c0011t0004a0010c0080t0004others(1): Show | a0003c0083t0002g0161a0010c0011t0004g0162a0010c0011t0004g0163others(4): Show | 7 | 282 | 0.0248 | -680 | c.319 others(18): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 22/50 | chr16 | TogoVar | ||||||
| PIEZO1_chr16_88710338_88790220 | 88728826 | CATGCTGG others(673): Show |
C | intron_variant | MODIFIER | HG00621.hp2 | a0075 | a0075c0119 | a0075c0119t0001 | a0075c0119t0001g0141 | 1 | 282 | 0.0036 | -680 | c.319 others(19): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 22/50 | chr16 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1094194 | AAAGGCCT others(673): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp2 HG02572.hp2 others(3): Show |
a0004a0009a0010others(1): Show | a0004c0004a0009c0029a0010c0012others(1): Show | a0004c0004t0001a0004c0004t0002a0009c0029t0001others(2): Show | a0004c0004t0001g0047a0004c0004t0001g0089a0004c0004t0002g0074others(3): Show | 6 | 190 | 0.0316 | -680 | c.211 others(17): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1345083 | TTTTCCCC others(673): Show |
T | intron_variant | MODIFIER | HG03579.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0086 | 1 | 190 | 0.0053 | -680 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TEK_chr9_27104225_27235174 | 27138545 | GACCCAGG others(673): Show |
G | intron_variant | MODIFIER | HG03540.hp2 | a0003 | a0003c0020 | a0003c0020t0014 | a0003c0020t0014g0041 | 1 | 340 | 0.0029 | -680 | c.53- others(17): Show |
TEK | ENSG00000120156.22 | transcript | ENST00000380036.10 | protein_coding | 1/22 | chr9 | TogoVar |