view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GTPBP6_chrX_299759_323796 | 315827 | C | CACACAAA others(458): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0002 | a0002c0037 | a0002c0037t0003 | a0002c0037t0003g0133 | 1 | 155 | 0.0065 | 465 | c.488 others(480): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 315827 | C | CACACAAA others(458): Show |
intron_variant | MODIFIER | HG02080.hp2 NA19077.hp1 NA19082.hp1 |
a0005a0010a0026 | a0005c0010a0010c0013a0026c0018 | a0005c0010t0001a0010c0013t0001a0026c0018t0002 | a0005c0010t0001g0024 a0010c0013t0001g0134 a0026c0018t0002g0018 |
3 | 155 | 0.0194 | 465 | c.488 others(480): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
HIVEP3_chr1_41501365_41923922 | 41544820 | T | TACCACCA others(458): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02622.hp1 HG03130.hp1 |
a0011a0025 | a0011c0013a0025c0019 | a0011c0013t0005a0025c0019t0015 | a0011c0013t0005g0002 a0011c0013t0005g0039 a0025c0019t0015g0057 |
3 | 134 | 0.0224 | 465 | c.520 others(486): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
ICA1_chr7_8108184_8267167 | 8152787 | A | ACCTCCTC others(458): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088 | 1 | 274 | 0.0037 | 465 | c.804 others(482): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(458): Show |
upstream_gene_variant | MODIFIER | HG02698.hp1 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0171 a0001c0001t0003g0175 |
2 | 323 | 0.0062 | 465 | c.-36 others(476): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(458): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 NA18967.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0178 a0001c0001t0003g0182 |
2 | 323 | 0.0062 | 465 | c.-36 others(476): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GATGGGCA others(458): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 204 | 0.0049 | 465 | c.978 others(482): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | chr10 | TogoVar | |||||||
INSR_chr19_7107265_7299414 | 7153374 | C | CACCACAC others(458): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0030 | a0001c0030t0155 | a0001c0030t0155g0283 | 1 | 300 | 0.0033 | 465 | c.203 others(482): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 9/21 | chr19 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173126 | C | CTCTCTCT others(458): Show |
intron_variant | MODIFIER | NA18971.hp2 NA18999.hp1 NA19088.hp2 |
a0001a0003 | a0001c0001a0003c0002a0003c0003 | a0001c0001t0002a0003c0002t0002a0003c0003t0002 | a0001c0001t0002g0114 a0003c0002t0002g0107 a0003c0003t0002g0056 |
3 | 158 | 0.0190 | 465 | c.*11 others(486): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173126 | C | CTCTCTCT others(458): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0006 | a0006c0041 | a0006c0041t0029 | a0006c0041t0029g0019 | 1 | 158 | 0.0063 | 465 | c.*11 others(486): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 514222 | T | TCCTCCCT others(458): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0006 | a0006c0018 | a0006c0018t0002 | a0006c0018t0002g0222 | 1 | 254 | 0.0039 | 465 | c.-84 others(482): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KDM4B_chr19_4964113_5158598 | 5131604 | A | AGGGGGCA others(458): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0129 | 1 | 270 | 0.0037 | 465 | c.178 others(482): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
KIF1A_chr2_240708767_240825219 | 240786744 | G | GCCCCTGA others(458): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0130 | 1 | 330 | 0.0030 | 465 | c.430 others(480): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 5/48 | chr2 | TogoVar | |||||||
KLHL23_chr2_169728832_169756878 | 169738992 | T | TCTCCCCC others(458): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0054 | 1 | 400 | 0.0025 | 465 | c.121 others(484): Show |
KLHL23 | ENSG00000213160.10 | transcript | ENST00000392647.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(458): Show |
upstream_gene_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 370 | 0.0027 | 465 | c.-27 others(476): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
LAMA2_chr6_128878138_129521566 | 129385145 | G | GGAAAAAG others(458): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02965.hp2 |
a0011 | a0011c0008 | a0011c0008t0002 | a0011c0008t0002g0084 a0011c0008t0002g0085 |
2 | 88 | 0.0227 | 465 | c.507 others(484): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 35/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LAP3_chr4_17572198_17612970 | 17580184 | A | ATATATAT others(458): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0161 | 1 | 300 | 0.0033 | 465 | c.218 others(480): Show |
LAP3 | ENSG00000002549.13 | transcript | ENST00000226299.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507825 | A | AGGGTAGA others(458): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0058 | 1 | 260 | 0.0039 | 465 | c.625 others(482): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LRRC24_chr8_144517388_144532033 | 144531191 | A | AGAGCAGC others(458): Show |
upstream_gene_variant | MODIFIER | NA18947.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 398 | 0.0025 | 465 | c.-42 others(476): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4159 | chr8 | TogoVar | |||||||
MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGGAG others(458): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0227 | 1 | 280 | 0.0036 | 465 | c.641 others(480): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195776774 | C | CCCATACC others(458): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0061 | a0061c0040 | a0061c0040t0001 | a0061c0040t0001g0179 | 1 | 249 | 0.0040 | 465 | c.129 others(486): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195777015 | C | CCATACCT others(458): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0085 | a0085c0194 | a0085c0194t0004 | a0085c0194t0004g0242 | 1 | 249 | 0.0040 | 465 | c.129 others(486): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195777707 | A | ATACCTTC others(458): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0073 | a0073c0203 | a0073c0203t0009 | a0073c0203t0009g0237 | 1 | 249 | 0.0040 | 465 | c.129 others(484): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158668243 | T | TCCCTTAC others(458): Show |
intron_variant | MODIFIER | HG02080.hp2 NA18991.hp1 NA19057.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0296 |
3 | 378 | 0.0079 | 465 | c.147 others(484): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158668244 | C | CCTTACCT others(458): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 378 | 0.0027 | 465 | c.147 others(484): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158668244 | C | CCTTACCT others(458): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0283 | 1 | 378 | 0.0027 | 465 | c.147 others(484): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
NDUFV3_chr21_42888309_42918299 | 42894364 | A | ATAATATA others(458): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 |
a0002 | a0002c0002 | a0002c0002t0014a0002c0002t0037 | a0002c0002t0014g0019 a0002c0002t0037g0019 |
2 | 348 | 0.0058 | 465 | c.48+ others(478): Show |
NDUFV3 | ENSG00000160194.18 | transcript | ENST00000354250.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
NDUFV3_chr21_42888309_42918299 | 42894401 | T | TTATATAA others(458): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0177 | 1 | 348 | 0.0029 | 465 | c.48+ others(480): Show |
NDUFV3 | ENSG00000160194.18 | transcript | ENST00000354250.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
NME4_chr16_392199_405754 | 397716 | G | GTGAGGGA others(458): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0173 | 1 | 356 | 0.0028 | 465 | c.91+ others(478): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136535916 | C | CGGGGCAA others(458): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02970.hp1 NA20129.hp1 |
a0001a0033 | a0001c0001a0001c0026a0033c0053 | a0001c0001t0034a0001c0026t0001a0033c0053t0001 | a0001c0001t0034g0321 a0001c0026t0001g0202 a0033c0053t0001g0203 |
3 | 324 | 0.0093 | 465 | c.140 others(482): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136535983 | T | TGGTGGGT others(458): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0209 | 1 | 324 | 0.0031 | 465 | c.140 others(482): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NRDE2_chr14_90262860_90336941 | 90300868 | A | AGGAGGGG others(458): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0112 | 1 | 344 | 0.0029 | 465 | c.154 others(482): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 7/13 | chr14 | TogoVar | |||||||
NRDE2_chr14_90262860_90336941 | 90300885 | G | GGGGAGGG others(458): Show |
intron_variant | MODIFIER | HG02027.hp2 NA18995.hp2 |
a0002 | a0002c0002 | a0002c0002t0148a0002c0002t0151 | a0002c0002t0148g0329 a0002c0002t0151g0328 |
2 | 344 | 0.0058 | 465 | c.154 others(482): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 7/13 | chr14 | TogoVar | |||||||
NRDE2_chr14_90262860_90336941 | 90300885 | G | GGGGAGGG others(458): Show |
intron_variant | MODIFIER | HG03927.hp2 homoSapiens_chm13v2.hp1 |
a0002 | a0002c0002 | a0002c0002t0132a0002c0002t0135 | a0002c0002t0132g0055 a0002c0002t0135g0085 |
2 | 344 | 0.0058 | 465 | c.154 others(482): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 7/13 | chr14 | TogoVar | |||||||
NRDE2_chr14_90262860_90336941 | 90300885 | G | GGGGAGGG others(458): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0002 | a0002c0002 | a0002c0002t0140 | a0002c0002t0140g0029 | 1 | 344 | 0.0029 | 465 | c.154 others(482): Show |
NRDE2 | ENSG00000119720.18 | transcript | ENST00000354366.8 | protein_coding | 7/13 | chr14 | TogoVar | |||||||
NTN3_chr16_2466297_2479145 | 2466524 | A | ATACAAAA others(458): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 300 | 0.0067 | 465 | c.-51 others(476): Show |
NTN3 | ENSG00000162068.2 | transcript | ENST00000293973.2 | protein_coding | 4772 | chr16 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841443 | T | TCCCCCCG others(458): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0112 | 1 | 242 | 0.0041 | 465 | c.361 others(484): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841642 | T | TGACCACG others(458): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 | 1 | 242 | 0.0041 | 465 | c.361 others(484): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(458): Show |
downstream_gene_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 400 | 0.0025 | 465 | c.*70 others(476): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(458): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 400 | 0.0025 | 465 | c.*70 others(476): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
PCSK5_chr9_75885673_76367975 | 76063964 | C | CCCCCCCA others(458): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01168.hp2 HG01169.hp2 others(1): Show |
a0002a0005 | a0002c0016a0005c0002 | a0002c0016t0019a0005c0002t0009 | a0002c0016t0019g0064 a0005c0002t0009g0153 a0005c0002t0009g0160 others(1): Show |
4 | 166 | 0.0241 | 465 | c.633 others(482): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 401106 | C | CCCCGCTC others(458): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0080 | 1 | 216 | 0.0046 | 465 | c.173 others(482): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2123896 | A | AGGGTCAA others(458): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 286 | 0.0035 | 465 | c.335 others(484): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2124224 | C | CGGCTATA others(458): Show |
intron_variant | MODIFIER | HG01517.hp1 HG02896.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0205 a0001c0002t0001g0211 |
2 | 286 | 0.0070 | 465 | c.335 others(484): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRR20A_chr13_57135918_57148939 | 57140439 | C | CCATCGCG others(458): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00558.hp2 others(42): Show |
a0001a0012a0014 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(15): Show |
45 | 330 | 0.1364 | 465 | c.-71 others(474): Show |
PRR20A | ENSG00000204919.1 | transcript | ENST00000377931.1 | protein_coding | 478 | chr13 | TogoVar | |||||||
PRR20A_chr13_57135918_57148939 | 57140439 | C | CCATCGCG others(458): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG01123.hp1 HG01167.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0003g0001 a0001c0002t0001g0001 others(4): Show |
14 | 330 | 0.0424 | 465 | c.-71 others(474): Show |
PRR20A | ENSG00000204919.1 | transcript | ENST00000377931.1 | protein_coding | 478 | chr13 | TogoVar | |||||||
PSMF1_chr20_1113602_1177246 | 1149893 | C | CGTGACCC others(458): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00733.hp2 HG02602.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0193 others(18): Show |
21 | 326 | 0.0644 | 465 | c.552 others(484): Show |
PSMF1 | ENSG00000125818.18 | transcript | ENST00000335877.11 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PSMF1_chr20_1113602_1177246 | 1150048 | T | TGTGACCC others(458): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00609.hp2 HG00639.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0200 a0001c0001t0004g0016 a0001c0001t0004g0219 others(10): Show |
13 | 326 | 0.0399 | 465 | c.552 others(484): Show |
PSMF1 | ENSG00000125818.18 | transcript | ENST00000335877.11 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PTK6_chr20_63523001_63542376 | 63535975 | C | CCCCTCCT others(458): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0227 | 1 | 344 | 0.0029 | 465 | c.231 others(480): Show |
PTK6 | ENSG00000101213.7 | transcript | ENST00000542869.3 | protein_coding | 1/7 | chr20 | TogoVar | |||||||
PWWP2B_chr10_132392200_132422859 | 132392560 | A | AATGGTGA others(458): Show |
upstream_gene_variant | MODIFIER | NA18962.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0009 | 1 | 374 | 0.0027 | 465 | c.-46 others(476): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 4639 | chr10 | TogoVar |