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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DISP3_chr1_11474155_11542551 | 11522738 | G | GACCCAGC others(1082): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0004 | a0004c0010 | a0004c0010t0007 | a0004c0010t0007g0335 | 1 | 106 | 0.0094 | 1089 | c.236 others(1108): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | |||||||
ETHE1_chr19_43501719_43532201 | 43517389 | C | CAGCACTT others(1082): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0062 | 1 | 176 | 0.0057 | 1089 | c.376 others(1106): Show |
ETHE1 | ENSG00000105755.8 | transcript | ENST00000292147.7 | protein_coding | 3/6 | chr19 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(1082): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 132 | 0.0076 | 1089 | c.94- others(1102): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HOMEZ_chr14_23267422_23291132 | 23280710 | T | TTTTATTT others(1082): Show |
intron_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0197 | 1 | 207 | 0.0048 | 1089 | c.41- others(1104): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399423 | A | ACCACCAC others(1082): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0164 | 1 | 287 | 0.0035 | 1089 | c.-25 others(1106): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | chr2 | TogoVar | |||||||
HS3ST3B1_chr17_14296081_14354404 | 14313008 | A | AATTCTCC others(1082): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0245 | 1 | 430 | 0.0023 | 1089 | c.554 others(1108): Show |
HS3ST3B1 | ENSG00000125430.9 | transcript | ENST00000360954.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
IL18R1_chr2_102350796_102403776 | 102352800 | T | TAATATAA others(1082): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 HG02559.hp1 HG02896.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0044 a0001c0001t0011g0195 a0001c0001t0011g0196 |
4 | 252 | 0.0159 | 1089 | c.-36 others(1100): Show |
IL18R1 | ENSG00000115604.12 | transcript | ENST00000233957.7 | protein_coding | 2995 | chr2 | TogoVar | |||||||
IL1RL1_chr2_102306563_102357037 | 102352800 | T | TAATATAA others(1082): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 HG02559.hp2 HG02896.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0021 a0002c0002t0001g0061 a0002c0002t0001g0062 |
4 | 238 | 0.0168 | 1089 | c.*87 others(1098): Show |
IL1RL1 | ENSG00000115602.17 | transcript | ENST00000233954.6 | protein_coding | 764 | chr2 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055110 | A | AGGGATAG others(1082): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01361.hp2 HG02004.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0100 a0001c0001t0001g0117 a0001c0001t0002g0124 others(3): Show |
6 | 152 | 0.0395 | 1089 | c.193 others(1108): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055110 | A | AGGGATAG others(1082): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02155.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0020 a0001c0002t0001g0176 |
2 | 148 | 0.0135 | 1089 | c.193 others(1108): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055112 | A | AGGGATAG others(1082): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01175.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0035 others(23): Show |
26 | 139 | 0.1871 | 1089 | c.193 others(1108): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055112 | A | AGGGATAG others(1082): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01891.hp1 HG01891.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(2): Show | a0001c0001t0001g0085 a0001c0001t0001g0187 a0001c0001t0004g0052 others(4): Show |
7 | 120 | 0.0583 | 1089 | c.193 others(1108): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055112 | A | AGGGATAG others(1082): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 114 | 0.0088 | 1089 | c.193 others(1108): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
MYDGF_chr19_4652545_4675342 | 4663531 | C | CACAGCCT others(1082): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0064 | 1 | 392 | 0.0026 | 1089 | c.287 others(1106): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 3/5 | chr19 | TogoVar | |||||||
NDUFA11_chr19_5889675_5908790 | 5891867 | T | TGGGGGGG others(1082): Show |
downstream_gene_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 362 | 0.0028 | 1089 | c.*28 others(1100): Show |
NDUFA11 | ENSG00000174886.14 | transcript | ENST00000308961.5 | protein_coding | 2807 | chr19 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(1082): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0036 | a0036c0078 | a0036c0078t0001 | a0036c0078t0001g0256 | 1 | 24 | 0.0417 | 1089 | c.371 others(1106): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
RABL6_chr9_136802948_136846187 | 136803280 | G | GCCGGGGG others(1082): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0005 | 1 | 247 | 0.0040 | 1089 | c.-49 others(1100): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4667 | chr9 | TogoVar | |||||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(1082): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 195 | 0.0051 | 1089 | c.347 others(1104): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130392494 | A | ATGTGGAT others(1082): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0180 | 1 | 162 | 0.0062 | 1089 | c.*48 others(1100): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 3638 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130392494 | A | ATGTGGAT others(1082): Show |
downstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0032 | a0001c0032t0001 | a0001c0032t0001g0026 | 1 | 162 | 0.0062 | 1089 | c.*48 others(1100): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 3638 | chr12 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130392494 | A | ATGTGGAT others(1082): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG02280.hp1 HG02559.hp2 others(7): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(6): Show | a0001c0001t0001g0179 a0001c0003t0001g0058 a0001c0004t0001g0121 others(7): Show |
10 | 171 | 0.0585 | 1089 | c.*48 others(1100): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 3638 | chr12 | TogoVar | |||||||
SAMD10_chr20_63969116_63984642 | 63970942 | C | CCTTCCTT others(1082): Show |
downstream_gene_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 77 | 0.0130 | 1089 | c.*45 others(1100): Show |
SAMD10 | ENSG00000130590.14 | transcript | ENST00000369886.8 | protein_coding | 3173 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13934345 | T | TATATATA others(1082): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0321 | 1 | 321 | 0.0031 | 1089 | c.115 others(1106): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31432024 | G | GGTGGTTA others(1082): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0355 | 1 | 374 | 0.0027 | 1089 | c.101 others(1106): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432042 | G | GGTGGATA others(1082): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0018 | 1 | 374 | 0.0027 | 1089 | c.101 others(1106): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432156 | C | CAGGGTGG others(1082): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0123 | 1 | 160 | 0.0063 | 1089 | c.101 others(1106): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC38A10_chr17_81239811_81300307 | 81249402 | T | TGAAGGAG others(1082): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0049 | 1 | 109 | 0.0092 | 1089 | c.206 others(1108): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1273174 | G | GCCATCCA others(1082): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0362 | 1 | 370 | 0.0027 | 1089 | c.228 others(1106): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157312409 | C | CTGGCCTC others(1082): Show |
intron_variant | MODIFIER | HG02132.hp1 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 a0001c0001t0001g0180 |
2 | 341 | 0.0059 | 1089 | c.327 others(1106): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM68_chr8_55733758_55778378 | 55744308 | T | TAAAATAT others(1082): Show |
intron_variant | MODIFIER | HG03516.hp1 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0184 a0001c0001t0007g0166 |
2 | 104 | 0.0192 | 1089 | c.749 others(1104): Show |
TMEM68 | ENSG00000167904.16 | transcript | ENST00000434581.7 | protein_coding | 6/7 | chr8 | TogoVar | |||||||
TRIM28_chr19_58539064_58555715 | 58539222 | A | ACCTGCTT others(1082): Show |
upstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0004 | 1 | 155 | 0.0065 | 1089 | c.-55 others(1100): Show |
TRIM28 | ENSG00000130726.12 | transcript | ENST00000253024.10 | protein_coding | 4841 | chr19 | TogoVar | |||||||
ULK1_chr12_131889622_131928150 | 131917328 | T | TGGGGGTT others(1082): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0022 | 1 | 300 | 0.0033 | 1089 | c.218 others(1104): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(1082): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 100 | 0.0100 | 1089 | c.-10 others(1106): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
ZNF512B_chr20_63951704_63974930 | 63970942 | C | CCTTCCTT others(1082): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0021 | 1 | 78 | 0.0128 | 1089 | c.-11 others(1100): Show |
ZNF512B | ENSG00000196700.9 | transcript | ENST00000369888.6 | protein_coding | 1013 | chr20 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(1083): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0025 | a0025c0055 | a0025c0055t0004 | a0025c0055t0004g0261 | 1 | 7 | 0.1429 | 1090 | c.775 others(1105): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(1083): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02257.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005 a0001c0002t0001g0021 |
2 | 11 | 0.1818 | 1090 | c.327 others(1107): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
CAPN11_chr6_44153820_44189401 | 44181720 | C | CACATACA others(1083): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 157 | 0.0064 | 1090 | c.193 others(1107): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CEP131_chr17_81184596_81227965 | 81207935 | C | CCATACAC others(1083): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0256 | 1 | 382 | 0.0026 | 1090 | c.273 others(1105): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1083): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0124 | 1 | 8 | 0.1250 | 1090 | c.328 others(1107): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45500919 | T | TGTGTTGG others(1083): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0020 | a0002c0020t0003 | a0002c0020t0003g0144 | 1 | 284 | 0.0035 | 1090 | c.268 others(1109): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45500919 | T | TGTGTTGG others(1083): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 284 | 0.0035 | 1090 | c.268 others(1109): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647275 | A | ACAATCCT others(1083): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 217 | 0.0046 | 1090 | c.*51 others(1101): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1931 | chr15 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647275 | A | ACAATCCT others(1083): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG01099.hp2 HG02451.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0009a0003c0003t0001 | a0001c0001t0001g0044 a0001c0001t0001g0057 a0001c0001t0009g0141 others(2): Show |
5 | 221 | 0.0226 | 1090 | c.*51 others(1101): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1931 | chr15 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1083): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0057 | a0057c0115 | a0057c0115t0003 | a0057c0115t0003g0250 | 1 | 98 | 0.0102 | 1090 | c.118 others(1109): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DST_chr6_56452996_56959830 | 56864497 | T | TGGAAAGT others(1083): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0034 | a0034c0051 | a0034c0051t0001 | a0034c0051t0001g0011 | 1 | 77 | 0.0130 | 1090 | c.418 others(1109): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 3/103 | chr6 | TogoVar | |||||||
GPR35_chr2_240620480_240638159 | 240626075 | T | TGGGGTGA others(1083): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03225.hp1 HG03225.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0022 a0002c0002t0008g0140 |
5 | 19 | 0.2632 | 1090 | c.-5+ others(1103): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626075 | T | TGGGGTGG others(1083): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0142 | 1 | 15 | 0.0667 | 1090 | c.-5+ others(1103): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 129385145 | G | GGAAAAAG others(1083): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0027 | a0027c0053 | a0027c0053t0003 | a0027c0053t0003g0080 | 1 | 8 | 0.1250 | 1090 | c.507 others(1109): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 35/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256767 | A | ATAGTCAC others(1083): Show |
upstream_gene_variant | MODIFIER | HG02602.hp1 HG03704.hp2 NA19009.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 3 | 339 | 0.0088 | 1090 | c.-29 others(1101): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2919 | chr1 | TogoVar | |||||||
LORICRIN_chr1_153254687_153267124 | 153256767 | A | ATAGTCAC others(1083): Show |
upstream_gene_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 337 | 0.0030 | 1090 | c.-29 others(1101): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2919 | chr1 | TogoVar |