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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OTUD7A_chr15_31470398_31875673 | 31510855 | AACATATA others(200): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG01243.hp1 HG01952.hp1 others(8): Show |
a0001a0002a0003 | a0001c0002a0001c0011a0001c0017others(2): Show | a0001c0002t0001a0001c0002t0033a0001c0002t0096others(4): Show | a0001c0002t0001g0038 a0001c0002t0001g0065 a0001c0002t0001g0162 others(8): Show |
11 | 244 | 0.0451 | -207 | c.894 others(17): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67657474 | ATGTAGTG others(200): Show |
A | intron_variant | MODIFIER | NA18906.hp1 NA18906.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0013 | a0001c0001t0008g0173 a0001c0001t0008g0179 a0001c0001t0013g0120 |
3 | 216 | 0.0139 | -207 | c.463 others(19): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 6/8 | chr17 | TogoVar | |||||||
PLEKHG4B_chr5_87168_194966 | 164460 | GTAATGTT others(200): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG01175.hp2 HG04204.hp1 |
a0003a0020a0037 | a0003c0009a0020c0063a0037c0062 | a0003c0009t0032a0020c0063t0021a0037c0062t0012 | a0003c0009t0032g0014 a0020c0063t0021g0188 a0037c0062t0012g0164 |
3 | 207 | 0.0145 | -207 | c.347 others(18): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PRG4_chr1_186291279_186319567 | 186307781 | CCTGCTCC others(200): Show |
C | conservative_inframe_deletion | MODERATE | HG00621.hp1 | a0018 | a0018c0030 | a0018c0030t0001 | a0018c0030t0001g0012 | 1 | 425 | 0.0024 | -207 | c.211 others(9): Show |
p.Thr others(13): Show |
PRG4 | ENSG00000116690.13 | transcript | ENST00000445192.7 | protein_coding | 7/13 | 2155/5049 | 2110/4215 | 704/1404 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
PRKCA_chr17_66297613_66815743 | 66799361 | GTGATGGT others(200): Show |
G | intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0141 | 1 | 160 | 0.0063 | -207 | c.185 others(19): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PTPN9_chr15_75458251_75584315 | 75504186 | GCCCCATG others(200): Show |
G | intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 324 | 0.0031 | -207 | c.968 others(17): Show |
PTPN9 | ENSG00000169410.11 | transcript | ENST00000618819.5 | protein_coding | 7/12 | chr15 | TogoVar | |||||||
SENP1_chr12_48037897_48111079 | 48056788 | ATATTATT others(200): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01516.hp2 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0264 a0001c0001t0002g0267 a0001c0001t0002g0271 |
3 | 392 | 0.0077 | -207 | c.140 others(19): Show |
SENP1 | ENSG00000079387.15 | transcript | ENST00000549518.6 | protein_coding | 13/17 | chr12 | TogoVar | |||||||
SLC16A9_chr10_59645764_59714850 | 59681582 | GTGTATGT others(200): Show |
G | intron_variant | MODIFIER | HG04204.hp2 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0055 | 1 | 348 | 0.0029 | -207 | c.196 others(17): Show |
SLC16A9 | ENSG00000165449.12 | transcript | ENST00000395348.8 | protein_coding | 2/5 | chr10 | TogoVar | |||||||
SMOC2_chr6_168436184_168672992 | 168594936 | CGAGGGGC others(200): Show |
C | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 176 | 0.0057 | -207 | c.638 others(17): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1106141 | GGGTGCAG others(200): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp2 HG01074.hp2 others(11): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0003a0003c0008others(3): Show | a0001c0001t0001a0002c0003t0001a0003c0008t0001others(4): Show | a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0061 others(11): Show |
14 | 188 | 0.0745 | -207 | c.325 others(17): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SYTL3_chr6_158645054_158769871 | 158705065 | GCAGGGTG others(200): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG00639.hp1 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0013a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0013t0001others(4): Show | a0001c0001t0001g0060 a0001c0001t0001g0072 a0001c0001t0001g0156 others(34): Show |
37 | 287 | 0.1289 | -207 | c.395 others(17): Show |
SYTL3 | ENSG00000164674.17 | transcript | ENST00000611299.5 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TCF3_chr19_1604292_1657615 | 1627877 | AGGGGGTG others(200): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01167.hp2 HG01169.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(1): Show | a0001c0002t0001g0268 a0001c0002t0002g0267 a0001c0003t0001g0223 others(2): Show |
5 | 343 | 0.0146 | -207 | c.299 others(15): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TPR_chr1_186306652_186380253 | 186307781 | CCTGCTCC others(200): Show |
C | downstream_gene_variant | MODIFIER | HG00621.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0032 | 1 | 405 | 0.0025 | -207 | c.*59 others(11): Show |
TPR | ENSG00000047410.14 | transcript | ENST00000367478.9 | protein_coding | 3870 | chr1 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133291353 | CTCCGTGT others(200): Show |
C | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0030 | 1 | 277 | 0.0036 | -207 | c.121 others(18): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
UBE2E1_chr3_23800955_23896640 | 23871255 | CGGGCAGA others(200): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02258.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0008 | a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0157 others(3): Show |
8 | 368 | 0.0217 | -207 | c.204 others(19): Show |
UBE2E1 | ENSG00000170142.12 | transcript | ENST00000306627.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
WDR7_chr18_56646359_57034792 | 57024494 | TGTTATGT others(200): Show |
T | intron_variant | MODIFIER | HG02698.hp1 HG03669.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0006 | a0001c0001t0006g0019 a0001c0002t0006g0046 |
2 | 139 | 0.0144 | -207 | c.427 others(19): Show |
WDR7 | ENSG00000091157.15 | transcript | ENST00000254442.8 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
WDR7_chr18_56646359_57034792 | 57024604 | GCAGGAAT others(200): Show |
G | intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 62 | 0.0161 | -207 | c.427 others(19): Show |
WDR7 | ENSG00000091157.15 | transcript | ENST00000254442.8 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
WDR7_chr18_56646359_57034792 | 57024649 | AATTTCAC others(200): Show |
A | intron_variant | MODIFIER | HG02572.hp1 | a0004 | a0004c0011 | a0004c0011t0003 | a0004c0011t0003g0031 | 1 | 118 | 0.0085 | -207 | c.427 others(19): Show |
WDR7 | ENSG00000091157.15 | transcript | ENST00000254442.8 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
WDR7_chr18_56646359_57034792 | 57024673 | ACAGGAAT others(200): Show |
A | intron_variant | MODIFIER | HG00140.hp2 NA18906.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0014 | a0001c0002t0002g0041 a0001c0003t0014g0137 |
2 | 99 | 0.0202 | -207 | c.427 others(19): Show |
WDR7 | ENSG00000091157.15 | transcript | ENST00000254442.8 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ZNF516_chr18_76352682_76500242 | 76393002 | GGGCAGGT others(200): Show |
G | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 |
a0008 | a0008c0020 | a0008c0020t0049 | a0008c0020t0049g0005 a0008c0020t0049g0007 |
2 | 280 | 0.0071 | -207 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
ZNF516_chr18_76352682_76500242 | 76393453 | AGGTGGTC others(200): Show |
A | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0016 | a0001c0016t0031 | a0001c0016t0031g0132 | 1 | 341 | 0.0029 | -207 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
ZNF516_chr18_76352682_76500242 | 76393476 | GGGTGGTC others(200): Show |
G | intron_variant | MODIFIER | NA18982.hp2 | a0003 | a0003c0007 | a0003c0007t0002 | a0003c0007t0002g0301 | 1 | 308 | 0.0032 | -207 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
ZNF516_chr18_76352682_76500242 | 76394233 | CGGGAAGG others(200): Show |
C | intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034 | 1 | 339 | 0.0029 | -207 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
ZNF516_chr18_76352682_76500242 | 76394523 | AGGTGGTC others(200): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG01928.hp2 HG01993.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0012a0001c0001t0015others(7): Show | a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0162 others(9): Show |
12 | 337 | 0.0356 | -207 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1159366 | AGGAGAAG others(199): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02965.hp1 HG06807.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0001t0031a0001c0002t0012 | a0001c0001t0014g0102 a0001c0001t0031g0241 a0001c0002t0012g0245 |
3 | 325 | 0.0092 | -206 | c.61+ others(17): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1288401 | TCCCGTGT others(199): Show |
T | downstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 262 | 0.0038 | -206 | c.*49 others(11): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3989 | chr1 | TogoVar | |||||||
ANO3_chr11_26327130_26668289 | 26529141 | ATATAATA others(199): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01257.hp1 HG01358.hp1 others(5): Show |
a0001 | a0001c0003a0001c0005a0001c0007 | a0001c0003t0007a0001c0003t0009a0001c0005t0005others(2): Show | a0001c0003t0007g0070 a0001c0003t0009g0010 a0001c0003t0009g0074 others(5): Show |
8 | 186 | 0.0430 | -206 | c.738 others(17): Show |
ANO3 | ENSG00000134343.14 | transcript | ENST00000256737.8 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144625876 | CCTGTCCC others(199): Show |
C | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0131 | 1 | 243 | 0.0041 | -206 | c.-81 others(19): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1/11 | chr8 | TogoVar | |||||||
ARHGEF18_chr19_7343937_7477478 | 7419143 | TACCCCAG others(199): Show |
T | intron_variant | MODIFIER | HG02818.hp2 | a0006 | a0006c0009 | a0006c0009t0009 | a0006c0009t0009g0240 | 1 | 296 | 0.0034 | -206 | c.968 others(19): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 10/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARHGEF7_chr13_111110310_111310732 | 111221228 | TATATAGA others(199): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00597.hp1 others(28): Show |
a0001a0003a0006 | a0001c0001a0001c0007a0001c0012others(2): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0016others(7): Show | a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 others(28): Show |
31 | 272 | 0.1140 | -206 | c.670 others(17): Show |
ARHGEF7 | ENSG00000102606.20 | transcript | ENST00000646102.2 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ARL15_chr5_53878942_54315573 | 54091456 | GAGCTGTA others(199): Show |
G | intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 1 | 204 | 0.0049 | -206 | c.462 others(19): Show |
ARL15 | ENSG00000185305.12 | transcript | ENST00000504924.6 | protein_coding | 4/4 | chr5 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130049289 | GGGGGCAG others(199): Show |
G | downstream_gene_variant | MODIFIER | NA19070.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0274 | 1 | 304 | 0.0033 | -206 | c.*52 others(11): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2814 | chr8 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2407255 | CACATCGT others(199): Show |
C | intron_variant | MODIFIER | HG02970.hp2 NA19030.hp1 |
a0001 | a0001c0003a0001c0012 | a0001c0003t0001a0001c0012t0007 | a0001c0003t0001g0009 a0001c0012t0007g0057 |
2 | 95 | 0.0211 | -206 | c.478 others(19): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2407475 | CGACACCA others(199): Show |
C | intron_variant | MODIFIER | HG03239.hp2 NA19003.hp2 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0001a0001c0006t0001 | a0001c0002t0001g0028 a0001c0006t0001g0038 |
2 | 104 | 0.0192 | -206 | c.478 others(19): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNG8_chr19_53957937_53995215 | 53962358 | GAGCGGTG others(199): Show |
G | upstream_gene_variant | MODIFIER | HG02647.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0092 | a0001c0001t0015g0087 a0001c0001t0092g0144 |
2 | 251 | 0.0080 | -206 | c.-78 others(9): Show |
CACNG8 | ENSG00000142408.7 | transcript | ENST00000270458.4 | protein_coding | 578 | chr19 | TogoVar | |||||||
CEP170B_chr14_104860268_104901747 | 104884652 | CGATGCCG others(199): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00642.hp2 HG00738.hp1 others(12): Show |
a0001a0031 | a0001c0001a0001c0003a0001c0007others(3): Show | a0001c0001t0001a0001c0003t0022a0001c0007t0001others(3): Show | a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0042 others(9): Show |
15 | 325 | 0.0462 | -206 | c.177 others(17): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89598547 | AGGCAGAG others(199): Show |
A | downstream_gene_variant | MODIFIER | HG01891.hp1 HG03688.hp1 HG03927.hp1 others(1): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0014 | a0001c0001t0001a0002c0003t0003a0005c0014t0001 | a0001c0001t0001g0060 a0001c0001t0001g0061 a0002c0003t0003g0133 others(1): Show |
4 | 243 | 0.0165 | -206 | c.*19 others(11): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 1302 | chr16 | TogoVar | |||||||
CTNND2_chr5_10966836_11909446 | 11816654 | AGAGAGAG others(199): Show |
A | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 23 | 0.0435 | -206 | c.38- others(17): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 1/21 | chr5 | TogoVar | |||||||
CYP4F12_chr19_15668087_15702174 | 15676667 | TCACTCAC others(199): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(127): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0005others(7): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(9): Show | a0001c0001t0001g0025 a0001c0001t0001g0058 a0001c0001t0001g0144 others(59): Show |
130 | 408 | 0.3186 | -206 | c.199 others(17): Show |
CYP4F12 | ENSG00000186204.15 | transcript | ENST00000550308.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DPH7_chr9_137549444_137583925 | 137565336 | ACTGTCTG others(199): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 306 | 0.0033 | -206 | c.641 others(15): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137565662 | TCTGTCTG others(199): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG01168.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0038 others(6): Show |
9 | 319 | 0.0282 | -206 | c.641 others(15): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137567166 | ACTCTGTC others(199): Show |
A | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 289 | 0.0035 | -206 | c.641 others(17): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137567496 | TGTGAGGA others(199): Show |
T | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0244 | 1 | 337 | 0.0030 | -206 | c.641 others(17): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
GABRG1_chr4_46030769_46129054 | 46117816 | ATCTATAT others(199): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02145.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0009a0001c0002t0004others(5): Show | a0001c0001t0006g0042 a0001c0001t0006g0043 a0001c0001t0006g0044 others(25): Show |
28 | 305 | 0.0918 | -206 | c.104 others(17): Show |
GABRG1 | ENSG00000163285.8 | transcript | ENST00000295452.5 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
GDF2_chr10_47317454_47332588 | 47328984 | GGTGTGTG others(199): Show |
G | downstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0001 | 1 | 422 | 0.0024 | -206 | c.*32 others(11): Show |
GDF2 | ENSG00000263761.3 | transcript | ENST00000581492.3 | protein_coding | 1397 | chr10 | TogoVar | |||||||
GOLGA8A_chr15_34374068_34442808 | 34437508 | CCGCGCCG others(199): Show |
C | 5_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG01975.hp1 others(15): Show |
a0002a0015 | a0002c0002a0015c0020 | a0002c0002t0002a0002c0002t0010a0002c0002t0041others(2): Show | a0002c0002t0002g0157 a0002c0002t0002g0162 a0002c0002t0002g0163 others(15): Show |
18 | 244 | 0.0738 | -206 | c.-15 others(11): Show |
GOLGA8A | ENSG00000175265.19 | transcript | ENST00000359187.5 | protein_coding | 1/25 | 47818 | chr15 | TogoVar | ||||||
GRIK2_chr6_101388708_102075083 | 101761835 | TTTCCTTT others(199): Show |
T | intron_variant | MODIFIER | HG02886.hp1 HG02896.hp1 HG02965.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0003a0001c0003t0004others(1): Show | a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0002t0003g0010 others(4): Show |
7 | 107 | 0.0654 | -206 | c.952 others(19): Show |
GRIK2 | ENSG00000164418.22 | transcript | ENST00000369134.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GRTP1_chr13_113319163_113369130 | 113346214 | CTCTGTGG others(199): Show |
C | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0239 a0001c0001t0001g0258 |
3 | 284 | 0.0106 | -206 | c.466 others(17): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113346254 | GAGAGCAG others(199): Show |
G | intron_variant | MODIFIER | HG02965.hp1 HG03486.hp2 NA21309.hp1 |
a0001a0007 | a0001c0001a0007c0005 | a0001c0001t0002a0001c0001t0003a0007c0005t0001 | a0001c0001t0002g0036 a0001c0001t0003g0037 a0007c0005t0001g0038 |
3 | 270 | 0.0111 | -206 | c.466 others(17): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113346859 | CGGGAGGA others(199): Show |
C | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 275 | 0.0036 | -206 | c.466 others(17): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar |