| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C12orf40_chr12_39621183_39726914 | 39700537 | CCAATCTA others(725): Show |
C | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0101a0002c0002t0001g0102 | 2 | 360 | 0.0056 | -732 | c.141 others(19): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 11/12 | chr12 | TogoVar | ||||||
| HEXB_chr5_74680233_74726288 | 74699369 | AGTTCAAG others(725): Show |
A | intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 396 | 0.0025 | -732 | c.669 others(17): Show |
HEXB | ENSG00000049860.14 | transcript | ENST00000261416.12 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| NHS_chrX_17370200_17740994 | 17619311 | ATCTCAGC others(725): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02723.hp2 HG06807.hp2 |
a0001a0008 | a0001c0001a0008c0010 | a0001c0001t0002a0008c0010t0003 | a0001c0001t0002g0099a0001c0001t0002g0143a0008c0010t0003g0158 | 3 | 164 | 0.0183 | -732 | c.566 others(19): Show |
NHS | ENSG00000188158.17 | transcript | ENST00000676302.1 | protein_coding | 1/8 | chrX | TogoVar | ||||||
| PRDM16_chr1_3064203_3443621 | 3299544 | GTGATGTT others(725): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG01361.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0088a0001c0002t0016others(2): Show | a0001c0001t0001g0175a0001c0001t0088g0090a0001c0002t0016g0195others(2): Show | 5 | 210 | 0.0238 | -732 | c.438 others(19): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SDHA_chr5_213320_262082 | 260384 | AGCTCCGC others(725): Show |
A | downstream_gene_variant | MODIFIER | HG01433.hp1 | a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0064 | 1 | 266 | 0.0038 | -732 | c.*39 others(11): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 3303 | chr5 | TogoVar | ||||||
| TAF11L10_chr5_17592232_17602828 | 17597848 | TCCGTGAC others(725): Show |
T | upstream_gene_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 1 | 352 | 0.0028 | -732 | c.-75 others(8): Show |
TAF11L10 | ENSG00000284356.1 | transcript | ENST00000638842.1 | protein_coding | 21 | chr5 | TogoVar | ||||||
| FLT4_chr5_180596506_180654600 | 180635077 | GGAGGGTG others(724): Show |
G | intron_variant | MODIFIER | HG02135.hp1 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0285 | 1 | 388 | 0.0026 | -731 | c.59- others(15): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 1/29 | chr5 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 949507 | GACAATGA others(724): Show |
G | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0102 | 1 | 294 | 0.0034 | -731 | c.503 others(17): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 949509 | CAATGACA others(724): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(105): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(41): Show | a0001c0001t0001g0247a0001c0001t0001g0249a0001c0001t0001g0251others(105): Show | 108 | 294 | 0.3674 | -731 | c.503 others(17): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
| LUC7L_chr16_183990_234449 | 186034 | AGGAATAC others(724): Show |
A | downstream_gene_variant | MODIFIER | HG02976.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223a0001c0001t0001g0240 | 2 | 350 | 0.0057 | -731 | c.*24 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2955 | chr16 | TogoVar | ||||||
| TAF11L10_chr5_17592232_17602828 | 17597711 | TGGGTGCT others(724): Show |
T | start_lost others(1): Show |
HIGH | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(147): Show |
a0002a0011 | a0002c0002a0002c0006a0011c0007 | a0002c0002t0000a0002c0006t0000a0011c0007t0000 | a0002c0002t0000g0000a0002c0006t0000g0000a0011c0007t0000g0000 | 150 | 352 | 0.4261 | -731 | c.-61 others(8): Show |
p.Met others(10): Show |
TAF11L10 | ENSG00000284356.1 | transcript | ENST00000638842.1 | protein_coding | 1/1 | 117/597 | 1/597 | 1/198 | chr5 | TogoVar | ||
| TAF11L10_chr5_17592232_17602828 | 17598103 | TGGGTATT others(724): Show |
T | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG02717.hp2 others(8): Show |
a0001a0007 | a0001c0001a0007c0014 | a0001c0001t0000a0007c0014t0000 | a0001c0001t0000g0000a0007c0014t0000g0000 | 11 | 352 | 0.0313 | -731 | c.-10 others(10): Show |
TAF11L10 | ENSG00000284356.1 | transcript | ENST00000638842.1 | protein_coding | 276 | chr5 | TogoVar | ||||||
| TAF11L9_chr5_17588798_17599394 | 17597711 | TGGGTGCT others(724): Show |
T | upstream_gene_variant | MODIFIER | HG00438.hp1 HG01978.hp2 HG01981.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 33 | 112 | 0.2946 | -731 | c.-40 others(11): Show |
TAF11L9 | ENSG00000283988.1 | transcript | ENST00000639969.1 | protein_coding | 3318 | chr5 | TogoVar | ||||||
| TAF11L9_chr5_17588798_17599394 | 17598103 | TGGGTATT others(724): Show |
T | upstream_gene_variant | MODIFIER | HG00438.hp2 HG03098.hp2 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 3 | 112 | 0.0268 | -731 | c.-44 others(11): Show |
TAF11L9 | ENSG00000283988.1 | transcript | ENST00000639969.1 | protein_coding | 3710 | chr5 | TogoVar | ||||||
| TEX29_chr13_111315642_111349248 | 111340358 | GTGTTTAG others(724): Show |
G | intron_variant | MODIFIER | HG02895.hp1 HG02896.hp1 HG02896.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0013a0001c0002t0003g0051a0001c0002t0003g0285 | 7 | 416 | 0.0168 | -731 | c.239 others(16): Show |
TEX29 | ENSG00000153495.11 | transcript | ENST00000283547.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| TEX29_chr13_111315642_111349248 | 111340691 | CATCATAA others(724): Show |
C | intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0151 | 1 | 416 | 0.0024 | -731 | c.239 others(16): Show |
TEX29 | ENSG00000153495.11 | transcript | ENST00000283547.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| TMEM132D_chr12_129066726_129909025 | 129088815 | GGGTGTCC others(724): Show |
G | intron_variant | MODIFIER | HG02040.hp2 HG02083.hp1 HG03239.hp1 others(3): Show |
a0001a0009 | a0001c0001a0001c0002a0009c0008 | a0001c0001t0005a0001c0001t0016a0001c0002t0011others(1): Show | a0001c0001t0005g0037a0001c0001t0005g0042a0001c0001t0005g0071others(3): Show | 6 | 94 | 0.0638 | -731 | c.144 others(19): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 5/8 | chr12 | TogoVar | ||||||
| TPO_chr2_1408463_1548673 | 1444977 | CCTTCTTG others(724): Show |
C | intron_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0053 | 1 | 130 | 0.0077 | -731 | c.482 others(17): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CACNA1H_chr16_1148106_1226768 | 1191141 | CTGACTCA others(723): Show |
C | intron_variant | MODIFIER | HG02257.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0031 | a0001c0001t0001a0001c0031t0001 | a0001c0001t0001g0219a0001c0031t0001g0218 | 2 | 338 | 0.0059 | -730 | c.300 others(17): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CCDC200_chr17_43216420_43233623 | 43232893 | CCCGTTAC others(723): Show |
C | upstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0108 | 1 | 334 | 0.0030 | -730 | c.-50 others(11): Show |
CCDC200 | ENSG00000236383.9 | transcript | ENST00000636331.2 | protein_coding | 4271 | chr17 | TogoVar | ||||||
| DISC1_chr1_231621790_232046272 | 231832888 | CATGCTGT others(723): Show |
C | intron_variant | MODIFIER | HG02647.hp1 | a0003 | a0003c0007 | a0003c0007t0006 | a0003c0007t0006g0021 | 1 | 40 | 0.0250 | -730 | c.198 others(21): Show |
DISC1 | ENSG00000162946.24 | transcript | ENST00000439617.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RNF180_chr5_64160843_64377869 | 64324627 | TCCCATAA others(723): Show |
T | frameshift_variant others(3): Show |
HIGH | HG02647.hp2 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0093 | 1 | 250 | 0.0040 | -730 | c.122 others(13): Show |
p.Thr others(5): Show |
RNF180 | ENSG00000164197.12 | transcript | ENST00000389100.9 | protein_coding | 6/8 | 1228/1779 | 410/592 | chr5 | TogoVar | |||
| TUBGCP2_chr10_133273635_133313872 | 133291739 | CCGTGTCC others(723): Show |
C | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 284 | 0.0035 | -730 | c.121 others(16): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | ||||||
| CAMK1D_chr10_12344547_12840545 | 12775391 | AGGTGAGA others(722): Show |
A | intron_variant | MODIFIER | HG03486.hp1 NA18612.hp1 NA18953.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0047 | a0001c0001t0001g0056a0001c0001t0002g0139a0001c0001t0047g0066 | 3 | 214 | 0.0140 | -729 | c.565 others(17): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| DMRT1_chr9_836697_974090 | 871436 | CATTCTCC others(722): Show |
C | intron_variant | MODIFIER | NA19009.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0081 | 1 | 306 | 0.0033 | -729 | c.539 others(19): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| DOCK8_chr9_209865_470255 | 320708 | CACTCACG others(722): Show |
C | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0050 | a0001c0050t0004 | a0001c0050t0004g0057 | 1 | 256 | 0.0039 | -729 | c.827 others(17): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| EHHADH_chr3_185185624_185259049 | 185230945 | ATAAACAA others(722): Show |
A | intron_variant | MODIFIER | HG02896.hp1 | a0013 | a0013c0015 | a0013c0015t0009 | a0013c0015t0009g0013 | 1 | 348 | 0.0029 | -729 | c.352 others(17): Show |
EHHADH | ENSG00000113790.11 | transcript | ENST00000231887.8 | protein_coding | 3/6 | chr3 | TogoVar | ||||||
| LPP_chr3_188149157_188895671 | 188784723 | TTCCATCA others(722): Show |
T | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0025 | 1 | 76 | 0.0132 | -729 | c.141 others(21): Show |
LPP | ENSG00000145012.15 | transcript | ENST00000617246.5 | protein_coding | 9/11 | chr3 | TogoVar | ||||||
| MYRIP_chr3_39804609_40265321 | 39956677 | TCAGAGCA others(722): Show |
T | intron_variant | MODIFIER | HG03041.hp1 HG03540.hp2 NA19030.hp2 |
a0002a0006 | a0002c0008a0006c0016 | a0002c0008t0001a0006c0016t0008 | a0002c0008t0001g0027a0002c0008t0001g0061a0006c0016t0008g0139 | 3 | 170 | 0.0177 | -729 | c.110 others(19): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 2/16 | chr3 | TogoVar | ||||||
| SNED1_chr2_240993618_241100568 | 241078122 | CGCCTGTA others(722): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG03453.hp2 HG03471.hp1 others(2): Show |
a0009 | a0009c0030a0009c0031a0009c0067 | a0009c0030t0027a0009c0031t0028a0009c0031t0036others(1): Show | a0009c0030t0027g0127a0009c0030t0027g0208a0009c0031t0028g0224others(2): Show | 5 | 344 | 0.0145 | -729 | c.391 others(19): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CTDP1_chr18_79674803_79759503 | 79745570 | CGCGTCCC others(721): Show |
C | intron_variant | MODIFIER | HG02132.hp1 HG02970.hp1 NA18940.hp2 others(12): Show |
a0001a0008 | a0001c0003a0001c0016a0001c0020others(1): Show | a0001c0003t0001a0001c0016t0001a0001c0020t0001others(1): Show | a0001c0003t0001g0023a0001c0003t0001g0024a0001c0003t0001g0025others(12): Show | 15 | 378 | 0.0397 | -728 | c.274 others(19): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| CXCL16_chr17_4728533_4744928 | 4737312 | TCACACCT others(721): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG01070.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 9 | 438 | 0.0206 | -728 | c.301 others(16): Show |
CXCL16 | ENSG00000161921.17 | transcript | ENST00000293778.12 | protein_coding | 3/5 | chr17 | TogoVar | ||||||
| FLRT2_chr14_85525144_85659428 | 85598657 | AGCTGAAG others(721): Show |
A | intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0039 | 1 | 338 | 0.0030 | -728 | c.-37 others(21): Show |
FLRT2 | ENSG00000185070.12 | transcript | ENST00000330753.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| MAD1L1_chr7_1810795_2237945 | 1991285 | ACCGCTGG others(721): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG04228.hp1 NA18944.hp1 others(2): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0003c0014others(1): Show | a0001c0001t0001a0001c0003t0001a0003c0014t0001others(1): Show | a0001c0001t0001g0162a0001c0001t0001g0181a0001c0003t0001g0042others(2): Show | 5 | 264 | 0.0189 | -728 | c.141 others(21): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 14/18 | chr7 | TogoVar | ||||||
| MED11_chr17_4726428_4738607 | 4737312 | TCACACCT others(721): Show |
T | downstream_gene_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG01070.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006 | 9 | 432 | 0.0208 | -728 | c.*41 others(11): Show |
MED11 | ENSG00000161920.11 | transcript | ENST00000293777.6 | protein_coding | 3706 | chr17 | TogoVar | ||||||
| OTUD7A_chr15_31470398_31875673 | 31510838 | TATGTATA others(721): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02886.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0071a0001c0004t0018 | a0001c0001t0071g0214a0001c0004t0018g0086 | 2 | 244 | 0.0082 | -728 | c.894 others(17): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | ||||||
| SAMD11_chr1_918923_949574 | 934008 | AGGGGAGG others(721): Show |
A | intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 434 | 0.0023 | -728 | c.843 others(16): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SAMD11_chr1_918923_949574 | 934148 | AGGGGAGG others(721): Show |
A | intron_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098a0001c0001t0001g0099 | 2 | 434 | 0.0046 | -728 | c.843 others(16): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SMOC2_chr6_168436184_168672992 | 168560546 | GCCCTGAG others(721): Show |
G | intron_variant | MODIFIER | HG01081.hp2 NA18990.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0004 | a0001c0001t0001g0073a0001c0003t0004g0102 | 2 | 180 | 0.0111 | -728 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SMOC2_chr6_168436184_168672992 | 168560572 | ATTCTTGG others(721): Show |
A | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 180 | 0.0056 | -728 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SMOC2_chr6_168436184_168672992 | 168560629 | TGGAGGAG others(721): Show |
T | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 180 | 0.0056 | -728 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SMOC2_chr6_168436184_168672992 | 168560884 | ATTCTTGG others(721): Show |
A | intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0116 | 1 | 180 | 0.0056 | -728 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SMOC2_chr6_168436184_168672992 | 168561300 | GTTCTTGG others(721): Show |
G | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0063 | 1 | 180 | 0.0056 | -728 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1106586 | CAGTGGAC others(721): Show |
C | intron_variant | MODIFIER | HG01169.hp2 HG02717.hp1 HG02886.hp1 others(2): Show |
a0001a0005 | a0001c0002a0005c0006 | a0001c0002t0001a0005c0006t0001 | a0001c0002t0001g0084a0005c0006t0001g0081a0005c0006t0001g0083others(2): Show | 5 | 190 | 0.0263 | -728 | c.325 others(17): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1107773 | CCTTGGTA others(721): Show |
C | intron_variant | MODIFIER | HG01256.hp2 HG02132.hp1 HG02683.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0005others(2): Show | a0001c0001t0001a0001c0002t0001a0002c0005t0001others(2): Show | a0001c0001t0001g0038a0001c0002t0001g0031a0001c0002t0001g0087others(5): Show | 8 | 190 | 0.0421 | -728 | c.325 others(18): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1107877 | GCTTGGTA others(721): Show |
G | intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0092 | 1 | 190 | 0.0053 | -728 | c.325 others(18): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1108085 | CCTTGGTA others(721): Show |
C | intron_variant | MODIFIER | HG00323.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0098 | 1 | 190 | 0.0053 | -728 | c.325 others(18): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TPPP_chr5_654862_698352 | 691711 | CAATAGCC others(721): Show |
C | intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0097 | a0001c0001t0097g0368 | 1 | 409 | 0.0024 | -728 | c.-5+ others(14): Show |
TPPP | ENSG00000171368.12 | transcript | ENST00000360578.7 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
| ZMYND15_chr17_4734833_4751113 | 4737312 | TCACACCT others(721): Show |
T | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG01070.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004a0001c0001t0002g0013a0001c0001t0002g0015 | 8 | 458 | 0.0175 | -728 | c.-27 others(11): Show |
ZMYND15 | ENSG00000141497.14 | transcript | ENST00000433935.6 | protein_coding | 2520 | chr17 | TogoVar | ||||||
| LUC7L_chr16_183990_234449 | 186441 | GGGGAACA others(720): Show |
G | downstream_gene_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 350 | 0.0029 | -727 | c.*20 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2548 | chr16 | TogoVar |