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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DEFA4_chr8_6930820_6943306 | 6933348 | AAACTCAC others(7162): Show |
A | transcript_ablation | HIGH | HG00323.hp2 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 486 | 0.0021 | -7169 | c.-23 others(11): Show |
p.0? | DEFA4 | ENSG00000164821.5 | transcript | ENST00000297435.3 | protein_coding | 2/3 | chr8 | TogoVar | ||||||
NAA15_chr4_139296505_139396384 | 139310190 | CACGCCTG others(7162): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG02109.hp1 HG03540.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0217 a0001c0001t0009g0215 a0001c0001t0009g0216 others(2): Show |
5 | 334 | 0.0150 | -7169 | c.54+ others(16): Show |
NAA15 | ENSG00000164134.14 | transcript | ENST00000296543.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DAZ2_chrY_23214533_23296356 | 23249555 | CTTTTTTT others(7150): Show |
C | exon_loss_variant | HIGH | HG02258.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0037 | 1 | 54 | 0.0185 | -7157 | c.114 others(17): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 16/28 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
DAZ2_chrY_23214533_23296356 | 23248905 | TCCTGAAT others(7149): Show |
T | exon_loss_variant | HIGH | HG02486.hp1 HG02717.hp1 HG03471.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0039 a0002c0002t0001g0043 a0002c0002t0001g0044 |
3 | 54 | 0.0556 | -7156 | c.114 others(15): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 16/28 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
DAZ2_chrY_23214533_23296356 | 23249555 | CTTTTTTT others(7149): Show |
C | exon_loss_variant | HIGH | HG02055.hp1 HG02965.hp1 HG03130.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0038 |
5 | 54 | 0.0926 | -7156 | c.114 others(17): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 16/28 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
DAZ2_chrY_23214533_23296356 | 23244142 | CTGGTCAT others(7148): Show |
C | exon_loss_variant | HIGH | HG01074.hp1 NA18974.hp1 NA19091.hp1 |
a0002a0007a0009 | a0002c0002a0007c0015a0009c0010 | a0002c0002t0001a0007c0015t0001a0009c0010t0001 | a0002c0002t0001g0041 a0007c0015t0001g0051 a0009c0010t0001g0029 |
3 | 54 | 0.0556 | -7155 | c.114 others(17): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 16/28 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
DAZ2_chrY_23214533_23296356 | 23244201 | TAGAATGA others(7147): Show |
T | exon_loss_variant | HIGH | HG02145.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0035 | 1 | 54 | 0.0185 | -7154 | c.100 others(17): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 14/28 | chrY | TogoVar | |||||||
DAZ2_chrY_23214533_23296356 | 23249556 | TTTTTTTT others(7147): Show |
T | exon_loss_variant | HIGH | HG02572.hp1 HG03098.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0047 a0002c0002t0001g0048 |
2 | 54 | 0.0370 | -7154 | c.114 others(17): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 16/28 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
DAZ4_chrY_24828919_24912040 | 24882359 | CTTTTTTA others(7147): Show |
C | exon_loss_variant | HIGH | NA19000.hp1 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0032 | 1 | 41 | 0.0244 | -7154 | c.164 others(17): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 21/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
DAZ2_chrY_23214533_23296356 | 23271699 | TTAAATAA others(7146): Show |
T | exon_loss_variant | HIGH | NA18974.hp1 | a0007 | a0007c0015 | a0007c0015t0001 | a0007c0015t0001g0051 | 1 | 54 | 0.0185 | -7153 | c.157 others(17): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
DAZ2_chrY_23214533_23296356 | 23269959 | TATTGAAA others(7145): Show |
T | exon_loss_variant | HIGH | HG01928.hp1 | a0011 | a0011c0013 | a0011c0013t0001 | a0011c0013t0001g0020 | 1 | 54 | 0.0185 | -7152 | c.157 others(17): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
DAZ3_chrY_24758069_24818393 | 24785027 | CTATGTCA others(7131): Show |
C | exon_loss_variant | HIGH | HG02055.hp1 HG02258.hp1 HG02717.hp1 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0007 others(5): Show |
10 | 45 | 0.2222 | -7138 | c.859 others(16): Show |
DAZ3 | ENSG00000187191.16 | transcript | ENST00000382365.7 | protein_coding | 14/19 | chrY | TogoVar | |||||||
ZFYVE9_chr1_52137089_52351634 | 52243612 | GGGAAGAG others(7129): Show |
G | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 210 | 0.0048 | -7136 | c.217 others(20): Show |
ZFYVE9 | ENSG00000157077.16 | transcript | ENST00000287727.8 | protein_coding | 4/18 | chr1 | TogoVar | |||||||
DAZ3_chrY_24758069_24818393 | 24782064 | GTTTACCT others(7126): Show |
G | exon_loss_variant | HIGH | NA18943.hp1 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0033 | 1 | 45 | 0.0222 | -7133 | c.931 others(17): Show |
DAZ3 | ENSG00000187191.16 | transcript | ENST00000382365.7 | protein_coding | 15/19 | chrY | TogoVar | |||||||
DAZ4_chrY_24828919_24912040 | 24868531 | CTCTAATT others(7126): Show |
C | exon_loss_variant | HIGH | HG00140.hp1 HG00609.hp1 HG01069.hp1 others(19): Show |
a0002a0003a0005others(5): Show | a0002c0002a0003c0004a0005c0005others(5): Show | a0002c0002t0001a0003c0004t0001a0005c0005t0001others(5): Show | a0002c0002t0001g0009 a0002c0002t0001g0012 a0002c0002t0001g0025 others(19): Show |
22 | 41 | 0.5366 | -7133 | c.142 others(18): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 18/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
ANKRD36_chr2_97108153_97269521 | 97171029 | GTCATTAA others(7120): Show |
G | intron_variant | MODIFIER | NA19079.hp2 | a0019 | a0019c0031 | a0019c0031t0007 | a0019c0031t0007g0126 | 1 | 212 | 0.0047 | -7127 | c.163 others(19): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 22/75 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LINGO2_chr9_27932617_29218601 | 28840004 | GCAGGCAC others(7108): Show |
G | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0003 a0001c0001t0006g0004 |
2 | 62 | 0.0323 | -7115 | c.-39 others(23): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
XRCC4_chr5_83072547_83358760 | 83126118 | ATTTAAAA others(7100): Show |
A | intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0162 | 1 | 262 | 0.0038 | -7107 | c.315 others(19): Show |
XRCC4 | ENSG00000152422.16 | transcript | ENST00000396027.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MBD3L3_chr19_7051207_7063676 | 7054595 | ATAAAATA others(7093): Show |
A | transcript_ablation | HIGH | HG00140.hp1 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 288 | 0.0035 | -7100 | c.-30 others(11): Show |
p.0? | MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 1/2 | chr19 | TogoVar | ||||||
THEG_chr19_356747_381026 | 363143 | AACCCTGT others(7082): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG02148.hp2 | a0014 | a0014c0021 | a0014c0021t0003 | a0014c0021t0003g0128 | 1 | 370 | 0.0027 | -7089 | c.753 others(15): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 7/8 | chr19 | TogoVar | |||||||
DHRS4_chr14_23948770_23974279 | 23967207 | GCAGCTCT others(7065): Show |
G | exon_loss_variant | HIGH | HG00408.hp2 | a0000 | a0000c0021 | a0000c0021t0005 | a0000c0021t0005g0141 | 1 | 267 | 0.0038 | -7072 | c.667 others(11): Show |
DHRS4 | ENSG00000157326.19 | transcript | ENST00000313250.10 | protein_coding | 7/8 | chr14 | TogoVar | |||||||
MBD3L3_chr19_7051207_7063676 | 7054611 | TAACATAT others(7065): Show |
T | transcript_ablation | HIGH | NA18944.hp1 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 288 | 0.0035 | -7072 | c.-30 others(11): Show |
p.0? | MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 1/2 | chr19 | TogoVar | ||||||
MBD3L3_chr19_7051207_7063676 | 7054682 | TATAATTT others(7064): Show |
T | transcript_ablation | HIGH | NA18980.hp1 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 288 | 0.0035 | -7071 | c.-31 others(11): Show |
p.0? | MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 1/2 | chr19 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1400166 | CCCTCCTT others(7057): Show |
C | intron_variant | MODIFIER | HG03492.hp1 | a0002 | a0002c0001 | a0002c0001t0007 | a0002c0001t0007g0038 | 1 | 40 | 0.0250 | -7064 | c.107 others(20): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PMM2_chr16_8792839_8854325 | 8838074 | AGCAAAGG others(7050): Show |
A | intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0034 | 1 | 408 | 0.0025 | -7057 | c.640 others(17): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PPFIBP1_chr12_27519206_27700564 | 27624823 | GTGAGCCC others(7047): Show |
G | intron_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 314 | 0.0032 | -7054 | c.-35 others(17): Show |
PPFIBP1 | ENSG00000110841.14 | transcript | ENST00000228425.11 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SLC39A10_chr2_195652226_195742700 | 195689426 | AAAAAAGA others(7031): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0279 | 1 | 376 | 0.0027 | -7038 | c.121 others(20): Show |
SLC39A10 | ENSG00000196950.14 | transcript | ENST00000359634.10 | protein_coding | 3/9 | chr2 | TogoVar | |||||||
SRRM4_chr12_118976541_119168051 | 119037657 | GGGGACAG others(7018): Show |
G | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0115 | a0001c0001t0115g0122 | 1 | 328 | 0.0031 | -7025 | c.131 others(19): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SMCO2_chr12_27441736_27507185 | 27495209 | GTTTTCTC others(7014): Show |
G | exon_loss_variant | HIGH | HG00099.hp2 HG01069.hp2 HG01071.hp2 others(18): Show |
a0000 | a0000c0006a0000c0010a0000c0017others(1): Show | a0000c0006t0005a0000c0006t0006a0000c0010t0006others(2): Show | a0000c0006t0005g0015 a0000c0006t0005g0166 a0000c0006t0005g0167 others(16): Show |
21 | 360 | 0.0583 | -7021 | c.658 others(12): Show |
SMCO2 | ENSG00000165935.10 | transcript | ENST00000535986.2 | protein_coding | 8/9 | chr12 | TogoVar | |||||||
CSAG2_chrX_152703261_152714273 | 152707268 | GCCAGGAA others(6998): Show |
G | transcript_ablation | HIGH | NA18947.hp2 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 211 | 0.0047 | -7005 | c.-51 others(11): Show |
p.0? | CSAG2 | ENSG00000268902.4 | transcript | ENST00000638741.2 | protein_coding | 1/2 | chrX | TogoVar | ||||||
ZCWPW2_chr3_28343721_28531358 | 28497466 | TGTGGTGC others(6989): Show |
T | intron_variant | MODIFIER | HG01070.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0040 | 1 | 254 | 0.0039 | -6996 | c.657 others(17): Show |
ZCWPW2 | ENSG00000206559.8 | transcript | ENST00000383768.7 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ADK_chr10_74146221_74714290 | 74607797 | GCTTTCTT others(6976): Show |
G | intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071 | 1 | 200 | 0.0050 | -6983 | c.877 others(18): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
RBM6_chr3_49935150_50082249 | 49948710 | CAAAAAAG others(6964): Show |
C | intron_variant | MODIFIER | NA18952.hp2 NA18983.hp2 NA19057.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0187 others(2): Show |
5 | 218 | 0.0229 | -6971 | c.-67 others(17): Show |
RBM6 | ENSG00000004534.15 | transcript | ENST00000266022.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STAG2_chrX_123956706_124107656 | 123967397 | CTGGGATT others(6960): Show |
C | intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 276 | 0.0036 | -6967 | c.-16 others(20): Show |
STAG2 | ENSG00000101972.20 | transcript | ENST00000371145.8 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CCDC50_chr3_191324394_191403659 | 191346896 | AGCATCTT others(6959): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01069.hp2 others(31): Show |
a0001a0003 | a0001c0003a0003c0004a0003c0017 | a0001c0003t0005a0001c0003t0023a0001c0003t0025others(5): Show | a0001c0003t0005g0012 a0001c0003t0005g0013 a0001c0003t0005g0034 others(25): Show |
34 | 406 | 0.0837 | -6966 | c.50- others(16): Show |
CCDC50 | ENSG00000152492.15 | transcript | ENST00000392455.9 | protein_coding | 1/11 | chr3 | TogoVar | |||||||
ADCY9_chr16_3957653_4121442 | 4084205 | GGGTTCAA others(6955): Show |
G | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 |
a0002 | a0002c0004 | a0002c0004t0025 | a0002c0004t0025g0005 a0002c0004t0025g0006 |
2 | 320 | 0.0063 | -6962 | c.169 others(21): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
TRIM48_chr11_55257155_55276114 | 55264123 | AATTACAC others(6934): Show |
A | exon_loss_variant | HIGH | NA18941.hp1 NA18943.hp2 NA18963.hp2 others(6): Show |
a0000 | a0000c0004 | a0000c0004t0005a0000c0004t0006 | a0000c0004t0005g0007 a0000c0004t0006g0007 |
9 | 272 | 0.0331 | -6941 | c.45- others(11): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPATA31D4_chr9_81923428_81939998 | 81933069 | ATAGACGA others(6922): Show |
A | splice_region_variant | LOW | HG02129.hp1 | a0001 | a0001c0030 | a0001c0030t0022 | a0001c0030t0022g0020 | 1 | 360 | 0.0028 | -6929 | c.*15 others(10): Show |
SPATA31D4 | ENSG00000189357.9 | transcript | ENST00000419782.5 | protein_coding | 4/4 | chr9 | TogoVar | |||||||
RLN2_chr9_5294864_5309716 | 5302794 | GTGTTTTG others(6915): Show |
G | exon_loss_variant others(1): Show |
HIGH | HG01168.hp2 | a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0078 | 1 | 452 | 0.0022 | -6922 | c.-51 others(14): Show |
RLN2 | ENSG00000107014.9 | transcript | ENST00000381627.4 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
PMM2_chr16_8792839_8854325 | 8835298 | GAGAGCAC others(6890): Show |
G | intron_variant | MODIFIER | HG01261.hp1 NA20805.hp2 |
a0005 | a0005c0006 | a0005c0006t0018 | a0005c0006t0018g0286 a0005c0006t0018g0287 |
2 | 408 | 0.0049 | -6897 | c.640 others(18): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SBF2_chr11_9773668_10299219 | 10203587 | CTAGGCAT others(6890): Show |
C | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0205 | 1 | 224 | 0.0045 | -6897 | c.56- others(16): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 1/39 | chr11 | TogoVar | |||||||
TMLHE_chrX_155484011_155617952 | 155548530 | ATGAGGCC others(6857): Show |
A | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0094 | 1 | 216 | 0.0046 | -6864 | c.-1- others(16): Show |
TMLHE | ENSG00000185973.12 | transcript | ENST00000334398.8 | protein_coding | 1/7 | chrX | TogoVar | |||||||
ALPK1_chr4_112292369_112447621 | 112304157 | CACTTGGA others(6854): Show |
C | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0047 | 1 | 306 | 0.0033 | -6861 | c.-15 others(19): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RLN2_chr9_5294864_5309716 | 5302856 | AAGATATA others(6853): Show |
A | exon_loss_variant others(1): Show |
HIGH | HG00438.hp1 HG01884.hp1 HG02809.hp1 |
a0003 | a0003c0003 | a0003c0003t0007a0003c0003t0014 | a0003c0003t0007g0081 a0003c0003t0007g0082 a0003c0003t0014g0080 |
3 | 452 | 0.0066 | -6860 | c.-51 others(14): Show |
RLN2 | ENSG00000107014.9 | transcript | ENST00000381627.4 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
SHROOM4_chrX_50581796_50819194 | 50648314 | TACCTTCT others(6845): Show |
T | intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0132 | 1 | 175 | 0.0057 | -6852 | c.270 others(19): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 2/8 | chrX | TogoVar | |||||||
TMEM106B_chr7_12206294_12248367 | 12237689 | GGCTGTGT others(6838): Show |
G | splice_region_variant others(1): Show |
LOW | NA18993.hp2 NA19066.hp2 |
a0002 | a0002c0002 | a0002c0002t0059 | a0002c0002t0059g0001 | 2 | 398 | 0.0050 | -6845 | c.*57 others(12): Show |
TMEM106B | ENSG00000106460.20 | transcript | ENST00000396668.8 | protein_coding | 8/8 | 0 | chr7 | TogoVar | ||||||
PRUNE2_chr9_76606376_76911114 | 76831142 | CATGGTCT others(6835): Show |
C | intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0237 | 1 | 240 | 0.0042 | -6842 | c.508 others(17): Show |
PRUNE2 | ENSG00000106772.19 | transcript | ENST00000376718.8 | protein_coding | 4/18 | chr9 | TogoVar | |||||||
ZNF845_chr19_53328749_53361906 | 53348359 | GCAAGGTG others(6820): Show |
G | stop_lost others(2): Show |
HIGH | HG02922.hp1 | a0000 | a0000c0019 | a0000c0019t0062 | a0000c0019t0062g0199 | 1 | 476 | 0.0021 | -6827 | c.143 others(14): Show |
p.Asp others(18): Show |
ZNF845 | ENSG00000213799.13 | transcript | ENST00000458035.3 | protein_coding | 4/4 | 143/2913 | 48/970 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||
HTR2A_chr13_46826546_46902053 | 46876575 | AATTTTCT others(6812): Show |
A | intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0017 | 1 | 336 | 0.0030 | -6819 | c.613 others(18): Show |
HTR2A | ENSG00000102468.11 | transcript | ENST00000542664.4 | protein_coding | 3/3 | chr13 | TogoVar | |||||||
MGAT4C_chr12_85950667_86261391 | 86032325 | TGAGAAAT others(6805): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01433.hp2 HG01515.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0030a0002c0003t0031a0002c0003t0032others(1): Show | a0002c0003t0030g0005 a0002c0003t0031g0006 a0002c0003t0032g0010 others(1): Show |
4 | 186 | 0.0215 | -6812 | c.-7+ others(17): Show |
MGAT4C | ENSG00000182050.14 | transcript | ENST00000611864.5 | protein_coding | 2/4 | chr12 | TogoVar |