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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LUC7L_chr16_183990_234449 | 186901 | G | GGAGGAAC others(859): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0305 | 1 | 350 | 0.0029 | 866 | c.*22 others(877): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2088 | chr16 | TogoVar | ||||||
MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGGGA others(859): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0112 | 1 | 280 | 0.0036 | 866 | c.641 others(881): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175670512 | A | AATTTATA others(859): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0005 | a0002c0005t0032 | a0002c0005t0032g0050 | 1 | 64 | 0.0156 | 866 | c.189 others(887): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NOTCH1_chr9_136489433_136551048 | 136528443 | G | GGGGATGG others(859): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0014 | a0001c0014t0002 | a0001c0014t0002g0085 | 1 | 324 | 0.0031 | 866 | c.141 others(883): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(859): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0063 | 1 | 326 | 0.0031 | 866 | c.433 others(883): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
OR3A2_chr17_3271177_3391308 | 3327954 | C | CTTGTAGT others(859): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0302 | 1 | 318 | 0.0031 | 866 | c.-27 others(885): Show |
OR3A2 | ENSG00000221882.5 | transcript | ENST00000573901.3 | protein_coding | 2/4 | chr17 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109354509 | T | TATAGATT others(859): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0088 | 1 | 346 | 0.0029 | 866 | c.176 others(885): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109354509 | T | TATAGATT others(859): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0096 | 1 | 346 | 0.0029 | 866 | c.176 others(885): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3260742 | A | ATGATGGT others(859): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0111 | 1 | 210 | 0.0048 | 866 | c.438 others(885): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 492360 | T | TCCTCCCG others(859): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0171 | 1 | 295 | 0.0034 | 866 | c.126 others(885): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(859): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02165.hp1 HG02165.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0025 | a0001c0001t0003g0067a0001c0001t0003g0163a0001c0001t0009g0019others(1): Show | 4 | 220 | 0.0182 | 866 | c.24+ others(883): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(859): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0028 | 1 | 220 | 0.0046 | 866 | c.24+ others(883): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(859): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0029 | 1 | 220 | 0.0046 | 866 | c.24+ others(883): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
RAPGEF1_chr9_131571775_131745076 | 131586845 | C | CACACACA others(859): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0061 | 1 | 368 | 0.0027 | 866 | c.323 others(883): Show |
RAPGEF1 | ENSG00000107263.19 | transcript | ENST00000683357.1 | protein_coding | 22/26 | chr9 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547360 | A | AAATAAAT others(859): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0252 | 1 | 334 | 0.0030 | 866 | c.45- others(881): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
RIN3_chr14_92508781_92693994 | 92640528 | G | GTTTGCTG others(859): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0014 | a0014c0038 | a0014c0038t0001 | a0014c0038t0001g0249 | 1 | 334 | 0.0030 | 866 | c.441 others(881): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SBNO2_chr19_1102638_1179268 | 1164823 | G | GGAGGAGG others(859): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0186 | 1 | 203 | 0.0049 | 866 | c.-12 others(885): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1221594 | C | CTGCCTCT others(859): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0115 | 1 | 190 | 0.0053 | 866 | c.719 others(885): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPATC1L_chr21_46156160_46189459 | 46170521 | T | TCCTTCTC others(859): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0010 | a0010c0012 | a0010c0012t0002 | a0010c0012t0002g0125 | 1 | 251 | 0.0040 | 866 | c.194 others(883): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 2/4 | chr21 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46878326 | A | AGAGAGAA others(859): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 1 | 112 | 0.0089 | 866 | c.638 others(881): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TBC1D22A_chr22_46757650_47180693 | 46878326 | A | AGAGAGAA others(859): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0006 | 1 | 112 | 0.0089 | 866 | c.638 others(881): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TMEM120B_chr12_121707752_121787068 | 121747727 | C | CGGGAGGC others(859): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0203 | 1 | 314 | 0.0032 | 866 | c.189 others(881): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM120B_chr12_121707752_121787068 | 121747727 | C | CGGGAGGC others(859): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0233 | 1 | 314 | 0.0032 | 866 | c.189 others(881): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TP53AIP1_chr11_128930370_128947871 | 128930588 | C | CCAGGGTT others(859): Show |
downstream_gene_variant | MODIFIER | NA18953.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017 | 1 | 466 | 0.0022 | 866 | c.*50 others(877): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4781 | chr11 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53204081 | T | TTATATCA others(859): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 174 | 0.0058 | 866 | c.41- others(883): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(859): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 2 | 360 | 0.0056 | 866 | c.*24 others(877): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870214 | C | CCACACAC others(859): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 338 | 0.0030 | 866 | c.*35 others(885): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
VCX3B_chrX_8459830_8471510 | 8467385 | A | AGGTGTGT others(859): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0003 | 1 | 271 | 0.0037 | 866 | c.*10 others(877): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 876 | chrX | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACAATA others(860): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0011 | 1 | 182 | 0.0055 | 867 | c.505 others(886): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(860): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01433.hp1 HG01884.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0024a0001c0001t0001g0138a0001c0001t0001g0140others(2): Show | 6 | 336 | 0.0179 | 867 | c.94+ others(882): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | ||||||
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(860): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 336 | 0.0030 | 867 | c.94+ others(882): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | ||||||
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(860): Show |
intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0217a0001c0001t0005g0218 | 2 | 336 | 0.0060 | 867 | c.94+ others(882): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2520300 | C | CCCAATGG others(860): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03139.hp1 HG03195.hp1 |
a0001a0004 | a0001c0017a0004c0034a0004c0039 | a0001c0017t0006a0004c0034t0009a0004c0039t0009 | a0001c0017t0006g0006a0004c0034t0009g0041a0004c0039t0009g0040 | 3 | 104 | 0.0289 | 867 | c.139 others(886): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 6940912 | A | AGGGGGTC others(860): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 1 | 58 | 0.0172 | 867 | c.234 others(888): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CDCP1_chr3_45077277_45151378 | 45133445 | A | ATGGTGGC others(860): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0005 | a0002c0005t0016 | a0002c0005t0016g0245 | 1 | 384 | 0.0026 | 867 | c.82+ others(884): Show |
CDCP1 | ENSG00000163814.8 | transcript | ENST00000296129.6 | protein_coding | 1/8 | chr3 | TogoVar | ||||||
CDCP1_chr3_45077277_45151378 | 45133446 | T | TGGTGGCT others(860): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0235 | 1 | 384 | 0.0026 | 867 | c.82+ others(884): Show |
CDCP1 | ENSG00000163814.8 | transcript | ENST00000296129.6 | protein_coding | 1/8 | chr3 | TogoVar | ||||||
CDCP1_chr3_45077277_45151378 | 45133446 | T | TGGTGGCT others(860): Show |
intron_variant | MODIFIER | NA18944.hp1 NA18968.hp1 NA19000.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0089a0001c0001t0001g0090a0001c0001t0001g0106others(1): Show | 4 | 384 | 0.0104 | 867 | c.82+ others(884): Show |
CDCP1 | ENSG00000163814.8 | transcript | ENST00000296129.6 | protein_coding | 1/8 | chr3 | TogoVar | ||||||
CDCP1_chr3_45077277_45151378 | 45133446 | T | TGGTGGCT others(860): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02896.hp2 HG02897.hp2 |
a0002a0004 | a0002c0002a0004c0015 | a0002c0002t0002a0004c0015t0007 | a0002c0002t0002g0142a0002c0002t0002g0143a0004c0015t0007g0147 | 3 | 384 | 0.0078 | 867 | c.82+ others(884): Show |
CDCP1 | ENSG00000163814.8 | transcript | ENST00000296129.6 | protein_coding | 1/8 | chr3 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320483 | A | ATATTATA others(860): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0200 | 1 | 236 | 0.0042 | 867 | c.342 others(888): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGTGG others(860): Show |
upstream_gene_variant | MODIFIER | HG04115.hp2 | a0000 | a0000c0006 | a0000c0006t0015 | a0000c0006t0015g0032 | 1 | 168 | 0.0060 | 867 | c.-26 others(876): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | ||||||
DCDC2_chr6_24166755_24363059 | 24238175 | A | AGGGAGGG others(860): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0187 | 1 | 216 | 0.0046 | 867 | c.923 others(886): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | ||||||
DCLK2_chr4_150073445_150262438 | 150251087 | A | ACATCCCC others(860): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 116 | 0.0086 | 867 | c.207 others(886): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | chr4 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89634545 | C | CCCTTCCT others(860): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 250 | 0.0040 | 867 | c.105 others(884): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
EML1_chr14_99788413_99947060 | 99928068 | G | GTGGTGGT others(860): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0215 | 1 | 288 | 0.0035 | 867 | c.190 others(886): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EPHB2_chr1_22705839_22926500 | 22754841 | G | GGAGGTGA others(860): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0160 | 1 | 248 | 0.0040 | 867 | c.62- others(884): Show |
EPHB2 | ENSG00000133216.17 | transcript | ENST00000374630.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EPHB2_chr1_22705839_22926500 | 22754841 | G | GGAGGTGA others(860): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(47): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0083a0001c0001t0001g0173a0001c0001t0001g0176others(47): Show | 50 | 248 | 0.2016 | 867 | c.62- others(884): Show |
EPHB2 | ENSG00000133216.17 | transcript | ENST00000374630.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
FBXO47_chr17_38931432_38972403 | 38946735 | T | TATATATG others(860): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 344 | 0.0029 | 867 | c.617 others(884): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
FCMR_chr1_206898317_206926941 | 206924611 | T | TGAGTGTG others(860): Show |
upstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0065 | 1 | 380 | 0.0026 | 867 | c.-27 others(878): Show |
FCMR | ENSG00000162894.12 | transcript | ENST00000367091.8 | protein_coding | 2671 | chr1 | TogoVar | ||||||
GPIHBP1_chr8_143208218_143222170 | 143218336 | C | CAACACCA others(860): Show |
downstream_gene_variant | MODIFIER | HG02165.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 106 | 0.0094 | 867 | c.*28 others(878): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1167 | chr8 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(860): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02809.hp1 HG02818.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0010a0001c0001t0003g0012a0001c0001t0003g0047others(1): Show | 6 | 350 | 0.0171 | 867 | c.94- others(880): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar |