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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HLA-F_chr6_29718434_29732296 | 29722774 | G | GGAAGAAG others(44): Show |
upstream_gene_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 295 | 0.0034 | 51 | c.-69 others(60): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 659 | chr6 | TogoVar | |||||||
HMCN2_chr9_130260760_130439123 | 130312539 | C | CCCTCCCT others(44): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 117 | 0.0085 | 51 | c.235 others(70): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 15/97 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
HMGN1_chr21_39337315_39354088 | 39337369 | G | GATATATA others(44): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 110 | 0.0091 | 51 | c.*57 others(62): Show |
HMGN1 | ENSG00000205581.11 | transcript | ENST00000380749.10 | protein_coding | 4945 | chr21 | TogoVar | |||||||
HOXC8_chr12_54003985_54017769 | 54014000 | T | TTCTCTTC others(44): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 146 | 0.0068 | 51 | c.*26 others(62): Show |
HOXC8 | ENSG00000037965.6 | transcript | ENST00000040584.6 | protein_coding | 1232 | chr12 | TogoVar | |||||||
HOXC8_chr12_54003985_54017769 | 54014000 | T | TTCTCTTC others(44): Show |
downstream_gene_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0001 | 1 | 146 | 0.0068 | 51 | c.*26 others(62): Show |
HOXC8 | ENSG00000037965.6 | transcript | ENST00000040584.6 | protein_coding | 1232 | chr12 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399220 | C | CCACCACC others(44): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0187 | 1 | 288 | 0.0035 | 51 | c.-25 others(68): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HRCT1_chr9_35901202_35912136 | 35906568 | G | GCCACACC others(44): Show |
disruptive_inframe_insertion | MODERATE | HG00741.hp2 HG01261.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0000 a0002c0002t0001g0000 |
2 | 407 | 0.0049 | 51 | c.322 others(58): Show |
p.His others(64): Show |
HRCT1 | ENSG00000196196.3 | transcript | ENST00000354323.3 | protein_coding | 1/1 | 409/935 | 323/348 | 108/115 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
HRCT1_chr9_35901202_35912136 | 35906568 | G | GCCACACC others(44): Show |
disruptive_inframe_insertion | MODERATE | HG01167.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 407 | 0.0049 | 51 | c.328 others(58): Show |
p.His others(64): Show |
HRCT1 | ENSG00000196196.3 | transcript | ENST00000354323.3 | protein_coding | 1/1 | 415/935 | 329/348 | 110/115 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
HRCT1_chr9_35901202_35912136 | 35906586 | T | TCCACCAC others(44): Show |
disruptive_inframe_insertion | MODERATE | HG02258.hp2 | a0006 | a0006c0045 | a0006c0045t0001 | a0006c0045t0001g0000 | 1 | 310 | 0.0032 | 51 | c.316 others(58): Show |
p.His others(64): Show |
HRCT1 | ENSG00000196196.3 | transcript | ENST00000354323.3 | protein_coding | 1/1 | 403/935 | 317/348 | 106/115 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
HRCT1_chr9_35901202_35912136 | 35906589 | A | ACCACCAC others(44): Show |
conservative_inframe_insertion | MODERATE | NA18947.hp1 NA18960.hp1 NA18974.hp2 others(5): Show |
a0008 | a0008c0007 | a0008c0007t0001 | a0008c0007t0001g0000 | 8 | 394 | 0.0203 | 51 | c.339 others(58): Show |
p.His others(64): Show |
HRCT1 | ENSG00000196196.3 | transcript | ENST00000354323.3 | protein_coding | 1/1 | 426/935 | 340/348 | 114/115 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
HS6ST2_chrX_132621015_132963629 | 132637929 | T | TTATATAT others(44): Show |
intron_variant | MODIFIER | HG04199.hp1 NA18975.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 a0001c0001t0002g0051 |
2 | 168 | 0.0119 | 51 | c.106 others(70): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 4/4 | chrX | TogoVar | |||||||
HS6ST3_chr13_96085107_96844562 | 96304712 | T | TTTCTTTC others(44): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 101 | 0.0099 | 51 | c.707 others(72): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HSD17B6_chr12_56758324_56792790 | 56783521 | G | GCGGCCGG others(44): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 358 | 0.0028 | 51 | c.572 others(68): Show |
HSD17B6 | ENSG00000025423.11 | transcript | ENST00000322165.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
HSDL2_chr9_112375108_112477405 | 112476252 | T | TCCCCCCG others(44): Show |
downstream_gene_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 357 | 0.0028 | 51 | c.*57 others(62): Show |
HSDL2 | ENSG00000119471.15 | transcript | ENST00000398805.8 | protein_coding | 3848 | chr9 | TogoVar | |||||||
HSPA4_chr5_133047013_133111449 | 133109021 | T | TGGGGGGG others(44): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00621.hp2 HG00639.hp2 others(51): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0005a0001c0002t0002others(13): Show | a0001c0001t0004g0076 a0001c0001t0005g0021 a0001c0002t0002g0002 others(50): Show |
54 | 274 | 0.1971 | 51 | c.*45 others(62): Show |
HSPA4 | ENSG00000170606.16 | transcript | ENST00000304858.7 | protein_coding | 2573 | chr5 | TogoVar | |||||||
HTRA3_chr4_8264754_8312098 | 8273909 | C | CCCCTCCA others(44): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01109.hp2 HG02145.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0005 a0001c0001t0001g0034 a0001c0001t0001g0035 others(10): Show |
14 | 135 | 0.1037 | 51 | c.385 others(68): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ICE2_chr15_60414609_60484142 | 60450483 | C | CATTTGGT others(44): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0026 | 1 | 268 | 0.0037 | 51 | c.112 others(68): Show |
ICE2 | ENSG00000128915.12 | transcript | ENST00000261520.9 | protein_coding | 9/15 | chr15 | TogoVar | |||||||
ICOSLG_chr21_44217991_44245943 | 44219819 | G | GGAGGAGG others(44): Show |
downstream_gene_variant | MODIFIER | HG01071.hp1 HG01071.hp2 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0003 a0002c0001t0001g0005 |
2 | 6 | 0.3333 | 51 | c.*92 others(62): Show |
ICOSLG | ENSG00000160223.18 | transcript | ENST00000407780.8 | protein_coding | 3171 | chr21 | TogoVar | |||||||
IDH3B_chr20_2653395_2669216 | 2659058 | T | TGAGCAGG others(44): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03453.hp1 HG03486.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0022 a0001c0001t0001g0057 a0003c0005t0001g0031 |
4 | 438 | 0.0091 | 51 | c.107 others(68): Show |
IDH3B | ENSG00000101365.21 | transcript | ENST00000380843.9 | protein_coding | 11/11 | chr20 | TogoVar | |||||||
IDH3B_chr20_2653395_2669216 | 2659082 | C | CGCAGATC others(44): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00597.hp2 others(110): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0014 others(16): Show |
113 | 438 | 0.2580 | 51 | c.107 others(68): Show |
IDH3B | ENSG00000101365.21 | transcript | ENST00000380843.9 | protein_coding | 11/11 | chr20 | TogoVar | |||||||
IDO2_chr8_39929651_40021392 | 39995251 | C | CCTTCTCC others(44): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0029 | 1 | 125 | 0.0080 | 51 | c.667 others(68): Show |
IDO2 | ENSG00000188676.15 | transcript | ENST00000502986.4 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
IDO2_chr8_39929651_40021392 | 39995251 | C | CCTTCTCC others(44): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01168.hp2 HG01169.hp1 others(3): Show |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0001a0005c0005t0002 | a0002c0002t0001g0308 a0002c0002t0001g0315 a0002c0002t0001g0318 others(3): Show |
6 | 130 | 0.0462 | 51 | c.667 others(68): Show |
IDO2 | ENSG00000188676.15 | transcript | ENST00000502986.4 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
IDO2_chr8_39929651_40021392 | 39995251 | C | CCTTCTCC others(44): Show |
intron_variant | MODIFIER | HG01496.hp1 NA18990.hp2 NA19083.hp1 |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0001a0005c0005t0019 | a0002c0002t0001g0291 a0002c0002t0001g0292 a0005c0005t0019g0082 |
3 | 127 | 0.0236 | 51 | c.667 others(68): Show |
IDO2 | ENSG00000188676.15 | transcript | ENST00000502986.4 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
IDO2_chr8_39929651_40021392 | 39995251 | C | CCTTCTCC others(44): Show |
intron_variant | MODIFIER | NA19030.hp2 NA20805.hp1 |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0017a0005c0005t0010 | a0002c0002t0017g0200 a0005c0005t0010g0220 |
2 | 126 | 0.0159 | 51 | c.667 others(68): Show |
IDO2 | ENSG00000188676.15 | transcript | ENST00000502986.4 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
IDO2_chr8_39929651_40021392 | 39995251 | C | CCTTCTCC others(44): Show |
intron_variant | MODIFIER | HG01070.hp2 HG03239.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0118 a0002c0002t0001g0351 |
2 | 126 | 0.0159 | 51 | c.667 others(68): Show |
IDO2 | ENSG00000188676.15 | transcript | ENST00000502986.4 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322403 | T | TATATATA others(44): Show |
upstream_gene_variant | MODIFIER | NA18944.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 318 | 0.0031 | 51 | c.-26 others(62): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2566 | chr21 | TogoVar | |||||||
IFT140_chr16_1505427_1617072 | 1512122 | G | GTGGGGGG others(44): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG02896.hp2 others(2): Show |
a0001a0003 | a0001c0020a0003c0005a0003c0019 | a0001c0020t0003a0003c0005t0003a0003c0019t0003 | a0001c0020t0003g0138 a0001c0020t0003g0139 a0003c0005t0003g0135 others(2): Show |
5 | 332 | 0.0151 | 51 | c.418 others(69): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 30/30 | chr16 | TogoVar | |||||||
IGF1_chr12_102390874_102485563 | 102441906 | G | GCTGCTGC others(44): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0210 | 1 | 99 | 0.0101 | 51 | c.221 others(70): Show |
IGF1 | ENSG00000017427.17 | transcript | ENST00000337514.11 | protein_coding | 2/3 | chr12 | TogoVar | |||||||
IGF1_chr12_102390874_102485563 | 102441906 | G | GCTGCTGC others(44): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 | 1 | 99 | 0.0101 | 51 | c.221 others(70): Show |
IGF1 | ENSG00000017427.17 | transcript | ENST00000337514.11 | protein_coding | 2/3 | chr12 | TogoVar | |||||||
IGF1_chr12_102390874_102485563 | 102441906 | G | GCTGCTGC others(44): Show |
intron_variant | MODIFIER | HG01255.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0121 a0001c0001t0002g0026 |
2 | 100 | 0.0200 | 51 | c.221 others(70): Show |
IGF1 | ENSG00000017427.17 | transcript | ENST00000337514.11 | protein_coding | 2/3 | chr12 | TogoVar | |||||||
IKBIP_chr12_98619249_98649788 | 98632512 | A | AAAAAAAA others(44): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0249 | 1 | 91 | 0.0110 | 51 | c.297 others(68): Show |
IKBIP | ENSG00000166130.15 | transcript | ENST00000299157.5 | protein_coding | 2/2 | chr12 | TogoVar | |||||||
IL17B_chr5_149369267_149384292 | 149370033 | T | TTTTTTTT others(44): Show |
downstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 284 | 0.0035 | 51 | c.*43 others(62): Show |
IL17B | ENSG00000127743.6 | transcript | ENST00000261796.4 | protein_coding | 4233 | chr5 | TogoVar | |||||||
IL19_chr1_206765773_206847981 | 206781945 | A | AGTTATAT others(44): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03453.hp2 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0063 a0001c0001t0001g0136 |
3 | 348 | 0.0086 | 51 | c.-14 others(72): Show |
IL19 | ENSG00000142224.18 | transcript | ENST00000659997.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
IL19_chr1_206765773_206847981 | 206781995 | T | TGTTATAT others(44): Show |
intron_variant | MODIFIER | HG01496.hp1 NA18973.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0005 | a0001c0001t0001g0071 a0002c0002t0005g0219 |
2 | 328 | 0.0061 | 51 | c.-14 others(72): Show |
IL19 | ENSG00000142224.18 | transcript | ENST00000659997.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
IL1RAPL1_chrX_28582446_29961718 | 29333930 | T | TCCCCCCA others(44): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02074.hp1 HG02738.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0064 a0001c0001t0001g0107 a0001c0001t0002g0026 others(3): Show |
6 | 74 | 0.0811 | 51 | c.362 others(70): Show |
IL1RAPL1 | ENSG00000169306.11 | transcript | ENST00000378993.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL1RAPL1_chrX_28582446_29961718 | 29333978 | A | ACCCCCCC others(44): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0042 | 1 | 130 | 0.0077 | 51 | c.362 others(70): Show |
IL1RAPL1 | ENSG00000169306.11 | transcript | ENST00000378993.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL1RL1_chr2_102306563_102357037 | 102311859 | T | TATATATT others(44): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 296 | 0.0034 | 51 | c.-15 others(68): Show |
IL1RL1 | ENSG00000115602.17 | transcript | ENST00000233954.6 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
IL31RA_chr5_55846357_55927850 | 55897015 | A | ATATATAT others(44): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0235 | 1 | 15 | 0.0667 | 51 | c.852 others(66): Show |
IL31RA | ENSG00000164509.16 | transcript | ENST00000652347.2 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IL31RA_chr5_55846357_55927850 | 55897015 | A | ATATATAT others(44): Show |
intron_variant | MODIFIER | HG03195.hp1 HG03579.hp1 |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0005a0003c0004t0017 | a0002c0002t0005g0028 a0003c0004t0017g0314 |
2 | 16 | 0.1250 | 51 | c.852 others(66): Show |
IL31RA | ENSG00000164509.16 | transcript | ENST00000652347.2 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IL33_chr9_6210807_6262983 | 6218844 | T | TATATATA others(44): Show |
intron_variant | MODIFIER | HG02896.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 2 | 342 | 0.0058 | 51 | c.-12 others(68): Show |
IL33 | ENSG00000137033.12 | transcript | ENST00000682010.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
IL36B_chr2_113017089_113057867 | 113017625 | G | GGAAGAAG others(44): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 HG01952.hp2 HG02074.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0024 a0001c0001t0002g0049 others(3): Show |
6 | 221 | 0.0271 | 51 | c.*50 others(62): Show |
IL36B | ENSG00000136696.11 | transcript | ENST00000259213.9 | protein_coding | 4463 | chr2 | TogoVar | |||||||
IL36B_chr2_113017089_113057867 | 113017625 | G | GGAAGAAG others(44): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 1 | 216 | 0.0046 | 51 | c.*50 others(62): Show |
IL36B | ENSG00000136696.11 | transcript | ENST00000259213.9 | protein_coding | 4463 | chr2 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132606226 | A | AGGGTCCT others(44): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0005 | a0001c0005t0018 | a0001c0005t0018g0038 | 1 | 193 | 0.0052 | 51 | c.76- others(66): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132606226 | A | AGGGTCCT others(44): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0203 | 1 | 193 | 0.0052 | 51 | c.76- others(66): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132606323 | C | CCTGCCGG others(44): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02015.hp2 HG04199.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 others(3): Show |
6 | 196 | 0.0306 | 51 | c.76- others(66): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132718911 | G | GCTGTCTT others(44): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0093 |
3 | 193 | 0.0155 | 51 | c.648 others(68): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132764505 | T | TGTGGTGA others(44): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0184 | 1 | 202 | 0.0050 | 51 | c.904 others(68): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132764528 | T | TCGGGCCA others(44): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0204 | 1 | 202 | 0.0050 | 51 | c.904 others(68): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132775127 | G | GAGATGGG others(44): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03098.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0185 a0001c0005t0001g0186 |
2 | 197 | 0.0102 | 51 | c.978 others(68): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | chr10 | TogoVar | |||||||
INTS1_chr7_1465277_1509389 | 1489311 | T | TCCCGGGC others(44): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(306): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0002a0001c0003others(47): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(57): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(219): Show |
309 | 310 | 0.9968 | 51 | c.231 others(66): Show |
INTS1 | ENSG00000164880.16 | transcript | ENST00000404767.8 | protein_coding | 18/47 | chr7 | TogoVar |