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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GPSM2_chr1_108871985_108939545 | 108873398 | ATATATAT others(44): Show |
A | upstream_gene_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0002 | a0002c0002t0020 | a0002c0002t0020g0006 | 1 | 258 | 0.0039 | -51 | c.-40 others(62): Show |
GPSM2 | ENSG00000121957.15 | transcript | ENST00000264126.9 | protein_coding | 3586 | chr1 | TogoVar | |||||||
GREM2_chr1_240484573_240617155 | 240536567 | GGAGTTTA others(44): Show |
G | intron_variant | MODIFIER | HG01261.hp1 HG01496.hp1 HG01884.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0062 a0001c0001t0001g0098 a0001c0001t0001g0128 others(10): Show |
13 | 119 | 0.1092 | -51 | c.-1- others(68): Show |
GREM2 | ENSG00000180875.5 | transcript | ENST00000318160.5 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
GREM2_chr1_240484573_240617155 | 240536691 | CGGGGGCT others(44): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG01081.hp2 HG02055.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0050 a0001c0001t0002g0222 a0001c0001t0002g0324 others(8): Show |
11 | 374 | 0.0294 | -51 | c.-1- others(68): Show |
GREM2 | ENSG00000180875.5 | transcript | ENST00000318160.5 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
GRID2_chr4_92298966_93779566 | 92578041 | TTTCTTCT others(44): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG01496.hp1 HG01978.hp1 others(4): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0023 others(4): Show |
7 | 8 | 0.8750 | -51 | c.89- others(68): Show |
GRID2 | ENSG00000152208.13 | transcript | ENST00000282020.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GRIK5_chr19_41993324_42075206 | 42048844 | GGCTGGGC others(44): Show |
G | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0165 | 1 | 170 | 0.0059 | -51 | c.126 others(70): Show |
GRIK5 | ENSG00000105737.10 | transcript | ENST00000593562.6 | protein_coding | 11/19 | chr19 | TogoVar | |||||||
GRIN2A_chr16_9748408_10187428 | 10165685 | GGGAGGGG others(44): Show |
G | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0078 | 1 | 21 | 0.0476 | -51 | c.414 others(70): Show |
GRIN2A | ENSG00000183454.18 | transcript | ENST00000330684.4 | protein_coding | 2/12 | chr16 | TogoVar | |||||||
GRK5_chr10_119202571_119464745 | 119287302 | AAGGAAGG others(44): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00639.hp1 others(143): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(92): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0018 others(143): Show |
146 | 200 | 0.7300 | -51 | c.53- others(68): Show |
GRK5 | ENSG00000198873.12 | transcript | ENST00000392870.3 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GSG1L_chr16_27782528_28068714 | 27888431 | TCTTTCTT others(44): Show |
T | intron_variant | MODIFIER | HG01978.hp1 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0113 a0001c0001t0004g0166 |
2 | 238 | 0.0084 | -51 | c.398 others(68): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 2/6 | chr16 | TogoVar | |||||||
GSN_chr9_121263162_121337842 | 121322205 | TTCCAGTA others(44): Show |
T | intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 320 | 0.0031 | -51 | c.132 others(68): Show |
GSN | ENSG00000148180.22 | transcript | ENST00000432226.7 | protein_coding | 11/17 | chr9 | TogoVar | |||||||
GTDC1_chr2_143933068_144337512 | 144133443 | ATATATAA others(44): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0078 | 1 | 122 | 0.0082 | -51 | c.521 others(68): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 306875 | AGTCAGAA others(44): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00558.hp2 others(87): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0003a0002c0002others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(24): Show | a0001c0001t0001g0003 a0001c0001t0001g0042 a0001c0001t0002g0001 others(78): Show |
90 | 152 | 0.5921 | -51 | c.142 others(68): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 9/9 | chrX | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 315823 | CACACACA others(44): Show |
C | intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0028 | 1 | 153 | 0.0065 | -51 | c.488 others(66): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
GUCY2C_chr12_14607632_14701599 | 14696960 | GTGTATAT others(44): Show |
G | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02486.hp2 |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0130 a0001c0005t0002g0131 a0001c0005t0002g0132 |
3 | 230 | 0.0130 | -51 | c.-56 others(60): Show |
GUCY2C | ENSG00000070019.5 | transcript | ENST00000261170.5 | protein_coding | 362 | chr12 | TogoVar | |||||||
GYG1_chr3_148986540_149036775 | 149014482 | GAAGAAGA others(44): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG01255.hp1 HG04115.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0009a0001c0002t0001 | a0001c0001t0003g0114 a0001c0001t0003g0137 a0001c0001t0009g0113 others(1): Show |
4 | 412 | 0.0097 | -51 | c.608 others(68): Show |
GYG1 | ENSG00000163754.18 | transcript | ENST00000345003.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
HBQ1_chr16_175459_186179 | 186128 | GACACGGG others(44): Show |
G | downstream_gene_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 382 | 0.0026 | -51 | c.*50 others(62): Show |
HBQ1 | ENSG00000086506.3 | transcript | ENST00000199708.3 | protein_coding | 4950 | chr16 | TogoVar | |||||||
HECTD4_chr12_112155195_112387431 | 112323975 | TTCCTTCC others(44): Show |
T | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0204 | 1 | 266 | 0.0038 | -51 | c.178 others(68): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 1/75 | chr12 | TogoVar | |||||||
HELZ2_chr20_63553086_63579239 | 63571772 | GCTCCAAG others(44): Show |
G | intron_variant | MODIFIER | NA20905.hp1 | a0092 | a0092c0064 | a0092c0064t0101 | a0092c0064t0101g0238 | 1 | 289 | 0.0035 | -51 | c.278 others(66): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
HERPUD2_chr7_35627659_35700135 | 35631864 | TATATATA others(44): Show |
T | downstream_gene_variant | MODIFIER | HG01975.hp1 HG03491.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0012 | a0002c0002t0002g0265 a0002c0002t0012g0250 |
2 | 389 | 0.0051 | -51 | c.*17 others(62): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 794 | chr7 | TogoVar | |||||||
HERPUD2_chr7_35627659_35700135 | 35632266 | CATATATA others(44): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00738.hp1 others(61): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0002g0220 a0001c0001t0002g0229 a0001c0001t0004g0001 others(48): Show |
64 | 390 | 0.1641 | -51 | c.*13 others(62): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 392 | chr7 | TogoVar | |||||||
HHIPL1_chr14_99640129_99685569 | 99656841 | AAGGAAGG others(44): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02602.hp2 HG02818.hp1 |
a0001a0002 | a0001c0003a0002c0004 | a0001c0003t0003a0001c0003t0030a0002c0004t0005 | a0001c0003t0003g0133 a0001c0003t0030g0098 a0002c0004t0005g0142 |
3 | 358 | 0.0084 | -51 | c.903 others(66): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
HIVEP1_chr6_12007312_12169999 | 12168064 | CATATATA others(44): Show |
C | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00621.hp2 HG00735.hp1 others(81): Show |
a0001a0003a0032 | a0001c0001a0001c0013a0001c0048others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0022 others(81): Show |
84 | 318 | 0.2642 | -51 | c.*36 others(62): Show |
HIVEP1 | ENSG00000095951.17 | transcript | ENST00000379388.7 | protein_coding | 3066 | chr6 | TogoVar | |||||||
HLA-DPA1_chr6_33059569_33078649 | 33061084 | AAATAAAT others(44): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp1 HG01167.hp1 HG01981.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 5 | 104 | 0.0481 | -51 | c.*42 others(62): Show |
HLA-DPA1 | ENSG00000231389.8 | transcript | ENST00000692443.1 | protein_coding | 3484 | chr6 | TogoVar | |||||||
HMGCL_chr1_23796885_23830429 | 23828925 | CCTGGGCT others(44): Show |
C | upstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 370 | 0.0027 | -51 | c.-35 others(62): Show |
HMGCL | ENSG00000117305.15 | transcript | ENST00000374490.8 | protein_coding | 3497 | chr1 | TogoVar | |||||||
HRH3_chr20_62209960_62225278 | 62212754 | CCCCAGTC others(44): Show |
C | downstream_gene_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 366 | 0.0027 | -51 | c.*32 others(62): Show |
HRH3 | ENSG00000101180.17 | transcript | ENST00000340177.10 | protein_coding | 2205 | chr20 | TogoVar | |||||||
HRK_chr12_116851144_116886441 | 116877327 | ATTACAGG others(44): Show |
A | intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0055 | 1 | 364 | 0.0027 | -51 | c.*56 others(68): Show |
HRK | ENSG00000135116.9 | transcript | ENST00000257572.5 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
HSD17B6_chr12_56758324_56792790 | 56789341 | CAGCCGGG others(44): Show |
C | downstream_gene_variant | MODIFIER | HG02486.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 a0001c0001t0001g0171 |
2 | 358 | 0.0056 | -51 | c.*20 others(62): Show |
HSD17B6 | ENSG00000025423.11 | transcript | ENST00000322165.1 | protein_coding | 1552 | chr12 | TogoVar | |||||||
HSF1_chr8_144286604_144319720 | 144318445 | TGGGATGG others(44): Show |
T | downstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 328 | 0.0030 | -51 | c.*41 others(62): Show |
HSF1 | ENSG00000185122.11 | transcript | ENST00000528838.6 | protein_coding | 3726 | chr8 | TogoVar | |||||||
HSPA1B_chr6_31822738_31835254 | 31829755 | TGTGTAAC others(44): Show |
T | disruptive_inframe_deletion | MODERATE | HG00735.hp2 | a0005 | a0005c0019 | a0005c0019t0001 | a0005c0019t0001g0000 | 1 | 420 | 0.0024 | -51 | c.180 others(60): Show |
p.Cys others(13): Show |
HSPA1B | ENSG00000204388.7 | transcript | ENST00000375650.5 | protein_coding | 1/1 | 2019/2517 | 1806/1926 | 602/641 | chr6 | TogoVar | |||
HSPA4_chr5_133047013_133111449 | 133108877 | CGTCCGGG others(44): Show |
C | downstream_gene_variant | MODIFIER | HG02572.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0019 a0001c0001t0008g0020 |
2 | 362 | 0.0055 | -51 | c.*44 others(62): Show |
HSPA4 | ENSG00000170606.16 | transcript | ENST00000304858.7 | protein_coding | 2429 | chr5 | TogoVar | |||||||
HTR1E_chr6_86932528_87021679 | 87010280 | ACCTCCCG others(44): Show |
A | intron_variant | MODIFIER | NA18977.hp1 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 a0001c0001t0001g0245 |
2 | 298 | 0.0067 | -51 | c.-18 others(70): Show |
HTR1E | ENSG00000168830.8 | transcript | ENST00000305344.7 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HTR3D_chr3_184026742_184044369 | 184034159 | GCAGAATT others(44): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG03471.hp2 NA19240.hp1 |
a0009a0017 | a0009c0011a0017c0020 | a0009c0011t0001a0017c0020t0001 | a0009c0011t0001g0024 a0017c0020t0001g0024 |
3 | 448 | 0.0067 | -51 | c.67- others(65): Show |
HTR3D | ENSG00000186090.11 | transcript | ENST00000428798.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IBA57_chr1_228160804_228187257 | 228174450 | TGTGGGCG others(44): Show |
T | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0087 | a0001c0001t0087g0009 | 1 | 414 | 0.0024 | -51 | c.342 others(66): Show |
IBA57 | ENSG00000181873.13 | transcript | ENST00000366711.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
IFNLR1_chr1_24149168_24192289 | 24162725 | TTTCTTTC others(44): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01243.hp1 HG01993.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0047a0001c0002t0001others(4): Show | a0001c0001t0001g0165 a0001c0001t0001g0218 a0001c0001t0001g0267 others(9): Show |
15 | 394 | 0.0381 | -51 | c.368 others(68): Show |
IFNLR1 | ENSG00000185436.12 | transcript | ENST00000327535.6 | protein_coding | 3/6 | chr1 | TogoVar | |||||||
IGF2BP2_chr3_185638130_185830042 | 185665497 | GAGGAGAA others(44): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG03017.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0073 a0001c0001t0001g0089 a0001c0001t0001g0131 others(1): Show |
4 | 203 | 0.0197 | -51 | c.120 others(70): Show |
IGF2BP2 | ENSG00000073792.16 | transcript | ENST00000382199.7 | protein_coding | 10/15 | chr3 | TogoVar | |||||||
IL19_chr1_206765773_206847981 | 206781919 | AGTTATAT others(44): Show |
A | intron_variant | MODIFIER | NA19010.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0244 | 1 | 318 | 0.0031 | -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 | 28737140 | TCCTTCCT others(44): Show |
T | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0073 | 1 | 135 | 0.0074 | -51 | c.-24 others(70): Show |
IL1RAPL1 | ENSG00000169306.11 | transcript | ENST00000378993.6 | protein_coding | 1/10 | chrX | TogoVar | |||||||
IL1RAPL2_chrX_104561199_105772829 | 104761893 | CCTTCTCC others(44): Show |
C | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0138 | 1 | 137 | 0.0073 | -51 | c.82+ others(70): Show |
IL1RAPL2 | ENSG00000189108.14 | transcript | ENST00000372582.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL1RAPL2_chrX_104561199_105772829 | 104761899 | CCTTCTCC others(44): Show |
C | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0070 | 1 | 133 | 0.0075 | -51 | c.82+ others(70): Show |
IL1RAPL2 | ENSG00000189108.14 | transcript | ENST00000372582.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
INAVA_chr1_200889900_200920742 | 200911058 | AAAAAAAG others(44): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00609.hp1 others(71): Show |
a0001a0006a0009 | a0001c0002a0001c0007a0006c0010others(1): Show | a0001c0002t0002a0001c0002t0005a0001c0002t0007others(9): Show | a0001c0002t0002g0007 a0001c0002t0002g0031 a0001c0002t0002g0041 others(31): Show |
74 | 422 | 0.1754 | -51 | c.960 others(66): Show |
INAVA | ENSG00000163362.11 | transcript | ENST00000413687.3 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132606226 | AGGGTCCT others(44): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG01192.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0012 | a0001c0001t0001a0002c0012t0002 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(4): Show |
7 | 199 | 0.0352 | -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 | 132717846 | CGGGTTCT others(44): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG02280.hp2 others(5): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0002a0001c0004t0012others(1): Show | a0001c0004t0001g0011 a0001c0004t0001g0012 a0001c0004t0002g0013 others(5): Show |
8 | 202 | 0.0396 | -51 | c.647 others(68): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132718678 | GCCTGGGT others(44): Show |
G | intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 202 | 0.0050 | -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 | 132718911 | GCTGTCTT others(44): Show |
G | intron_variant | MODIFIER | HG01261.hp1 HG02109.hp1 HG02145.hp1 others(6): Show |
a0001 | a0001c0005a0001c0006a0001c0007 | a0001c0005t0001a0001c0005t0002a0001c0005t0018others(4): Show | a0001c0005t0001g0185 a0001c0005t0001g0186 a0001c0005t0002g0039 others(6): Show |
9 | 199 | 0.0452 | -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 | 132719379 | CGGGTTCT others(44): Show |
C | intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0199 | 1 | 202 | 0.0050 | -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 | 132719430 | AGGGTTCT others(44): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG02109.hp1 HG02145.hp1 others(6): Show |
a0001 | a0001c0005a0001c0006a0001c0007 | a0001c0005t0001a0001c0005t0002a0001c0005t0018others(4): Show | a0001c0005t0001g0185 a0001c0005t0001g0186 a0001c0005t0002g0039 others(6): Show |
9 | 202 | 0.0446 | -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 | 132720354 | AGGGTTCT others(44): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG02809.hp1 HG02965.hp2 others(1): Show |
a0001 | a0001c0005a0001c0006a0001c0007 | a0001c0005t0002a0001c0006t0001a0001c0006t0008others(1): Show | a0001c0005t0002g0039 a0001c0006t0001g0188 a0001c0006t0008g0187 others(1): Show |
4 | 202 | 0.0198 | -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 | 132721599 | ACCTGGGT others(44): Show |
A | intron_variant | MODIFIER | HG03490.hp2 HG03492.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0002c0002t0002 | a0001c0001t0011g0141 a0002c0002t0002g0098 |
2 | 202 | 0.0099 | -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 | 132721688 | CGGGTTCT others(44): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG02280.hp2 others(5): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0002a0001c0004t0012others(1): Show | a0001c0004t0001g0011 a0001c0004t0001g0012 a0001c0004t0002g0013 others(5): Show |
8 | 202 | 0.0396 | -51 | c.648 others(68): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INSC_chr11_15109923_15252208 | 15229965 | TATATATA others(44): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01081.hp1 others(12): Show |
a0001 | a0001c0002a0001c0013a0001c0018 | a0001c0002t0001a0001c0002t0004a0001c0002t0006others(3): Show | a0001c0002t0001g0089 a0001c0002t0004g0007 a0001c0002t0004g0063 others(12): Show |
15 | 251 | 0.0598 | -51 | c.117 others(70): Show |
INSC | ENSG00000188487.12 | transcript | ENST00000379556.8 | protein_coding | 9/12 | chr11 | TogoVar | |||||||
IQCE_chr7_2553979_2619728 | 2577332 | ACATTGGC others(44): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01123.hp2 HG01175.hp2 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0004 | a0001c0003t0001g0202 a0001c0003t0001g0204 a0001c0003t0004g0175 |
3 | 414 | 0.0072 | -51 | c.466 others(66): Show |
IQCE | ENSG00000106012.19 | transcript | ENST00000402050.7 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |