| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SIGIRR_chr11_400716_419999 | 401770 | GCCCCGCT others(934): Show |
G | downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 242 | 0.0041 | -941 | c.*31 others(11): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3945 | chr11 | TogoVar | ||||||
| FOXQ1_chr6_1307098_1319758 | 1318797 | CGCGGTGG others(933): Show |
C | downstream_gene_variant | MODIFIER | HG03491.hp2 HG03942.hp1 |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0002a0003c0002t0003 | a0001c0001t0002g0000a0003c0002t0003g0000 | 2 | 406 | 0.0049 | -940 | c.*48 others(11): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 4040 | chr6 | TogoVar | ||||||
| KCNIP4_chr4_20723606_21953772 | 21455823 | ATATATAT others(933): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012 | a0001c0001t0003g0030a0001c0001t0012g0045 | 2 | 80 | 0.0250 | -940 | c.61+ others(19): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1235661 | CCCCTCTC others(932): Show |
C | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0025 | 1 | 106 | 0.0094 | -939 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1235669 | CCTCCCGG others(932): Show |
C | intron_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0002 | a0002c0002t0048 | a0002c0002t0048g0068 | 1 | 106 | 0.0094 | -939 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| ARIH2_chr3_48913842_48991382 | 48920354 | GATTAAAA others(932): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00544.hp1 others(112): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(112): Show | 115 | 202 | 0.5693 | -939 | c.-16 others(19): Show |
ARIH2 | ENSG00000177479.20 | transcript | ENST00000356401.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ELMO1_chr7_36847906_37453864 | 37146982 | CACCACTT others(932): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0075 | 1 | 92 | 0.0109 | -939 | c.108 others(21): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 13/21 | chr7 | TogoVar | ||||||
| HMGN5_chrX_81108699_81206913 | 81160993 | TAAAATTT others(932): Show |
T | intron_variant | MODIFIER | HG02630.hp2 HG02818.hp2 HG03041.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0103a0001c0001t0001g0104a0001c0001t0001g0106others(3): Show | 6 | 225 | 0.0267 | -939 | c.-12 others(21): Show |
HMGN5 | ENSG00000198157.11 | transcript | ENST00000358130.7 | protein_coding | 1/6 | chrX | TogoVar | ||||||
| KCP_chr7_128871865_128915709 | 128912634 | TGAGGCTG others(932): Show |
T | upstream_gene_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 372 | 0.0027 | -939 | c.-28 others(11): Show |
KCP | ENSG00000135253.16 | transcript | ENST00000610776.5 | protein_coding | 1926 | chr7 | TogoVar | ||||||
| TEX11_chrX_70523940_70913711 | 70903141 | GAAGGAAC others(932): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG02155.hp2 HG02165.hp1 others(17): Show |
a0002a0006 | a0002c0002a0006c0010 | a0002c0002t0001a0006c0010t0001 | a0002c0002t0001g0005a0002c0002t0001g0007a0002c0002t0001g0008others(17): Show | 20 | 229 | 0.0873 | -939 | c.37+ others(15): Show |
TEX11 | ENSG00000120498.14 | transcript | ENST00000374333.7 | protein_coding | 2/29 | chrX | TogoVar | ||||||
| TMEM132D_chr12_129066726_129909025 | 129855925 | GTGCCCTT others(932): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG02809.hp2 HG03041.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0008a0001c0001t0010a0001c0002t0004others(1): Show | a0001c0001t0008g0092a0001c0001t0010g0034a0001c0002t0004g0009others(1): Show | 4 | 94 | 0.0426 | -939 | c.79+ others(17): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
| KCNIP4_chr4_20723606_21953772 | 21455825 | ATATATAT others(931): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG03516.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0014a0001c0001t0001g0075a0001c0001t0002g0063 | 3 | 80 | 0.0375 | -938 | c.61+ others(19): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
| LARGE1_chr22_33267509_33925476 | 33391077 | CGCCTCGG others(931): Show |
C | intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0008 | a0001c0008t0016 | a0001c0008t0016g0042 | 1 | 110 | 0.0091 | -938 | c.893 others(17): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 7/14 | chr22 | TogoVar | ||||||
| MYT1_chr20_64159452_64247253 | 64173886 | CCTGCAGC others(931): Show |
C | intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 223 | 0.0045 | -938 | c.-99 others(18): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| P2RX5_chr17_3668227_3701155 | 3686365 | TCCCCCGC others(931): Show |
T | intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0023 | 1 | 362 | 0.0028 | -938 | c.981 others(16): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 256958 | CGTGACTA others(931): Show |
C | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 133 | 0.0075 | -938 | c.439 others(18): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
| ZNF512_chr2_27578042_27628217 | 27587918 | GATCTGCC others(930): Show |
G | intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 332 | 0.0030 | -937 | c.89+ others(15): Show |
ZNF512 | ENSG00000243943.10 | transcript | ENST00000355467.6 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
| IFT88_chr13_20562157_20696444 | 20618122 | ATGTTAGC others(929): Show |
A | intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 308 | 0.0033 | -936 | c.119 others(19): Show |
IFT88 | ENSG00000032742.18 | transcript | ENST00000351808.10 | protein_coding | 14/25 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| L3MBTL4_chr18_5949717_6419911 | 6272556 | CACAGAAG others(929): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG03516.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0047a0002c0002t0001g0079 | 2 | 94 | 0.0213 | -936 | c.128 others(17): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 4/18 | chr18 | TogoVar | ||||||
| SMOC2_chr6_168436184_168672992 | 168560546 | GCCCTGAG others(929): Show |
G | intron_variant | MODIFIER | HG02809.hp2 HG03490.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0008 | a0001c0002t0002g0064a0001c0002t0008g0047 | 2 | 180 | 0.0111 | -936 | 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(929): Show |
A | intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 180 | 0.0056 | -936 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SMYD3_chr1_245744347_246512279 | 245976041 | AGCCTAGG others(929): Show |
A | intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0074 | 1 | 150 | 0.0067 | -936 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1107045 | GCTTGGTA others(929): Show |
G | intron_variant | MODIFIER | HG02615.hp2 | a0018 | a0018c0023 | a0018c0023t0001 | a0018c0023t0001g0048 | 1 | 190 | 0.0053 | -936 | c.325 others(17): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| VGLL4_chr3_11551069_11648915 | 11604262 | AAGCACGG others(929): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00609.hp2 others(55): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0021others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(55): Show | 58 | 388 | 0.1495 | -936 | c.83- others(15): Show |
VGLL4 | ENSG00000144560.16 | transcript | ENST00000430365.7 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
| LUC7L_chr16_183990_234449 | 186034 | AGGAATAC others(928): Show |
A | downstream_gene_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 350 | 0.0029 | -935 | c.*22 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2955 | chr16 | TogoVar | ||||||
| ACYP2_chr2_53966113_54310300 | 54145505 | CAAACACA others(927): Show |
C | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0107 | 1 | 272 | 0.0037 | -934 | c.404 others(17): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | chr2 | TogoVar | ||||||
| DNAH12_chr3_57288700_57549344 | 57305407 | CTATAATC others(927): Show |
C | intron_variant | MODIFIER | HG03139.hp2 | a0019 | a0019c0030 | a0019c0030t0001 | a0019c0030t0001g0147 | 1 | 266 | 0.0038 | -934 | c.111 others(21): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 69/73 | chr3 | TogoVar | ||||||
| IL3RA_chrX_1331785_1387689 | 1368708 | ACACAGGG others(927): Show |
A | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 115 | 0.0087 | -934 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| PRELID3A_chr18_12402929_12437234 | 12425436 | TGGTGAAA others(927): Show |
T | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0144 | 1 | 394 | 0.0025 | -934 | c.292 others(16): Show |
PRELID3A | ENSG00000141391.14 | transcript | ENST00000440960.6 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| ARHGEF10_chr8_1818926_1963641 | 1919119 | ATGGGTGA others(926): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02572.hp1 HG02615.hp1 others(1): Show |
a0001a0004 | a0001c0002a0001c0003a0001c0141others(1): Show | a0001c0002t0001a0001c0003t0003a0001c0141t0007others(1): Show | a0001c0002t0001g0327a0001c0003t0003g0362a0001c0141t0007g0099others(1): Show | 4 | 363 | 0.0110 | -933 | c.214 others(19): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 18/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DEAF1_chr11_639233_700222 | 654226 | TGGTGCGA others(926): Show |
T | intron_variant | MODIFIER | HG02630.hp1 HG02818.hp2 HG03209.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0195a0001c0002t0001g0197a0001c0002t0001g0198 | 3 | 345 | 0.0087 | -933 | c.150 others(18): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 10/11 | chr11 | TogoVar | ||||||
| DENND2A_chr7_140513420_140645813 | 140583251 | GTGAGCCG others(926): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG02451.hp1 HG02615.hp1 others(18): Show |
a0001a0002a0003 | a0001c0003a0002c0002a0002c0009others(5): Show | a0001c0003t0002a0001c0003t0003a0002c0002t0001others(8): Show | a0001c0003t0002g0035a0001c0003t0003g0024a0001c0003t0003g0252others(18): Show | 21 | 254 | 0.0827 | -933 | c.124 others(19): Show |
DENND2A | ENSG00000146966.13 | transcript | ENST00000496613.6 | protein_coding | 5/19 | chr7 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241805521 | TCCCTCCC others(926): Show |
T | downstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 314 | 0.0032 | -933 | c.*13 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1235 | chr2 | TogoVar | ||||||
| MPPE1_chr18_11877622_11913317 | 11900649 | TGTAATCC others(926): Show |
T | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0139 | a0001c0001t0139g0397 | 1 | 456 | 0.0022 | -933 | c.-92 others(17): Show |
MPPE1 | ENSG00000154889.17 | transcript | ENST00000588072.6 | protein_coding | 2/10 | chr18 | TogoVar | ||||||
| TMEM132D_chr12_129066726_129909025 | 129857367 | GGAGTCCG others(926): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG02818.hp1 HG02976.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0013 | a0001c0001t0001a0001c0001t0007a0001c0001t0014others(2): Show | a0001c0001t0001g0013a0001c0001t0007g0029a0001c0001t0014g0004others(2): Show | 5 | 94 | 0.0532 | -933 | c.79+ others(17): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
| UNKL_chr16_1358205_1419704 | 1372998 | ACACAGGG others(926): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02723.hp1 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0029a0001c0013t0053 | a0001c0001t0029g0059a0001c0013t0053g0014 | 2 | 322 | 0.0062 | -933 | c.126 others(19): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 10/14 | chr16 | TogoVar | ||||||
| BACH2_chr6_89921528_90301843 | 90090633 | TTTACCAT others(925): Show |
T | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0103 | 1 | 194 | 0.0052 | -932 | c.-16 others(19): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | ||||||
| CRAMP1_chr16_1607360_1682908 | 1616557 | AGGTCAAT others(925): Show |
A | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0272 | 1 | 332 | 0.0030 | -932 | c.346 others(17): Show |
CRAMP1 | ENSG00000007545.16 | transcript | ENST00000397412.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| LMLN_chr3_197955217_198048720 | 198004301 | CCATCTAT others(925): Show |
C | intron_variant | MODIFIER | HG02451.hp1 | a0004 | a0004c0006 | a0004c0006t0052 | a0004c0006t0052g0099 | 1 | 258 | 0.0039 | -932 | c.131 others(19): Show |
LMLN | ENSG00000185621.11 | transcript | ENST00000420910.7 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PBX3_chr9_125742373_125972377 | 125887285 | AGAAAGCT others(925): Show |
A | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0069 | 1 | 294 | 0.0034 | -932 | c.275 others(19): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | chr9 | TogoVar | ||||||
| SMAD3_chr15_67060602_67200169 | 67112334 | TTTTTTTA others(925): Show |
T | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0167 | 1 | 310 | 0.0032 | -932 | c.206 others(19): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| SMN1_chr5_70920087_70958015 | 70954768 | GCTTGAAC others(925): Show |
G | downstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 36 | 0.0278 | -932 | c.*23 others(11): Show |
SMN1 | ENSG00000172062.17 | transcript | ENST00000380707.9 | protein_coding | 1754 | chr5 | TogoVar | ||||||
| SRGAP2B_chr1_144882288_145100328 | 144882843 | GCCGCGGC others(925): Show |
G | downstream_gene_variant | MODIFIER | HG01978.hp1 HG02083.hp1 HG02135.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0018a0001c0001t0001g0021a0001c0001t0001g0047others(2): Show | 5 | 56 | 0.0893 | -932 | c.*83 others(11): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4444 | chr1 | TogoVar | ||||||
| VPS53_chr17_503668_719839 | 594827 | CGAGGAAG others(925): Show |
C | intron_variant | MODIFIER | HG04184.hp1 | a0004 | a0004c0008 | a0004c0008t0035 | a0004c0008t0035g0203 | 1 | 232 | 0.0043 | -932 | c.121 others(19): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 12/21 | chr17 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1405407 | GAGTGCTT others(924): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG01071.hp1 HG01361.hp1 others(9): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0022others(7): Show | a0001c0002t0001g0015a0001c0002t0001g0019a0001c0002t0002g0021others(9): Show | 12 | 40 | 0.3000 | -931 | c.107 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| IRS2_chr13_109747695_109791583 | 109765495 | AACTCCCC others(924): Show |
A | intron_variant | MODIFIER | HG03688.hp2 HG04204.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0042 | 2 | 398 | 0.0050 | -931 | c.401 others(20): Show |
IRS2 | ENSG00000185950.9 | transcript | ENST00000375856.5 | protein_coding | 1/1 | chr13 | TogoVar | ||||||
| P2RX5_chr17_3668227_3701155 | 3685910 | TCCCCCGC others(924): Show |
T | intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0193 | 1 | 362 | 0.0028 | -931 | c.981 others(17): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| SLURP2_chr8_142759338_142774828 | 142759929 | CGCACCAT others(924): Show |
C | downstream_gene_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 446 | 0.0022 | -931 | c.*37 others(11): Show |
SLURP2 | ENSG00000283992.2 | transcript | ENST00000317543.12 | protein_coding | 4408 | chr8 | TogoVar | ||||||
| SMAD3_chr15_67060602_67200169 | 67112349 | TGAGGTTT others(924): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG01169.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0225a0001c0001t0001g0226a0001c0001t0002g0211others(9): Show | 12 | 310 | 0.0387 | -931 | c.206 others(19): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| SMAD3_chr15_67060602_67200169 | 67112366 | GGTCAAGC others(924): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG02258.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0018others(1): Show | a0001c0001t0001g0287a0001c0001t0007g0280a0001c0001t0018g0020others(2): Show | 5 | 310 | 0.0161 | -931 | c.206 others(19): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |