| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ZNF516_chr18_76352682_76500242 | 76393158 | GGGGAAGG others(1303): Show |
G | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0006 | a0001c0006t0026 | a0001c0006t0026g0034 | 1 | 346 | 0.0029 | -1310 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 744840 | CGCCGTGG others(1302): Show |
C | intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0089 | 1 | 366 | 0.0027 | -1309 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | chr4 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 745467 | TCCGTGGA others(1302): Show |
T | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0147 | 1 | 366 | 0.0027 | -1309 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 745841 | GGGGGTCG others(1302): Show |
G | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0319 | 1 | 366 | 0.0027 | -1309 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SLC12A7_chr5_1045384_1117063 | 1070474 | CCCCAGTG others(1302): Show |
C | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0007 | a0001c0007t0006 | a0001c0007t0006g0016 | 1 | 118 | 0.0085 | -1309 | c.224 others(19): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 744984 | CCCGGGGG others(1301): Show |
C | intron_variant | MODIFIER | NA18945.hp2 NA18973.hp1 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0002a0001c0001t0007g0223 | 3 | 366 | 0.0082 | -1308 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| S1PR4_chr19_3173769_3185332 | 3174528 | GCCTGTGC others(1301): Show |
G | upstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02145.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0000a0001c0001t0002g0000 | 6 | 418 | 0.0144 | -1308 | c.-42 others(11): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 4240 | chr19 | TogoVar | ||||||
| REV1_chr2_99395477_99495017 | 99487251 | GCTATGCC others(1300): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(170): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0015a0003c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0048a0001c0001t0001g0110others(167): Show | 173 | 324 | 0.5340 | -1307 | c.-11 others(17): Show |
REV1 | ENSG00000135945.10 | transcript | ENST00000258428.8 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
| RNASE6_chr14_20776268_20787467 | 20785698 | ACGTGAGG others(1300): Show |
A | downstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 466 | 0.0022 | -1307 | c.*35 others(11): Show |
RNASE6 | ENSG00000169413.3 | transcript | ENST00000304677.3 | protein_coding | 3232 | chr14 | TogoVar | ||||||
| SLC36A4_chr11_93139174_93202991 | 93201684 | ATAATGTA others(1300): Show |
A | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01433.hp1 HG01934.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017a0001c0001t0002g0192 | 5 | 372 | 0.0134 | -1307 | c.-51 others(11): Show |
SLC36A4 | ENSG00000180773.15 | transcript | ENST00000326402.9 | protein_coding | 3694 | chr11 | TogoVar | ||||||
| GRTP1_chr13_113319163_113369130 | 113346383 | TGGGAGGA others(1299): Show |
T | intron_variant | MODIFIER | NA18960.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0193 | 1 | 288 | 0.0035 | -1306 | c.466 others(17): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 286935 | GCACCCTC others(1299): Show |
G | intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 | 1 | 133 | 0.0075 | -1306 | c.352 others(17): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
| SCNN1D_chr1_1275436_1297025 | 1288264 | TCTGCTCC others(1299): Show |
T | intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 290 | 0.0035 | -1306 | c.166 others(17): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| TMEM132D_chr12_129066726_129909025 | 129088206 | GGGTGTCC others(1299): Show |
G | intron_variant | MODIFIER | HG01192.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0015 | a0001c0001t0003g0084a0001c0001t0015g0005 | 2 | 94 | 0.0213 | -1306 | c.144 others(19): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 5/8 | chr12 | TogoVar | ||||||
| CROCC2_chr2_240901336_240998311 | 240978266 | TCTCTGGG others(1298): Show |
T | intron_variant | MODIFIER | HG02027.hp1 HG02080.hp2 HG02155.hp2 others(5): Show |
a0001a0007a0009 | a0001c0001a0001c0089a0007c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0089t0001others(2): Show | a0001c0001t0001g0095a0001c0001t0002g0274a0001c0001t0002g0306others(5): Show | 8 | 350 | 0.0229 | -1305 | c.440 others(19): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SLC66A2_chr18_79897420_79956653 | 79920585 | CCGAGGGA others(1298): Show |
C | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0320 | 1 | 352 | 0.0028 | -1305 | c.392 others(17): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | ||||||
| TACC2_chr10_121984163_122259542 | 122122504 | TAATAGCT others(1298): Show |
T | intron_variant | MODIFIER | NA18980.hp2 | a0002 | a0002c0008 | a0002c0008t0003 | a0002c0008t0003g0082 | 1 | 306 | 0.0033 | -1305 | c.557 others(20): Show |
TACC2 | ENSG00000138162.19 | transcript | ENST00000369005.6 | protein_coding | 5/22 | chr10 | TogoVar | ||||||
| MOCOS_chr18_36182497_36277157 | 36252751 | TGGCATTT others(1297): Show |
T | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 358 | 0.0028 | -1304 | c.216 others(19): Show |
MOCOS | ENSG00000075643.6 | transcript | ENST00000261326.6 | protein_coding | 11/14 | chr18 | TogoVar | ||||||
| ZPBP_chr7_49932441_50098246 | 50065174 | TGGATATC others(1297): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG01891.hp2 HG02622.hp2 others(12): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0059a0001c0001t0001g0060a0001c0001t0001g0061others(12): Show | 15 | 278 | 0.0540 | -1304 | c.335 others(17): Show |
ZPBP | ENSG00000042813.8 | transcript | ENST00000046087.7 | protein_coding | 3/7 | chr7 | TogoVar | ||||||
| SUCLG2_chr3_67369719_67659612 | 67521532 | ATTGCAGT others(1296): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG03098.hp2 |
a0001a0003 | a0001c0004a0003c0017 | a0001c0004t0004a0003c0017t0005 | a0001c0004t0004g0259a0003c0017t0005g0262 | 2 | 280 | 0.0071 | -1303 | c.418 others(16): Show |
SUCLG2 | ENSG00000172340.15 | transcript | ENST00000307227.10 | protein_coding | 4/10 | chr3 | TogoVar | ||||||
| ZFYVE1_chr14_72964451_73032106 | 72999154 | TGCGGTGG others(1296): Show |
T | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 374 | 0.0027 | -1303 | c.484 others(16): Show |
ZFYVE1 | ENSG00000165861.14 | transcript | ENST00000556143.6 | protein_coding | 2/11 | chr14 | TogoVar | ||||||
| DDX51_chr12_132131594_132149319 | 132134790 | TCCCGAGT others(1295): Show |
T | downstream_gene_variant | MODIFIER | HG03041.hp1 | a0021 | a0021c0031 | a0021c0031t0040 | a0021c0031t0040g0086 | 1 | 334 | 0.0030 | -1302 | c.*31 others(11): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1803 | chr12 | TogoVar | ||||||
| RIPK1_chr6_3063494_3120187 | 3092882 | CGCACCTA others(1295): Show |
C | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0029 | 1 | 340 | 0.0029 | -1302 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| A4GALT_chr22_42687121_42725870 | 42706295 | TAGTGAGC others(1294): Show |
T | intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0210 | 1 | 406 | 0.0025 | -1301 | c.-18 others(21): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
| DENND1A_chr9_123374658_123935126 | 123404553 | CTCCTGCC others(1294): Show |
C | intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0020 | 1 | 162 | 0.0062 | -1301 | c.154 others(19): Show |
DENND1A | ENSG00000119522.18 | transcript | ENST00000394215.7 | protein_coding | 20/23 | chr9 | TogoVar | ||||||
| CNN2_chr19_1021608_1044065 | 1033655 | AGTGTCTG others(1293): Show |
A | intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0157 | 1 | 390 | 0.0026 | -1300 | c.390 others(16): Show |
CNN2 | ENSG00000064666.15 | transcript | ENST00000263097.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| D2HGDH_chr2_241729630_241773811 | 241765555 | GTTGGGGA others(1293): Show |
G | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0245 | 1 | 412 | 0.0024 | -1300 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| D2HGDH_chr2_241729630_241773811 | 241766055 | CTTGGGGA others(1293): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG02615.hp1 HG03540.hp1 |
a0002 | a0002c0002a0002c0032 | a0002c0002t0003a0002c0002t0015a0002c0032t0015 | a0002c0002t0003g0081a0002c0002t0015g0135a0002c0032t0015g0076 | 3 | 412 | 0.0073 | -1300 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| DHRS12_chr13_51762993_51809163 | 51774565 | TCTCCTAC others(1293): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 2 | 420 | 0.0048 | -1300 | c.363 others(16): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | ||||||
| ERC1_chr12_986223_1500931 | 1085964 | GTTGTTGT others(1293): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00738.hp2 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0007a0001c0001t0011a0001c0001t0040others(18): Show | a0001c0001t0007g0044a0001c0001t0007g0048a0001c0001t0011g0034others(19): Show | 22 | 162 | 0.1358 | -1300 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| SMOC2_chr6_168436184_168672992 | 168560870 | GAGGCTCT others(1293): Show |
G | intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 180 | 0.0056 | -1300 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| TMEM151A_chr11_66286894_66301664 | 66298843 | CCTGGGCG others(1293): Show |
C | downstream_gene_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0002 | 1 | 450 | 0.0022 | -1300 | c.*31 others(11): Show |
TMEM151A | ENSG00000179292.5 | transcript | ENST00000327259.5 | protein_coding | 2180 | chr11 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393449 | AGGCAGGT others(1293): Show |
A | intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0219 | 1 | 346 | 0.0029 | -1300 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| D2HGDH_chr2_241729630_241773811 | 241765995 | GGGGGGAG others(1292): Show |
G | intron_variant | MODIFIER | HG02055.hp2 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0360 | 1 | 412 | 0.0024 | -1299 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| PGD_chr1_10394064_10425511 | 10422423 | CCAAAGTG others(1292): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(142): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0015a0001c0001t0002g0001a0001c0001t0003g0015others(94): Show | 145 | 394 | 0.3680 | -1299 | c.*26 others(11): Show |
PGD | ENSG00000142657.21 | transcript | ENST00000270776.13 | protein_coding | 1913 | chr1 | TogoVar | ||||||
| CNN2_chr19_1021608_1044065 | 1033774 | GACCGGGA others(1291): Show |
G | intron_variant | MODIFIER | HG02965.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0057a0001c0001t0005g0063 | 2 | 390 | 0.0051 | -1298 | c.390 others(17): Show |
CNN2 | ENSG00000064666.15 | transcript | ENST00000263097.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CNN2_chr19_1021608_1044065 | 1033864 | CACGGTGT others(1291): Show |
C | intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0150 | 1 | 390 | 0.0026 | -1298 | c.390 others(16): Show |
CNN2 | ENSG00000064666.15 | transcript | ENST00000263097.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| LHFPL6_chr13_39337892_39608193 | 39360045 | CAGTCTCG others(1291): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(108): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0023a0001c0001t0001g0054a0001c0001t0001g0066others(108): Show | 111 | 242 | 0.4587 | -1298 | c.484 others(19): Show |
LHFPL6 | ENSG00000183722.9 | transcript | ENST00000379589.4 | protein_coding | 3/3 | chr13 | TogoVar | ||||||
| NCAPD3_chr11_134145113_134228967 | 134165590 | AGTGAGAT others(1291): Show |
A | intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0274 | 1 | 370 | 0.0027 | -1298 | c.357 others(19): Show |
NCAPD3 | ENSG00000151503.14 | transcript | ENST00000534548.7 | protein_coding | 27/34 | chr11 | TogoVar | ||||||
| RNF212_chr4_1066478_1118564 | 1095202 | AGAACCAA others(1291): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG01074.hp2 others(51): Show |
a0001a0007 | a0001c0002a0001c0009a0007c0008 | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(6): Show | a0001c0002t0001g0015a0001c0002t0001g0016a0001c0002t0001g0021others(45): Show | 54 | 406 | 0.1330 | -1298 | c.246 others(16): Show |
RNF212 | ENSG00000178222.14 | transcript | ENST00000433731.7 | protein_coding | 3/9 | chr4 | TogoVar | ||||||
| TENM3_chr4_182238402_182808024 | 182649093 | CAAACAGA others(1291): Show |
C | intron_variant | MODIFIER | HG01169.hp2 HG01192.hp2 HG02559.hp2 others(6): Show |
a0001 | a0001c0008a0001c0015a0001c0016others(2): Show | a0001c0008t0001a0001c0015t0001a0001c0016t0001others(2): Show | a0001c0008t0001g0009a0001c0008t0001g0011a0001c0008t0001g0080others(6): Show | 9 | 140 | 0.0643 | -1298 | c.989 others(17): Show |
TENM3 | ENSG00000218336.9 | transcript | ENST00000511685.6 | protein_coding | 5/27 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| UNC13B_chr9_35157009_35410335 | 35372830 | GCCCTGTG others(1291): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00544.hp2 others(30): Show |
a0003 | a0003c0002a0003c0016a0003c0024others(1): Show | a0003c0002t0001a0003c0016t0001a0003c0024t0001others(1): Show | a0003c0002t0001g0014a0003c0002t0001g0021a0003c0002t0001g0023others(30): Show | 33 | 224 | 0.1473 | -1298 | c.954 others(18): Show |
UNC13B | ENSG00000198722.15 | transcript | ENST00000635942.2 | protein_coding | 13/39 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| ERC1_chr12_986223_1500931 | 1089158 | GTTGTTGT others(1290): Show |
G | intron_variant | MODIFIER | HG01081.hp1 | a0002 | a0002c0002 | a0002c0002t0099 | a0002c0002t0099g0131 | 1 | 162 | 0.0062 | -1297 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| FNIP2_chr4_158764026_158913050 | 158878862 | TGTAAGAA others(1290): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00438.hp2 others(32): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0017others(1): Show | a0001c0001t0003a0002c0002t0003a0002c0002t0016others(2): Show | a0001c0001t0003g0184a0002c0002t0003g0025a0002c0002t0003g0104others(32): Show | 35 | 254 | 0.1378 | -1297 | c.294 others(19): Show |
FNIP2 | ENSG00000052795.13 | transcript | ENST00000264433.11 | protein_coding | 14/16 | chr4 | TogoVar | ||||||
| SDHA_chr5_213320_262082 | 260785 | GAGCATTA others(1290): Show |
G | downstream_gene_variant | MODIFIER | HG00735.hp2 NA18965.hp2 NA19081.hp2 |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0020a0002c0003t0004g0102a0002c0003t0004g0103 | 3 | 266 | 0.0113 | -1297 | c.*43 others(11): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 3704 | chr5 | TogoVar | ||||||
| DENND4C_chr9_19225693_19379281 | 19358452 | ACATCACA others(1289): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02818.hp2 |
a0007a0015 | a0007c0011a0015c0021 | a0007c0011t0034a0015c0021t0035 | a0007c0011t0034g0007a0015c0021t0035g0256 | 2 | 292 | 0.0069 | -1296 | c.516 others(17): Show |
DENND4C | ENSG00000137145.21 | transcript | ENST00000434457.7 | protein_coding | 28/32 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| DISC1_chr1_231621790_232046272 | 231844792 | TGGTGGGC others(1289): Show |
T | intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0024 | 1 | 40 | 0.0250 | -1296 | c.198 others(21): Show |
DISC1 | ENSG00000162946.24 | transcript | ENST00000439617.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DOC2B_chr17_137789_186650 | 166925 | CATGGTCT others(1289): Show |
C | intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0211 | 1 | 339 | 0.0030 | -1296 | c.454 others(17): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
| ELAVL1_chr19_7953573_8010641 | 8009345 | CTGGGAAT others(1289): Show |
C | upstream_gene_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 276 | 0.0036 | -1296 | c.-51 others(11): Show |
ELAVL1 | ENSG00000066044.15 | transcript | ENST00000407627.7 | protein_coding | 3705 | chr19 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132303430 | CGGGCACA others(1289): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 183 | 0.0055 | -1296 | c.239 others(19): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar |