| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| STK32B_chr4_5046480_5505989 | 5064353 | CATAAATA others(178): Show |
C | intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0004 | a0002c0004t0016 | a0002c0004t0016g0121 | 1 | 170 | 0.0059 | -185 | c.52+ others(17): Show |
STK32B | ENSG00000152953.13 | transcript | ENST00000282908.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| TBC1D22A_chr22_46757650_47180693 | 47162611 | AGGAGTGG others(178): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0014a0001c0001t0004g0021 | 2 | 112 | 0.0179 | -185 | c.142 others(21): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| THEG_chr19_356747_381026 | 376694 | GCCCCACC others(178): Show |
G | upstream_gene_variant | MODIFIER | NA20300.hp2 | a0006 | a0006c0006 | a0006c0006t0015 | a0006c0006t0015g0048 | 1 | 370 | 0.0027 | -185 | c.-90 others(9): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 669 | chr19 | TogoVar | ||||||
| TMC4_chr19_54155108_54178160 | 54172242 | TCCTCCTC others(178): Show |
T | intron_variant | MODIFIER | NA19065.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0011 | 1 | 407 | 0.0025 | -185 | c.80- others(13): Show |
TMC4 | ENSG00000167608.12 | transcript | ENST00000619895.5 | protein_coding | 1/14 | chr19 | TogoVar | ||||||
| TMEM87B_chr2_112050269_112124314 | 112119317 | ATTGATTC others(178): Show |
A | downstream_gene_variant | MODIFIER | HG01081.hp1 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0150 | 1 | 316 | 0.0032 | -185 | c.*31 others(11): Show |
TMEM87B | ENSG00000153214.11 | transcript | ENST00000283206.9 | protein_coding | 4 | chr2 | TogoVar | ||||||
| TWIST2_chr2_238843085_238915534 | 238903863 | NNNNNNNN others(178): Show |
N | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0326 | 1 | 338 | 0.0030 | -185 | c.*36 others(17): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
| TXK_chr4_48061393_48139250 | 48104272 | TAATATAT others(178): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02155.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0002t0001a0001c0007t0001 | a0001c0001t0001g0147a0001c0002t0001g0202a0001c0007t0001g0122others(1): Show | 4 | 362 | 0.0111 | -185 | c.501 others(15): Show |
TXK | ENSG00000074966.11 | transcript | ENST00000264316.9 | protein_coding | 6/14 | chr4 | TogoVar | ||||||
| USP13_chr3_179648040_179794401 | 179680821 | ATGAGTCA others(178): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG00642.hp2 others(54): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0006a0001c0001t0001g0031a0001c0001t0001g0034others(54): Show | 57 | 300 | 0.1900 | -185 | c.169 others(16): Show |
USP13 | ENSG00000058056.10 | transcript | ENST00000263966.8 | protein_coding | 1/20 | chr3 | TogoVar | ||||||
| VAV2_chr9_133756894_133997324 | 133827825 | GTGGGGGC others(178): Show |
G | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0028 | a0001c0028t0005 | a0001c0028t0005g0024 | 1 | 200 | 0.0050 | -185 | c.449 others(17): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | ||||||
| VCX3A_chrX_6528618_6540118 | 6532750 | TTCCTTCT others(178): Show |
T | downstream_gene_variant | MODIFIER | HG06807.hp2 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0022 | 1 | 74 | 0.0135 | -185 | c.*81 others(9): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 867 | chrX | TogoVar | ||||||
| ZBTB46_chr20_63738670_63836264 | 63835967 | GGGCAGGG others(178): Show |
G | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0017 | a0001c0001t0004g0183a0001c0001t0004g0185a0001c0001t0006g0181others(1): Show | 4 | 316 | 0.0127 | -185 | c.-50 others(11): Show |
ZBTB46 | ENSG00000130584.12 | transcript | ENST00000245663.9 | protein_coding | 4704 | chr20 | TogoVar | ||||||
| ZNF787_chr19_56082366_56126295 | 56098528 | ATGCCACC others(178): Show |
A | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0002 | a0002c0016 | a0002c0016t0023a0002c0016t0074 | a0002c0016t0023g0295a0002c0016t0074g0296 | 2 | 410 | 0.0049 | -185 | c.79+ others(15): Show |
ZNF787 | ENSG00000142409.6 | transcript | ENST00000610935.2 | protein_coding | 2/2 | chr19 | TogoVar | ||||||
| ACAP3_chr1_1287391_1312930 | 1288273 | TCCCCCGA others(177): Show |
T | downstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0219 | 1 | 295 | 0.0034 | -184 | c.*51 others(11): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 4117 | chr1 | TogoVar | ||||||
| ADAMTSL3_chr15_83649123_84044842 | 83938038 | ACATTGTA others(177): Show |
A | intron_variant | MODIFIER | HG01346.hp1 HG02486.hp1 HG02809.hp1 others(2): Show |
a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0115a0002c0008t0001g0128a0002c0008t0001g0129others(2): Show | 5 | 274 | 0.0183 | -184 | c.211 others(19): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| ADGRE3_chr19_14614117_14679844 | 14649543 | TCTCCCCA others(177): Show |
T | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0295 | 1 | 372 | 0.0027 | -184 | c.697 others(17): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 7/15 | chr19 | TogoVar | ||||||
| AGMO_chr7_15195317_15567015 | 15354334 | GTATATAC others(177): Show |
G | intron_variant | MODIFIER | HG01255.hp1 HG02280.hp2 HG02622.hp2 others(4): Show |
a0001a0003a0004 | a0001c0001a0003c0006a0003c0009others(1): Show | a0001c0001t0001a0003c0006t0001a0003c0006t0002others(2): Show | a0001c0001t0001g0206a0003c0006t0001g0181a0003c0006t0001g0187others(4): Show | 7 | 236 | 0.0297 | -184 | c.126 others(21): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | ||||||
| AKR1E2_chr10_4821207_4853062 | 4827318 | AAGATGTT others(177): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp2 HG01106.hp2 others(26): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0012a0002c0002t0014 | a0002c0002t0003g0008a0002c0002t0003g0015a0002c0002t0003g0016others(14): Show | 29 | 358 | 0.0810 | -184 | c.39+ others(14): Show |
AKR1E2 | ENSG00000165568.18 | transcript | ENST00000298375.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ANO1_chr11_70073317_70194530 | 70194340 | ATGGATGG others(177): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(100): Show |
a0001a0003a0009others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(12): Show | a0001c0001t0001g0036a0001c0001t0001g0047a0001c0001t0001g0048others(100): Show | 103 | 302 | 0.3411 | -184 | c.*63 others(11): Show |
ANO1 | ENSG00000131620.18 | transcript | ENST00000355303.10 | protein_coding | 4811 | chr11 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144531294 | AAGGGCAC others(177): Show |
A | intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 246 | 0.0041 | -184 | c.298 others(17): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 10/11 | chr8 | TogoVar | ||||||
| B4GALNT3_chr12_454939_568509 | 499483 | CCTAGCCC others(177): Show |
C | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0011 | 1 | 394 | 0.0025 | -184 | c.170 others(19): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| C1orf174_chr1_3884133_3905272 | 3892349 | CGGGTGCT others(177): Show |
C | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0060 | 1 | 440 | 0.0023 | -184 | c.129 others(15): Show |
C1orf174 | ENSG00000198912.12 | transcript | ENST00000361605.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
| C7orf50_chr7_992006_1143247 | 1031466 | GGGGGACC others(177): Show |
G | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0226 | 1 | 326 | 0.0031 | -184 | c.130 others(19): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
| C7orf50_chr7_992006_1143247 | 1127635 | AGGCTGGA others(177): Show |
A | intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0238 | 1 | 326 | 0.0031 | -184 | c.-1- others(13): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
| C7orf50_chr7_992006_1143247 | 1127701 | AATCTCGG others(177): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG02886.hp2 HG02895.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0011others(1): Show | a0001c0001t0002g0318a0001c0001t0005g0308a0001c0001t0011g0309others(4): Show | 7 | 326 | 0.0215 | -184 | c.-1- others(13): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
| C7orf50_chr7_992006_1143247 | 1128117 | GATCTCGG others(177): Show |
G | intron_variant | MODIFIER | NA18945.hp2 NA18990.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072a0001c0001t0001g0073 | 2 | 326 | 0.0061 | -184 | c.-1- others(13): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
| C8orf82_chr8_144520733_144534111 | 144531294 | AAGGGCAC others(177): Show |
A | upstream_gene_variant | MODIFIER | HG03654.hp1 NA19087.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0003a0001c0002t0002g0019 | 2 | 398 | 0.0050 | -184 | c.-25 others(11): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2184 | chr8 | TogoVar | ||||||
| CCDC166_chr8_143701694_143713109 | 143711572 | GGGCCAGC others(177): Show |
G | upstream_gene_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0001 | 1 | 423 | 0.0024 | -184 | c.-36 others(11): Show |
CCDC166 | ENSG00000255181.3 | transcript | ENST00000542437.1 | protein_coding | 3464 | chr8 | TogoVar | ||||||
| CCDC73_chr11_32597721_32799662 | 32755953 | CTATATAT others(177): Show |
C | intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 312 | 0.0032 | -184 | c.135 others(17): Show |
CCDC73 | ENSG00000186714.13 | transcript | ENST00000335185.10 | protein_coding | 2/17 | chr11 | TogoVar | ||||||
| CCDC73_chr11_32597721_32799662 | 32756239 | CTATATAT others(177): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG01256.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196a0001c0001t0001g0205a0001c0001t0001g0206others(4): Show | 7 | 312 | 0.0224 | -184 | c.135 others(17): Show |
CCDC73 | ENSG00000186714.13 | transcript | ENST00000335185.10 | protein_coding | 2/17 | chr11 | TogoVar | ||||||
| CFAP221_chr2_119539449_119661661 | 119552646 | TAGAAATA others(177): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(85): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0006a0004c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0013others(85): Show | 88 | 226 | 0.3894 | -184 | c.240 others(17): Show |
CFAP221 | ENSG00000163075.13 | transcript | ENST00000413369.8 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| COQ8A_chr1_226935294_226992544 | 226978475 | TACCTGCA others(177): Show |
T | intron_variant | MODIFIER | NA18966.hp1 NA18983.hp2 NA19084.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0145a0001c0001t0001g0146 | 4 | 412 | 0.0097 | -184 | c.730 others(16): Show |
COQ8A | ENSG00000163050.18 | transcript | ENST00000366777.4 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CPNE7_chr16_89570758_89602246 | 89570861 | CGGGGACG others(177): Show |
C | upstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 348 | 0.0029 | -184 | c.-50 others(11): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 4896 | chr16 | TogoVar | ||||||
| CPNE7_chr16_89570758_89602246 | 89571007 | GCACGGGA others(177): Show |
G | upstream_gene_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0279 | 1 | 348 | 0.0029 | -184 | c.-48 others(11): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 4750 | chr16 | TogoVar | ||||||
| DCAKD_chr17_45018344_45056632 | 45051709 | CCGGGAGA others(177): Show |
C | upstream_gene_variant | MODIFIER | HG00609.hp1 HG00642.hp2 HG00741.hp2 others(34): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0005a0001c0001t0011a0001c0001t0013others(14): Show | a0001c0001t0005g0011a0001c0001t0011g0174a0001c0001t0013g0009others(32): Show | 37 | 408 | 0.0907 | -184 | c.-64 others(9): Show |
DCAKD | ENSG00000172992.13 | transcript | ENST00000651974.1 | protein_coding | 78 | chr17 | TogoVar | ||||||
| DCAKD_chr17_45018344_45056632 | 45051737 | CCGGGAGA others(177): Show |
C | upstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0002 | a0001c0002t0031 | a0001c0002t0031g0202 | 1 | 408 | 0.0025 | -184 | c.-67 others(9): Show |
DCAKD | ENSG00000172992.13 | transcript | ENST00000651974.1 | protein_coding | 106 | chr17 | TogoVar | ||||||
| DHRSX_chrX_2214506_2505976 | 2280086 | GAGAAAGA others(177): Show |
G | intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 50 | 0.0200 | -184 | c.388 others(19): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1393289 | CCCTCATC others(177): Show |
C | intron_variant | MODIFIER | HG01071.hp1 HG01361.hp2 HG02922.hp2 others(2): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0023a0001c0003t0001a0002c0001t0002others(2): Show | a0001c0002t0023g0005a0001c0003t0001g0025a0002c0001t0002g0032others(2): Show | 5 | 40 | 0.1250 | -184 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1393703 | ACCTCCTT others(177): Show |
A | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0011 | a0001c0011t0015 | a0001c0011t0015g0002 | 1 | 40 | 0.0250 | -184 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1398985 | TGAGTCGT others(177): Show |
T | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0003 | a0001c0003t0017 | a0001c0003t0017g0004 | 1 | 40 | 0.0250 | -184 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1407100 | GTCCTCCG others(177): Show |
G | intron_variant | MODIFIER | HG02895.hp2 | a0002 | a0002c0007 | a0002c0007t0008 | a0002c0007t0008g0040 | 1 | 40 | 0.0250 | -184 | c.107 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DPH7_chr9_137549444_137583925 | 137566633 | CTCTGTCT others(177): Show |
C | intron_variant | MODIFIER | HG02040.hp1 HG02074.hp2 HG02165.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 3 | 340 | 0.0088 | -184 | c.641 others(17): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| DPH7_chr9_137549444_137583925 | 137567785 | CTCTGTCT others(177): Show |
C | intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 340 | 0.0029 | -184 | c.641 others(17): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| ERC1_chr12_986223_1500931 | 1371529 | TGCTGTTG others(177): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02735.hp1 HG03654.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0013a0001c0001t0068a0001c0003t0022others(3): Show | a0001c0001t0013g0015a0001c0001t0068g0083a0001c0003t0022g0114others(3): Show | 6 | 162 | 0.0370 | -184 | c.278 others(16): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| EXOC3_chr5_438176_472290 | 467399 | GGGCGCCC others(177): Show |
G | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01123.hp2 HG01168.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0008a0001c0002t0028 | a0001c0001t0002g0107a0001c0002t0008g0009a0001c0002t0008g0023others(5): Show | 18 | 418 | 0.0431 | -184 | c.*50 others(9): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 110 | chr5 | TogoVar | ||||||
| EXOC3_chr5_438176_472290 | 467491 | GGGTGCCT others(177): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG01069.hp1 NA18943.hp1 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0008a0001c0003t0002g0186a0001c0003t0002g0187others(2): Show | 7 | 418 | 0.0168 | -184 | c.*59 others(9): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 202 | chr5 | TogoVar | ||||||
| EXOC3_chr5_438176_472290 | 467696 | CTGTCTGA others(177): Show |
C | downstream_gene_variant | MODIFIER | HG01361.hp2 HG02055.hp1 HG02258.hp1 others(4): Show |
a0001 | a0001c0003a0001c0014 | a0001c0003t0002a0001c0014t0002 | a0001c0003t0002g0016a0001c0003t0002g0185a0001c0003t0002g0197others(1): Show | 7 | 418 | 0.0168 | -184 | c.*79 others(9): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 407 | chr5 | TogoVar | ||||||
| EXOC3_chr5_438176_472290 | 467816 | TGCCCTCC others(177): Show |
T | downstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107 | 1 | 418 | 0.0024 | -184 | c.*91 others(10): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 527 | chr5 | TogoVar | ||||||
| EXOC3_chr5_438176_472290 | 468020 | GTCTGACA others(177): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG00738.hp1 others(16): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0021 | a0001c0002t0006g0005a0001c0002t0006g0018a0001c0002t0006g0042others(7): Show | 19 | 418 | 0.0455 | -184 | c.*11 others(11): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 731 | chr5 | TogoVar | ||||||
| EXOC3_chr5_438176_472290 | 468148 | ATCCCCTC others(177): Show |
A | downstream_gene_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 418 | 0.0024 | -184 | c.*12 others(11): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 859 | chr5 | TogoVar | ||||||
| FAM161A_chr2_61819848_61859060 | 61848911 | TATATTTA others(177): Show |
T | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0091 | 1 | 400 | 0.0025 | -184 | c.183 others(17): Show |
FAM161A | ENSG00000170264.13 | transcript | ENST00000404929.6 | protein_coding | 1/6 | chr2 | TogoVar |