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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RASA3_chr13_113972783_114137623 | 114086129 | GTCCTCGC others(317): Show |
G | intron_variant | MODIFIER | HG01981.hp1 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0037a0001c0001t0007g0034 | 2 | 67 | 0.0299 | -324 | c.56- others(17): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 7008644 | TCCTTCCT others(317): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG02630.hp2 HG02976.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0027a0001c0001t0030others(2): Show | a0001c0001t0001g0030a0001c0001t0027g0042a0001c0001t0030g0024others(2): Show | 5 | 68 | 0.0735 | -324 | c.-15 others(19): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RFX4_chr12_106578004_106767803 | 106700381 | TAAGTTTG others(317): Show |
T | intron_variant | MODIFIER | HG02027.hp1 NA19030.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006 | a0001c0002t0001g0001a0001c0002t0006g0148 | 2 | 296 | 0.0068 | -324 | c.833 others(17): Show |
RFX4 | ENSG00000111783.13 | transcript | ENST00000392842.6 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RPH3AL_chr17_207389_357807 | 286933 | TCGCACCC others(317): Show |
T | intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0052 | 1 | 133 | 0.0075 | -324 | c.352 others(17): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80743965 | CCCTGGCT others(317): Show |
C | intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0063 | a0002c0063t0020 | a0002c0063t0020g0001 | 1 | 196 | 0.0051 | -324 | c.655 others(18): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80744551 | TAGCACTG others(317): Show |
T | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0011 | a0001c0011t0024 | a0001c0011t0024g0147 | 1 | 196 | 0.0051 | -324 | c.655 others(17): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SLC12A7_chr5_1045384_1117063 | 1061002 | AGGATCCC others(317): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG01106.hp2 others(29): Show |
a0001a0002a0008 | a0001c0001a0001c0006a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0019others(12): Show | a0001c0001t0001g0032a0001c0001t0001g0038a0001c0001t0001g0039others(29): Show | 32 | 118 | 0.2712 | -324 | c.274 others(17): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 20/23 | chr5 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1072564 | GAGCCCCC others(317): Show |
G | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0096 | 1 | 118 | 0.0085 | -324 | c.224 others(18): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
SLC4A5_chr2_74211242_74348416 | 74220625 | TCCTGCCT others(317): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0103a0001c0001t0011g0162a0001c0001t0011g0190 | 3 | 282 | 0.0106 | -324 | c.*33 others(15): Show |
SLC4A5 | ENSG00000188687.18 | transcript | ENST00000394019.7 | protein_coding | 30/30 | chr2 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82785513 | CACCCATC others(317): Show |
C | intron_variant | MODIFIER | HG02451.hp1 | a0002 | a0002c0007 | a0002c0007t0020 | a0002c0007t0020g0138 | 1 | 318 | 0.0031 | -324 | c.771 others(17): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 7/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
TCEAL8_chrX_103247995_103260155 | 103256993 | ATTTTTCA others(317): Show |
A | upstream_gene_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 333 | 0.0030 | -324 | c.-23 others(11): Show |
TCEAL8 | ENSG00000180964.17 | transcript | ENST00000372685.8 | protein_coding | 1839 | chrX | TogoVar | ||||||
TWSG1_chr18_9329773_9407420 | 9385393 | TAAAAGAA others(317): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(183): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0002g0007others(171): Show | 186 | 354 | 0.5254 | -324 | c.224 others(19): Show |
TWSG1 | ENSG00000128791.12 | transcript | ENST00000262120.10 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
UGT2B7_chr4_69091474_69117987 | 69094123 | TGGTTTCT others(317): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(293): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0003a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0007others(80): Show | 296 | 424 | 0.6981 | -324 | c.-23 others(11): Show |
UGT2B7 | ENSG00000171234.14 | transcript | ENST00000305231.12 | protein_coding | 2350 | chr4 | TogoVar | ||||||
VIPR2_chr7_159023175_159149867 | 159101226 | CGACTGTT others(317): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02717.hp2 NA18522.hp2 |
a0001 | a0001c0004 | a0001c0004t0004a0001c0004t0011 | a0001c0004t0004g0014a0001c0004t0004g0017a0001c0004t0011g0012 | 3 | 336 | 0.0089 | -324 | c.357 others(17): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 4/12 | chr7 | TogoVar | ||||||
WBP1L_chr10_102738948_102821262 | 102768366 | TTTTTGTT others(317): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG02027.hp1 HG02074.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0002c0002t0001others(1): Show | a0001c0001t0002g0276a0001c0001t0002g0315a0001c0001t0002g0317others(7): Show | 10 | 360 | 0.0278 | -324 | c.90+ others(17): Show |
WBP1L | ENSG00000166272.18 | transcript | ENST00000448841.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ZBTB20_chr3_114309500_115152288 | 114747627 | ACAAGATT others(317): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00642.hp1 others(66): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(61): Show | a0001c0001t0001g0037a0001c0001t0001g0050a0001c0001t0001g0056others(66): Show | 69 | 88 | 0.7841 | -324 | c.-34 others(21): Show |
ZBTB20 | ENSG00000181722.18 | transcript | ENST00000675478.1 | protein_coding | 5/11 | chr3 | TogoVar | ||||||
ZNF516_chr18_76352682_76500242 | 76393909 | GGGGAAGG others(317): Show |
G | intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0088 | 1 | 346 | 0.0029 | -324 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
ZNF516_chr18_76352682_76500242 | 76393983 | AGGCAGGT others(317): Show |
A | intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0137 | a0001c0001t0137g0169 | 1 | 346 | 0.0029 | -324 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
ZNF521_chr18_25056924_25357166 | 25312516 | CAGAAGTT others(317): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp1 HG00558.hp2 others(85): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0012others(85): Show | 88 | 216 | 0.4074 | -324 | c.220 others(17): Show |
ZNF521 | ENSG00000198795.11 | transcript | ENST00000361524.8 | protein_coding | 3/7 | chr18 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1289765 | TCCCGTGT others(316): Show |
T | downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 295 | 0.0034 | -323 | c.*34 others(11): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2625 | chr1 | TogoVar | ||||||
ACBD6_chr1_180283230_180507577 | 180323865 | CTTTTTTT others(316): Show |
C | intron_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 334 | 0.0030 | -323 | c.664 others(17): Show |
ACBD6 | ENSG00000230124.8 | transcript | ENST00000367595.4 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133135547 | TGGTGGGG others(316): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00735.hp2 others(45): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0005a0001c0001t0011a0001c0001t0021others(20): Show | a0001c0001t0005g0002a0001c0001t0005g0011a0001c0001t0005g0039others(41): Show | 48 | 368 | 0.1304 | -323 | c.*60 others(11): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 3873 | chr10 | TogoVar | ||||||
ANKRD13C_chr1_70253999_70359722 | 70302428 | TAAAAGAA others(316): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp2 HG00639.hp2 others(91): Show |
a0001a0003a0005 | a0001c0001a0003c0008a0005c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0253a0001c0001t0001g0254a0001c0001t0001g0255others(91): Show | 94 | 352 | 0.2671 | -323 | c.777 others(17): Show |
ANKRD13C | ENSG00000118454.13 | transcript | ENST00000370944.9 | protein_coding | 6/12 | chr1 | TogoVar | ||||||
ARHGAP15_chr2_143124419_143773352 | 143526106 | CGGAGCTG others(316): Show |
C | intron_variant | MODIFIER | HG00642.hp1 NA19043.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0107a0001c0001t0001g0122 | 3 | 162 | 0.0185 | -323 | c.925 others(17): Show |
ARHGAP15 | ENSG00000075884.14 | transcript | ENST00000295095.11 | protein_coding | 10/13 | chr2 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112803982 | CCCTCATT others(316): Show |
C | intron_variant | MODIFIER | HG03688.hp1 HG03704.hp1 HG03942.hp2 |
a0005a0011 | a0005c0018a0011c0041 | a0005c0018t0001a0011c0041t0001 | a0005c0018t0001g0009a0005c0018t0001g0168a0011c0041t0001g0169 | 3 | 254 | 0.0118 | -323 | c.163 others(15): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP8B1_chr18_57641426_57808315 | 57678677 | GATTCCCA others(316): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(218): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0009others(218): Show | 221 | 314 | 0.7038 | -323 | c.163 others(19): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 15/27 | chr18 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57678690 | TGCAGCAG others(316): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG02572.hp1 HG06807.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0203a0001c0001t0004g0019a0001c0001t0004g0113others(1): Show | 4 | 314 | 0.0127 | -323 | c.163 others(19): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 15/27 | chr18 | TogoVar | ||||||
B3GNTL1_chr17_82937149_83056770 | 83003431 | GTCCGCGT others(316): Show |
G | intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0024 | 1 | 266 | 0.0038 | -323 | c.459 others(17): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1116090 | ACAGCTCT others(316): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG01346.hp1 others(4): Show |
a0001a0009 | a0001c0001a0009c0003 | a0001c0001t0003a0001c0001t0011a0009c0003t0011 | a0001c0001t0003g0251a0001c0001t0003g0252a0001c0001t0003g0253others(4): Show | 7 | 326 | 0.0215 | -323 | c.129 others(19): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2106833 | CGTCCTGA others(316): Show |
C | intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0031 | a0001c0031t0002 | a0001c0031t0002g0021 | 1 | 104 | 0.0096 | -323 | c.50- others(15): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNG7_chr19_53904278_53948950 | 53921741 | GCCCCAGG others(316): Show |
G | intron_variant | MODIFIER | HG01175.hp1 HG02083.hp2 HG02129.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0008a0001c0001t0001g0022a0001c0001t0001g0194others(16): Show | 19 | 364 | 0.0522 | -323 | c.424 others(17): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | chr19 | TogoVar | ||||||
CCDC30_chr1_42458286_42662190 | 42542529 | TTAAATTT others(316): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00609.hp2 HG00733.hp2 others(46): Show |
a0002a0004a0006others(1): Show | a0002c0003a0002c0016a0004c0011others(2): Show | a0002c0003t0003a0002c0003t0004a0002c0003t0005others(8): Show | a0002c0003t0003g0011a0002c0003t0003g0012a0002c0003t0003g0013others(46): Show | 49 | 324 | 0.1512 | -323 | c.721 others(17): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CCDC71_chr3_49157535_49171331 | 49160316 | CACAGGGG others(316): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00609.hp1 others(160): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0003a0004c0005others(2): Show | a0001c0001t0001a0003c0003t0002a0004c0005t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(9): Show | 163 | 242 | 0.6736 | -323 | c.*21 others(11): Show |
CCDC71 | ENSG00000177352.10 | transcript | ENST00000321895.7 | protein_coding | 2218 | chr3 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131596324 | TAAAAATT others(316): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01496.hp1 HG01884.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(6): Show | a0001c0001t0001g0010a0001c0001t0001g0027a0001c0001t0001g0041others(22): Show | 25 | 94 | 0.2660 | -323 | c.682 others(17): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 7/15 | chr3 | TogoVar | ||||||
CRK_chr17_1415693_1461232 | 1430256 | CTGGTCTC others(316): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02559.hp1 HG02965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0008a0001c0001t0012g0274a0001c0001t0012g0275 | 4 | 404 | 0.0099 | -323 | c.777 others(17): Show |
CRK | ENSG00000167193.8 | transcript | ENST00000300574.3 | protein_coding | 2/2 | chr17 | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1314579 | CCAACCCC others(316): Show |
C | downstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0124 | 1 | 159 | 0.0063 | -323 | c.*51 others(11): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 4645 | chrX | TogoVar | ||||||
DCC_chr18_52335197_53540899 | 53399607 | CAAAGAAA others(316): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(106): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0003a0001c0005others(20): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(57): Show | a0001c0002t0001g0024a0001c0002t0001g0029a0001c0002t0001g0060others(106): Show | 109 | 114 | 0.9561 | -323 | c.282 others(19): Show |
DCC | ENSG00000187323.13 | transcript | ENST00000442544.7 | protein_coding | 18/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
F7_chr13_113100791_113125685 | 113108070 | GGGAGTGT others(316): Show |
G | intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 400 | 0.0025 | -323 | c.64+ others(15): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
FNDC1_chr6_159164400_159277108 | 159245729 | AGTCATTA others(316): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(216): Show |
a0001a0002a0003others(26): Show | a0001c0005a0001c0006a0001c0010others(53): Show | a0001c0005t0001a0001c0005t0006a0001c0006t0001others(57): Show | a0001c0005t0001g0019a0001c0005t0001g0045a0001c0005t0001g0046others(215): Show | 219 | 306 | 0.7157 | -323 | c.462 others(18): Show |
FNDC1 | ENSG00000164694.17 | transcript | ENST00000297267.14 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GGCT_chr7_30491621_30509829 | 30495983 | TTTTTTTT others(316): Show |
T | downstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0091 | 1 | 444 | 0.0023 | -323 | c.*78 others(10): Show |
GGCT | ENSG00000006625.18 | transcript | ENST00000275428.9 | protein_coding | 637 | chr7 | TogoVar | ||||||
HKDC1_chr10_69215332_69272552 | 69238352 | ATACACCA others(316): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(248): Show |
a0001a0002a0003others(14): Show | a0001c0003a0001c0005a0001c0006others(24): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(35): Show | a0001c0003t0001g0009a0001c0003t0001g0053a0001c0003t0001g0067others(235): Show | 251 | 380 | 0.6605 | -323 | c.496 others(15): Show |
HKDC1 | ENSG00000156510.13 | transcript | ENST00000354624.6 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
HLA-DRB1_chr6_32573775_32594848 | 32579809 | GAAACCTC others(316): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG01109.hp1 HG01175.hp2 others(13): Show |
a0009a0010a0026 | a0009c0009a0009c0028a0010c0011others(1): Show | a0009c0009t0007a0009c0028t0007a0010c0011t0007others(1): Show | a0009c0009t0007g0003a0009c0028t0007g0091a0010c0011t0007g0012others(2): Show | 16 | 208 | 0.0769 | -323 | c.787 others(15): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 5/5 | chr6 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46099028 | TAACAAAT others(316): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01074.hp2 others(19): Show |
a0003 | a0003c0004 | a0003c0004t0005a0003c0004t0024a0003c0004t0025 | a0003c0004t0005g0301a0003c0004t0005g0302a0003c0004t0005g0303others(19): Show | 22 | 321 | 0.0685 | -323 | c.129 others(19): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | ||||||
KCNH1_chr1_210673314_211139148 | 210788672 | TTATAGCT others(316): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG03491.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0027 | a0001c0001t0002g0141a0001c0006t0027g0079 | 2 | 164 | 0.0122 | -323 | c.191 others(19): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 9/10 | chr1 | TogoVar | ||||||
KIAA1549L_chr11_33371108_33679102 | 33516126 | GCTGGAGG others(316): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00558.hp2 others(168): Show |
a0001a0003a0004others(17): Show | a0001c0002a0001c0003a0001c0004others(76): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(130): Show | a0001c0002t0001g0026a0001c0002t0001g0033a0001c0002t0001g0036others(168): Show | 171 | 226 | 0.7566 | -323 | c.239 others(19): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
LHFPL2_chr5_78480230_78653772 | 78584981 | TCCTGGTG others(316): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(90): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(16): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0010others(90): Show | 93 | 254 | 0.3661 | -323 | c.-24 others(21): Show |
LHFPL2 | ENSG00000145685.14 | transcript | ENST00000380345.7 | protein_coding | 2/4 | chr5 | TogoVar | ||||||
LUC7L_chr16_183990_234449 | 186034 | AGGAATAC others(316): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00639.hp1 HG03834.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216a0001c0001t0001g0220a0001c0001t0001g0227others(2): Show | 5 | 350 | 0.0143 | -323 | c.*28 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2955 | chr16 | TogoVar | ||||||
MCF2L_chr13_112964214_113104742 | 113025632 | ATTGTGGG others(316): Show |
A | intron_variant | MODIFIER | NA18946.hp1 NA19085.hp1 |
a0001a0004 | a0001c0003a0004c0011 | a0001c0003t0001a0004c0011t0002 | a0001c0003t0001g0086a0004c0011t0002g0090 | 2 | 116 | 0.0172 | -323 | c.278 others(16): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 3/29 | chr13 | TogoVar | ||||||
MELK_chr9_36567895_36682682 | 36588119 | CGATCTCG others(316): Show |
C | intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0131 | 1 | 242 | 0.0041 | -323 | c.145 others(17): Show |
MELK | ENSG00000165304.8 | transcript | ENST00000298048.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MELK_chr9_36567895_36682682 | 36588200 | ACATGCGC others(316): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG02559.hp1 HG02559.hp2 others(12): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0001a0003c0005t0004 | a0001c0002t0001g0137a0001c0002t0001g0207a0001c0002t0001g0208others(12): Show | 15 | 242 | 0.0620 | -323 | c.145 others(17): Show |
MELK | ENSG00000165304.8 | transcript | ENST00000298048.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |