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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ERC1_chr12_986223_1500931 | 1085014 | GTTGTTGT others(330): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG01261.hp1 HG02145.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0130a0001c0001t0132a0001c0001t0133others(3): Show | a0001c0001t0130g0102a0001c0001t0132g0103a0001c0001t0133g0094others(3): Show | 6 | 162 | 0.0370 | -337 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GATA4_chr8_11699202_11765002 | 11739420 | AGTTTTAT others(330): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG02698.hp1 others(10): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0005a0004c0008others(1): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0043others(4): Show | a0001c0001t0005g0145a0001c0001t0007g0084a0001c0001t0007g0086others(9): Show | 13 | 340 | 0.0382 | -337 | c.617 others(17): Show |
GATA4 | ENSG00000136574.19 | transcript | ENST00000532059.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
KIAA0825_chr5_94145851_94623604 | 94580578 | TAAAAAAT others(330): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00741.hp2 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0007others(10): Show | a0001c0001t0006a0001c0001t0007a0001c0001t0016others(26): Show | a0001c0001t0006g0050a0001c0001t0007g0023a0001c0001t0016g0051others(26): Show | 29 | 54 | 0.5370 | -337 | c.-2+ others(15): Show |
KIAA0825 | ENSG00000185261.16 | transcript | ENST00000682413.1 | protein_coding | 2/20 | chr5 | TogoVar | ||||||
KLHDC4_chr16_87702812_87770986 | 87726200 | CCCGCGCC others(330): Show |
C | intron_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0100 | 1 | 380 | 0.0026 | -337 | c.759 others(15): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 7/11 | chr16 | TogoVar | ||||||
LCN15_chr9_136754634_136769518 | 136769181 | GCCCCCCC others(330): Show |
G | upstream_gene_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 356 | 0.0028 | -337 | c.-50 others(11): Show |
LCN15 | ENSG00000177984.7 | transcript | ENST00000316144.6 | protein_coding | 4664 | chr9 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19108379 | TGTTTTTT others(330): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00642.hp2 others(98): Show |
a0001a0002a0003others(71): Show | a0001c0001a0001c0003a0001c0076others(84): Show | a0001c0001t0001a0001c0003t0001a0001c0076t0002others(87): Show | a0001c0001t0001g0005a0001c0001t0001g0009a0001c0001t0001g0054others(98): Show | 101 | 152 | 0.6645 | -337 | c.694 others(17): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 5/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
NOL4_chr18_33846100_34229913 | 34166741 | TAATAGTA others(330): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(76): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0015others(76): Show | 79 | 168 | 0.4702 | -337 | c.265 others(19): Show |
NOL4 | ENSG00000101746.16 | transcript | ENST00000261592.10 | protein_coding | 1/10 | chr18 | TogoVar | ||||||
PRLR_chr5_35050702_35235487 | 35191032 | ACAGATGT others(330): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG01074.hp1 HG01074.hp2 others(44): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0035a0001c0001t0001g0038a0001c0001t0001g0065others(43): Show | 47 | 214 | 0.2196 | -337 | c.-10 others(21): Show |
PRLR | ENSG00000113494.17 | transcript | ENST00000618457.5 | protein_coding | 1/9 | chr5 | TogoVar | ||||||
PXDN_chr2_1626887_1749515 | 1704031 | AGGGGGGC others(330): Show |
A | intron_variant | MODIFIER | HG02451.hp1 NA18522.hp1 NA19030.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0001t0010a0001c0004t0004 | a0001c0001t0004g0302a0001c0001t0010g0208a0001c0004t0004g0209 | 3 | 322 | 0.0093 | -337 | c.201 others(19): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
SLC2A14_chr12_7807514_7877915 | 7816066 | AATTTCTT others(330): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(185): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0004others(10): Show | a0001c0002t0003a0001c0003t0001a0001c0003t0010others(18): Show | a0001c0002t0003g0020a0001c0002t0003g0021a0001c0002t0003g0022others(185): Show | 188 | 350 | 0.5371 | -337 | c.127 others(19): Show |
SLC2A14 | ENSG00000173262.12 | transcript | ENST00000431042.7 | protein_coding | 10/10 | chr12 | TogoVar | ||||||
ST8SIA5_chr18_46662821_46762053 | 46758454 | TCACAGGT others(330): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00438.hp2 others(236): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(93): Show | a0001c0001t0001g0006a0001c0001t0001g0020a0001c0001t0001g0024others(236): Show | 239 | 362 | 0.6602 | -337 | c.-22 others(11): Show |
ST8SIA5 | ENSG00000101638.14 | transcript | ENST00000315087.12 | protein_coding | 1402 | chr18 | TogoVar | ||||||
STK38L_chr12_27239286_27330959 | 27241225 | ATATATAT others(330): Show |
A | upstream_gene_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0325 | 1 | 374 | 0.0027 | -337 | c.-31 others(11): Show |
STK38L | ENSG00000211455.8 | transcript | ENST00000389032.8 | protein_coding | 3060 | chr12 | TogoVar | ||||||
TCF7L1_chr2_85128392_85315387 | 85291982 | TGGTCATA others(330): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00597.hp1 others(207): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0016a0002c0002others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(26): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0031others(207): Show | 210 | 236 | 0.8898 | -337 | c.525 others(17): Show |
TCF7L1 | ENSG00000152284.5 | transcript | ENST00000282111.4 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TPPP_chr5_654862_698352 | 667774 | AGACAAGC others(330): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0068 | 1 | 409 | 0.0024 | -337 | c.312 others(17): Show |
TPPP | ENSG00000171368.12 | transcript | ENST00000360578.7 | protein_coding | 2/3 | chr5 | TogoVar | ||||||
TPPP_chr5_654862_698352 | 667918 | CGACAAGC others(330): Show |
C | intron_variant | MODIFIER | HG02970.hp2 HG02976.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0055a0001c0001t0006g0056a0001c0001t0006g0058others(1): Show | 4 | 409 | 0.0098 | -337 | c.312 others(17): Show |
TPPP | ENSG00000171368.12 | transcript | ENST00000360578.7 | protein_coding | 2/3 | chr5 | TogoVar | ||||||
TPPP_chr5_654862_698352 | 667939 | GCCGTGTG others(330): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG03041.hp2 NA18906.hp1 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0002a0001c0006t0018 | a0001c0006t0002g0331a0001c0006t0018g0031a0001c0006t0018g0333 | 4 | 409 | 0.0098 | -337 | c.312 others(17): Show |
TPPP | ENSG00000171368.12 | transcript | ENST00000360578.7 | protein_coding | 2/3 | chr5 | TogoVar | ||||||
TPPP_chr5_654862_698352 | 667966 | GGACAAGC others(330): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00438.hp1 others(89): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(24): Show | a0001c0001t0002g0012a0001c0001t0002g0097a0001c0001t0002g0274others(81): Show | 92 | 409 | 0.2249 | -337 | c.312 others(17): Show |
TPPP | ENSG00000171368.12 | transcript | ENST00000360578.7 | protein_coding | 2/3 | chr5 | TogoVar | ||||||
VWA8_chr13_41561835_41966109 | 41580964 | GGAGAGTG others(330): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00438.hp1 others(124): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0004a0001c0018others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(32): Show | a0001c0001t0001g0010a0001c0001t0001g0024a0001c0001t0001g0027others(124): Show | 127 | 250 | 0.5080 | -337 | c.527 others(19): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 42/44 | chr13 | TogoVar | ||||||
ZSCAN9_chr6_28220275_28238487 | 28222417 | TTATTATC others(330): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(287): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(63): Show | 290 | 416 | 0.6971 | -337 | c.-30 others(11): Show |
ZSCAN9 | ENSG00000137185.13 | transcript | ENST00000252207.10 | protein_coding | 2857 | chr6 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88116516 | AAAAAAAT others(329): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(340): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(27): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0015others(334): Show | 343 | 350 | 0.9800 | -336 | c.841 others(17): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1288869 | CCGTGTCT others(329): Show |
C | downstream_gene_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0095 | 1 | 295 | 0.0034 | -336 | c.*43 others(11): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3521 | chr1 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1237064 | GCCTCCGG others(329): Show |
G | intron_variant | MODIFIER | HG01433.hp1 HG02683.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0010 | a0001c0001t0009g0055a0001c0001t0010g0025 | 2 | 106 | 0.0189 | -336 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1239532 | GCCTCCCG others(329): Show |
G | intron_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0002 | a0002c0002t0046 | a0002c0002t0046g0056 | 1 | 106 | 0.0094 | -336 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1239652 | CCCTCCCG others(329): Show |
C | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0046 | 1 | 106 | 0.0094 | -336 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1700989 | GGGAGACC others(329): Show |
G | intron_variant | MODIFIER | HG02257.hp1 | a0010 | a0010c0009 | a0010c0009t0024 | a0010c0009t0024g0016 | 1 | 106 | 0.0094 | -336 | c.100 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111429 | GGACACCT others(329): Show |
G | intron_variant | MODIFIER | HG03130.hp2 HG03516.hp1 HG03669.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003a0001c0024 | a0001c0002t0001a0001c0002t0068a0001c0003t0035others(1): Show | a0001c0002t0001g0005a0001c0002t0068g0061a0001c0003t0035g0073others(1): Show | 5 | 368 | 0.0136 | -336 | c.401 others(17): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133111450 | ACCAGACA others(329): Show |
A | intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0124 | 1 | 368 | 0.0027 | -336 | c.401 others(17): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133111598 | GACACCTC others(329): Show |
G | intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 2 | 368 | 0.0054 | -336 | c.401 others(17): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111618 | ACCAGACA others(329): Show |
A | intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0205 | 1 | 368 | 0.0027 | -336 | c.401 others(17): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133111639 | GGACACCT others(329): Show |
G | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0054 | 1 | 368 | 0.0027 | -336 | c.401 others(17): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133111660 | ACCAGACA others(329): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG03540.hp1 NA19012.hp2 |
a0001a0005 | a0001c0001a0005c0021 | a0001c0001t0005a0001c0001t0045a0005c0021t0001 | a0001c0001t0005g0351a0001c0001t0045g0206a0005c0021t0001g0259 | 3 | 368 | 0.0082 | -336 | c.401 others(17): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADPRHL1_chr13_113394611_113458488 | 113436327 | CGTAGAGT others(329): Show |
C | intron_variant | MODIFIER | HG03225.hp2 | a0004 | a0004c0005 | a0004c0005t0099 | a0004c0005t0099g0085 | 1 | 262 | 0.0038 | -336 | c.380 others(17): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 2/7 | chr13 | TogoVar | ||||||
ANKRD33B_chr5_10559070_10662816 | 10574847 | AAGCGGGA others(329): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(245): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(26): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(76): Show | a0001c0001t0001g0027a0001c0001t0001g0044a0001c0001t0001g0060others(245): Show | 248 | 324 | 0.7654 | -336 | c.366 others(19): Show |
ANKRD33B | ENSG00000164236.12 | transcript | ENST00000296657.7 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9406031 | GTGTCACT others(329): Show |
G | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG02486.hp1 others(5): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0004t0005 | a0001c0003t0001g0210a0001c0004t0005g0034a0001c0004t0005g0176others(5): Show | 8 | 210 | 0.0381 | -336 | c.*27 others(11): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 354 | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9406116 | CGTCTTCC others(329): Show |
C | downstream_gene_variant | MODIFIER | HG01070.hp1 HG01109.hp1 HG01884.hp1 others(9): Show |
a0001 | a0001c0006a0001c0007 | a0001c0006t0004a0001c0007t0004 | a0001c0006t0004g0014a0001c0006t0004g0018a0001c0006t0004g0032others(9): Show | 12 | 210 | 0.0571 | -336 | c.*27 others(11): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 439 | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9406172 | AGTCTTCC others(329): Show |
A | downstream_gene_variant | MODIFIER | HG01934.hp2 HG03486.hp2 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0004t0005 | a0001c0003t0001g0039a0001c0004t0005g0028 | 2 | 210 | 0.0095 | -336 | c.*28 others(11): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 495 | chr2 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9406225 | TCTCGTCT others(329): Show |
T | downstream_gene_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0003 | 1 | 210 | 0.0048 | -336 | c.*28 others(11): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 548 | chr2 | TogoVar | ||||||
ATP12A_chr13_24675408_24717472 | 24696421 | GGGGGGCC others(329): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(155): Show |
a0001a0002a0007others(2): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(19): Show | a0001c0001t0001g0075a0001c0002t0001g0001a0001c0002t0001g0002others(123): Show | 158 | 382 | 0.4136 | -336 | c.151 others(19): Show |
ATP12A | ENSG00000075673.12 | transcript | ENST00000381946.5 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CAPZA3_chr12_18733119_18744188 | 18741100 | TTTACTGC others(329): Show |
T | downstream_gene_variant | MODIFIER | HG03471.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 2 | 392 | 0.0051 | -336 | c.*19 others(11): Show |
CAPZA3 | ENSG00000177938.5 | transcript | ENST00000317658.5 | protein_coding | 1913 | chr12 | TogoVar | ||||||
CDC123_chr10_12191188_12255589 | 12247176 | CACCTCCC others(329): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02280.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0010 | a0001c0001t0001g0024a0001c0001t0001g0139a0001c0001t0001g0140others(4): Show | 7 | 392 | 0.0179 | -336 | c.846 others(16): Show |
CDC123 | ENSG00000151465.14 | transcript | ENST00000281141.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29252559 | GTCTAAAA others(329): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG01081.hp1 HG01109.hp2 others(36): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(21): Show | a0001c0001t0001g0103a0001c0001t0001g0126a0001c0001t0001g0130others(36): Show | 39 | 232 | 0.1681 | -336 | c.49+ others(17): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134849354 | CGATATCA others(329): Show |
C | downstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0005 | a0001c0005t0045 | a0001c0005t0045g0267 | 1 | 272 | 0.0037 | -336 | c.*70 others(11): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 4512 | chr9 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587759 | GCGTGTCA others(329): Show |
G | intron_variant | MODIFIER | HG02976.hp2 NA19240.hp2 |
a0001 | a0001c0002a0001c0028 | a0001c0002t0005a0001c0028t0001 | a0001c0002t0005g0289a0001c0028t0001g0164 | 2 | 348 | 0.0058 | -336 | c.927 others(15): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CTDP1_chr18_79674803_79759503 | 79745318 | TGCGTCCC others(329): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00423.hp1 others(63): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0014others(4): Show | a0001c0001t0002a0001c0003t0001a0001c0014t0001others(4): Show | a0001c0001t0002g0001a0001c0001t0002g0016a0001c0001t0002g0017others(62): Show | 66 | 378 | 0.1746 | -336 | c.274 others(19): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTDP1_chr18_79674803_79759503 | 79745399 | CCCCGCGT others(329): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02145.hp2 others(7): Show |
a0001a0002 | a0001c0037a0002c0006 | a0001c0037t0001a0002c0006t0001 | a0001c0037t0001g0079a0002c0006t0001g0218a0002c0006t0001g0227others(7): Show | 10 | 378 | 0.0265 | -336 | c.274 others(19): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTDP1_chr18_79674803_79759503 | 79745902 | TCCCCGCG others(329): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG02258.hp1 HG02723.hp2 |
a0001a0005 | a0001c0001a0005c0015 | a0001c0001t0007a0005c0015t0005 | a0001c0001t0007g0342a0001c0001t0007g0343a0005c0015t0005g0366 | 3 | 378 | 0.0079 | -336 | c.274 others(19): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTDP1_chr18_79674803_79759503 | 79752262 | CTAAGGAA others(329): Show |
C | intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0242 | 1 | 378 | 0.0027 | -336 | c.274 others(19): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTDP1_chr18_79674803_79759503 | 79752346 | CTAAGGAA others(329): Show |
C | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0201 | 1 | 378 | 0.0027 | -336 | c.274 others(18): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DGKB_chr7_14140049_14907751 | 14212092 | TTACTCTC others(329): Show |
T | intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0033 | 1 | 148 | 0.0068 | -336 | c.212 others(21): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | ||||||
DGKG_chr3_186142201_186367234 | 186311820 | TAAGAACA others(329): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01074.hp2 HG01256.hp2 others(31): Show |
a0001a0002a0004others(2): Show | a0001c0002a0001c0003a0001c0009others(7): Show | a0001c0002t0003a0001c0002t0009a0001c0002t0010others(24): Show | a0001c0002t0003g0195a0001c0002t0003g0200a0001c0002t0003g0201others(31): Show | 34 | 234 | 0.1453 | -336 | c.68- others(15): Show |
DGKG | ENSG00000058866.15 | transcript | ENST00000265022.8 | protein_coding | 2/24 | chr3 | TogoVar |