| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RPH3AL_chr17_207389_357807 | 300171 | ACTCTAGA others(642): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02559.hp1 HG02572.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(1): Show | a0001c0001t0001g0119a0001c0001t0006g0095a0001c0001t0010g0129others(1): Show | 4 | 133 | 0.0301 | -649 | c.351 others(19): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
| TAF4B_chr18_26221445_26396685 | 26247842 | CTCCAGCC others(642): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(262): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(48): Show | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0037others(262): Show | 265 | 274 | 0.9672 | -649 | c.344 others(19): Show |
TAF4B | ENSG00000141384.13 | transcript | ENST00000269142.10 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| ZDHHC11B_chr5_705355_789729 | 710913 | CAATGCTA others(642): Show |
C | 3_prime_UTR_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0070 | a0001c0002t0070g0244 | 1 | 271 | 0.0037 | -649 | c.*72 others(10): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 14/14 | 5246 | chr5 | TogoVar | |||||
| ZMAT4_chr8_40525590_40902826 | 40612215 | ATTCATAT others(642): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp2 HG01106.hp2 others(20): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(7): Show | a0001c0001t0001g0145a0001c0001t0002g0049a0001c0001t0002g0152others(20): Show | 23 | 228 | 0.1009 | -649 | c.578 others(19): Show |
ZMAT4 | ENSG00000165061.15 | transcript | ENST00000297737.11 | protein_coding | 5/6 | chr8 | TogoVar | ||||||
| CT45A5_chrX_135770852_135790503 | 135783868 | ATATACGC others(641): Show |
A | intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 177 | 0.0057 | -648 | c.-7+ others(14): Show |
CT45A5 | ENSG00000228836.9 | transcript | ENST00000698999.1 | protein_coding | 1/4 | chrX | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 991380 | ACCTTGCC others(641): Show |
A | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0009 | a0001c0009t0012 | a0001c0009t0012g0006 | 1 | 40 | 0.0250 | -648 | c.73+ others(17): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1375086 | ACCTCAGA others(641): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01496.hp2 HG02895.hp1 others(2): Show |
a0001a0002a0003 | a0001c0003a0001c0010a0002c0007others(1): Show | a0001c0003t0001a0001c0010t0025a0002c0007t0008others(2): Show | a0001c0003t0001g0027a0001c0010t0025g0012a0002c0007t0008g0040others(2): Show | 5 | 40 | 0.1250 | -648 | c.106 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| GRIN2B_chr12_13532337_13986602 | 13572971 | TCATCATT others(641): Show |
T | intron_variant | MODIFIER | HG01123.hp1 HG01496.hp1 HG02145.hp2 others(10): Show |
a0001 | a0001c0005a0001c0009a0001c0010others(3): Show | a0001c0005t0126a0001c0009t0026a0001c0009t0125others(10): Show | a0001c0005t0126g0013a0001c0009t0026g0145a0001c0009t0125g0175others(10): Show | 13 | 194 | 0.0670 | -648 | c.201 others(19): Show |
GRIN2B | ENSG00000273079.7 | transcript | ENST00000609686.4 | protein_coding | 10/13 | chr12 | TogoVar | ||||||
| OTUD7A_chr15_31470398_31875673 | 31510655 | AACATACA others(641): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG01943.hp1 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0042 | a0001c0001t0005g0111a0001c0001t0006g0124a0001c0001t0042g0140 | 3 | 244 | 0.0123 | -648 | c.894 others(17): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | ||||||
| PCMTD2_chr20_64250748_64281226 | 64270716 | ATAAAATG others(641): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG03209.hp1 HG06807.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0023a0001c0001t0024 | a0001c0001t0014g0095a0001c0001t0014g0096a0001c0001t0023g0038others(1): Show | 4 | 332 | 0.0121 | -648 | c.707 others(17): Show |
PCMTD2 | ENSG00000203880.13 | transcript | ENST00000308824.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| PIBF1_chr13_72777133_73021461 | 72995205 | AGCAGAGA others(641): Show |
A | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0339 | 1 | 346 | 0.0029 | -648 | c.205 others(19): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| RASA3_chr13_113972783_114137623 | 114084887 | CTCCTCGC others(641): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02300.hp2 HG04228.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0008a0001c0001t0001g0028a0001c0001t0001g0035others(2): Show | 5 | 67 | 0.0746 | -648 | c.56- others(17): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114085697 | GTCCTCGC others(641): Show |
G | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 67 | 0.0149 | -648 | c.56- others(17): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
| SMYD3_chr1_245744347_246512279 | 245975301 | CAGGGAAA others(641): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0115 | 1 | 150 | 0.0067 | -648 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
| SMYD3_chr1_245744347_246512279 | 245975901 | CAGGGAAA others(641): Show |
C | intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0070 | 1 | 150 | 0.0067 | -648 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
| TBCD_chr17_82747065_82950914 | 82785206 | AGGGGGTC others(641): Show |
A | intron_variant | MODIFIER | HG01928.hp1 | a0012 | a0012c0020 | a0012c0020t0003 | a0012c0020t0003g0207 | 1 | 318 | 0.0031 | -648 | c.771 others(17): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 7/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| TWIST2_chr2_238843085_238915534 | 238870463 | CACCCGAC others(641): Show |
C | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0231 | 1 | 338 | 0.0030 | -648 | c.*35 others(19): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
| BCHE_chr3_165767904_165842423 | 165795387 | ATAACTGT others(640): Show |
A | intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 304 | 0.0033 | -647 | c.151 others(19): Show |
BCHE | ENSG00000114200.10 | transcript | ENST00000264381.8 | protein_coding | 2/3 | chr3 | TogoVar | ||||||
| KIF26B_chr1_245149985_245714432 | 245618535 | GTGCCACA others(640): Show |
G | intron_variant | MODIFIER | HG02257.hp2 HG03041.hp1 NA18906.hp1 |
a0001 | a0001c0002a0001c0022a0001c0038 | a0001c0002t0078a0001c0022t0055a0001c0038t0006 | a0001c0002t0078g0005a0001c0022t0055g0137a0001c0038t0006g0147 | 3 | 160 | 0.0188 | -647 | c.209 others(19): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| MYT1_chr20_64159452_64247253 | 64175580 | TCTCCTGT others(640): Show |
T | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0057 | 1 | 223 | 0.0045 | -647 | c.-99 others(19): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| PFKP_chr10_3062548_3141802 | 3098025 | AAACACAC others(640): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0222 | 1 | 402 | 0.0025 | -647 | c.187 others(16): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| SCUBE1_chr22_43192280_43348372 | 43280819 | TCCTCCTG others(640): Show |
T | intron_variant | MODIFIER | NA20805.hp1 | a0004 | a0004c0011 | a0004c0011t0006 | a0004c0011t0006g0144 | 1 | 280 | 0.0036 | -647 | c.484 others(18): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | ||||||
| SLC20A2_chr8_42411475_42506231 | 42441416 | TGCTGGGA others(640): Show |
T | intron_variant | MODIFIER | HG02886.hp1 HG03579.hp1 NA18906.hp1 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0002a0001c0004t0004 | a0001c0004t0001g0009a0001c0004t0001g0113a0001c0004t0002g0013others(2): Show | 5 | 238 | 0.0210 | -647 | c.731 others(17): Show |
SLC20A2 | ENSG00000168575.10 | transcript | ENST00000520262.6 | protein_coding | 6/10 | chr8 | TogoVar | ||||||
| ZNF804B_chr7_88754700_89343528 | 89324169 | GTTTAATA others(640): Show |
G | intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0034 | a0002c0034t0001 | a0002c0034t0001g0021 | 1 | 166 | 0.0060 | -647 | c.250 others(17): Show |
ZNF804B | ENSG00000182348.7 | transcript | ENST00000333190.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| DPH7_chr9_137549444_137583925 | 137565720 | ACTCTGTC others(639): Show |
A | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0282 | 1 | 340 | 0.0029 | -646 | c.641 others(16): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| DPH7_chr9_137549444_137583925 | 137565920 | TGGGTGAC others(639): Show |
T | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 340 | 0.0029 | -646 | c.641 others(16): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| KCNIP4_chr4_20723606_21953772 | 21084350 | CATATCTT others(639): Show |
C | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0026 | 1 | 80 | 0.0125 | -646 | c.62- others(19): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
| LUC7L_chr16_183990_234449 | 186034 | AGGAATAC others(639): Show |
A | downstream_gene_variant | MODIFIER | HG02015.hp1 NA18964.hp2 NA18969.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235a0001c0001t0001g0238a0001c0001t0001g0239 | 3 | 350 | 0.0086 | -646 | c.*25 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2955 | chr16 | TogoVar | ||||||
| PRPF6_chr20_63976132_64038100 | 64011928 | TCTTTCTT others(639): Show |
T | intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 294 | 0.0034 | -646 | c.152 others(18): Show |
PRPF6 | ENSG00000101161.8 | transcript | ENST00000266079.5 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| TMEM44_chr3_194582678_194638419 | 194629933 | ACTGCCTC others(639): Show |
A | intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0385 | 1 | 404 | 0.0025 | -646 | c.138 others(17): Show |
TMEM44 | ENSG00000145014.18 | transcript | ENST00000347147.9 | protein_coding | 1/9 | chr3 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1541522 | GGACCCTG others(638): Show |
G | intron_variant | MODIFIER | HG02615.hp1 HG02622.hp1 HG03540.hp1 others(2): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0023a0001c0003t0001a0001c0003t0045others(2): Show | a0001c0001t0023g0023a0001c0003t0001g0052a0001c0003t0045g0057others(2): Show | 5 | 106 | 0.0472 | -645 | c.101 others(21): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
| ASB6_chr9_129629605_129647151 | 129642476 | GCCCTGGG others(638): Show |
G | upstream_gene_variant | MODIFIER | NA19004.hp1 NA19057.hp1 |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0006 | 2 | 422 | 0.0047 | -645 | c.-11 others(10): Show |
ASB6 | ENSG00000148331.12 | transcript | ENST00000277458.5 | protein_coding | 326 | chr9 | TogoVar | ||||||
| DCBLD2_chr3_98790941_98906695 | 98836789 | CCCTCCCG others(638): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00597.hp1 others(30): Show |
a0001a0007a0009 | a0001c0003a0001c0007a0007c0019others(1): Show | a0001c0003t0003a0001c0003t0014a0001c0003t0022others(6): Show | a0001c0003t0003g0005a0001c0003t0003g0281a0001c0003t0003g0285others(29): Show | 33 | 330 | 0.1000 | -645 | c.571 others(19): Show |
DCBLD2 | ENSG00000057019.16 | transcript | ENST00000326840.11 | protein_coding | 3/15 | chr3 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132223362 | CNNNNNNN others(638): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(118): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(26): Show | a0001c0001t0001g0005a0001c0001t0001g0019a0001c0001t0001g0023others(118): Show | 121 | 183 | 0.6612 | -645 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| IDI1_chr10_1034419_1054119 | 1046954 | TCTACACC others(638): Show |
T | intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 438 | 0.0023 | -645 | c.140 others(17): Show |
IDI1 | ENSG00000067064.13 | transcript | ENST00000381344.8 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
| ITSN2_chr2_24197864_24365536 | 24324883 | ACACCTTA others(638): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02647.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030a0001c0001t0001g0105a0001c0001t0001g0107 | 3 | 224 | 0.0134 | -645 | c.31+ others(15): Show |
ITSN2 | ENSG00000198399.16 | transcript | ENST00000355123.9 | protein_coding | 2/39 | chr2 | TogoVar | ||||||
| KIF22_chr16_29785751_29810384 | 29786233 | GATCTCCT others(638): Show |
G | upstream_gene_variant | MODIFIER | HG02630.hp1 HG03486.hp2 |
a0001a0002 | a0001c0011a0002c0003 | a0001c0011t0001a0002c0003t0001 | a0001c0011t0001g0088a0002c0003t0001g0089 | 2 | 206 | 0.0097 | -645 | c.-45 others(11): Show |
KIF22 | ENSG00000079616.14 | transcript | ENST00000160827.9 | protein_coding | 4517 | chr16 | TogoVar | ||||||
| MLLT1_chr19_6205381_6284975 | 6266526 | AGCTCACT others(638): Show |
A | intron_variant | MODIFIER | HG02074.hp2 NA18612.hp1 NA18965.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0043a0001c0002t0001g0045a0001c0002t0001g0196others(1): Show | 4 | 286 | 0.0140 | -645 | c.193 others(17): Show |
MLLT1 | ENSG00000130382.9 | transcript | ENST00000252674.9 | protein_coding | 2/11 | chr19 | TogoVar | ||||||
| OTUD7A_chr15_31470398_31875673 | 31510834 | TACATATG others(638): Show |
T | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0006 | a0001c0006t0018 | a0001c0006t0018g0215 | 1 | 244 | 0.0041 | -645 | c.894 others(17): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | ||||||
| TEX29_chr13_111315642_111349248 | 111340702 | GTGTTTAG others(638): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02895.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0030a0002c0004t0001g0163 | 3 | 416 | 0.0072 | -645 | c.239 others(16): Show |
TEX29 | ENSG00000153495.11 | transcript | ENST00000283547.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| VPS53_chr17_503668_719839 | 594890 | GTCCCCCT others(638): Show |
G | intron_variant | MODIFIER | HG02135.hp2 HG02602.hp1 NA18747.hp1 others(7): Show |
a0001 | a0001c0005 | a0001c0005t0010a0001c0005t0019a0001c0005t0020others(5): Show | a0001c0005t0010g0008a0001c0005t0019g0006a0001c0005t0019g0007others(7): Show | 10 | 232 | 0.0431 | -645 | c.121 others(19): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 12/21 | chr17 | TogoVar | ||||||
| ZG16_chr16_29773256_29787973 | 29786233 | GATCTCCT others(638): Show |
G | downstream_gene_variant | MODIFIER | HG02630.hp1 HG03486.hp1 |
a0002 | a0002c0002 | a0002c0002t0017a0002c0002t0018 | a0002c0002t0017g0005a0002c0002t0018g0005 | 2 | 320 | 0.0063 | -645 | c.*58 others(11): Show |
ZG16 | ENSG00000174992.8 | transcript | ENST00000400752.6 | protein_coding | 3261 | chr16 | TogoVar | ||||||
| ATP10A_chr15_25673712_25868327 | 25757872 | CCACCTGC others(637): Show |
C | intron_variant | MODIFIER | HG01169.hp1 HG01257.hp1 HG01517.hp1 |
a0001a0012 | a0001c0001a0012c0012 | a0001c0001t0001a0012c0012t0001 | a0001c0001t0001g0087a0001c0001t0001g0088a0012c0012t0001g0093 | 3 | 300 | 0.0100 | -644 | c.655 others(19): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
| CNST_chr1_246561456_246673595 | 246619932 | AACACTAC others(637): Show |
A | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0220 | 1 | 320 | 0.0031 | -644 | c.380 others(16): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DCBLD2_chr3_98790941_98906695 | 98836816 | CAGGGGGC others(637): Show |
C | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0311 | 1 | 330 | 0.0030 | -644 | c.571 others(19): Show |
DCBLD2 | ENSG00000057019.16 | transcript | ENST00000326840.11 | protein_coding | 3/15 | chr3 | TogoVar | ||||||
| DPH7_chr9_137549444_137583925 | 137565662 | TCTGTCTG others(637): Show |
T | intron_variant | MODIFIER | NA19000.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076a0001c0001t0001g0217 | 2 | 340 | 0.0059 | -644 | c.641 others(16): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| EXOC3_chr5_438176_472290 | 467742 | ATGTCTGA others(637): Show |
A | downstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 418 | 0.0024 | -644 | c.*84 others(10): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 453 | chr5 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132223362 | CNNNNNNN others(637): Show |
C | intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0121 | 1 | 183 | 0.0055 | -644 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| MYT1_chr20_64159452_64247253 | 64173954 | GTAGTTGT others(637): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG03471.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0006 | a0001c0001t0003g0020a0001c0002t0006g0019 | 2 | 223 | 0.0090 | -644 | c.-99 others(17): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| NUP98_chr11_3670019_3802554 | 3746250 | CAAGAGCA others(637): Show |
C | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 342 | 0.0029 | -644 | c.126 others(19): Show |
NUP98 | ENSG00000110713.18 | transcript | ENST00000324932.12 | protein_coding | 11/32 | chr11 | TogoVar |