| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DOC2B_chr17_137789_186650 | 166733 | CATGGTCT others(905): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01167.hp2 HG01192.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(9): Show | a0001c0001t0001g0010a0001c0001t0001g0026a0001c0001t0001g0231others(16): Show | 21 | 339 | 0.0620 | -912 | c.454 others(17): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
| DOC2B_chr17_137789_186650 | 167467 | CTTCTTGA others(905): Show |
C | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0182 | 1 | 339 | 0.0030 | -912 | c.453 others(17): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241806536 | TCCCCCCT others(905): Show |
T | downstream_gene_variant | MODIFIER | HG01515.hp2 NA19090.hp1 |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0001a0004c0004t0001 | a0003c0003t0001g0036a0004c0004t0001g0116 | 2 | 314 | 0.0064 | -912 | c.*23 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2250 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241806536 | TCCCCCCT others(905): Show |
T | upstream_gene_variant | MODIFIER | HG01515.hp2 NA19090.hp2 |
a0000a0001 | a0000c0011a0001c0002 | a0000c0011t0009a0001c0002t0001 | a0000c0011t0009g0010a0001c0002t0001g0026 | 2 | 319 | 0.0063 | -912 | c.-27 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2656 | chr2 | TogoVar | ||||||
| NSMF_chr9_137442570_137464334 | 137450670 | TTTGATTT others(905): Show |
T | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0138 | 1 | 414 | 0.0024 | -912 | c.123 others(17): Show |
NSMF | ENSG00000165802.23 | transcript | ENST00000371475.9 | protein_coding | 12/15 | chr9 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 746659 | CTCGCCGT others(905): Show |
C | intron_variant | MODIFIER | HG02071.hp1 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0033 | a0001c0001t0003g0054a0001c0001t0033g0067 | 2 | 366 | 0.0055 | -912 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PHTF1_chr1_113691831_113764486 | 113705236 | TCGAGACA others(905): Show |
T | frameshift_variant others(3): Show |
HIGH | NA18906.hp1 | a0003 | a0003c0005 | a0003c0005t0012 | a0003c0005t0012g0017 | 1 | 330 | 0.0030 | -912 | c.141 others(13): Show |
p.Gln others(5): Show |
PHTF1 | ENSG00000116793.16 | transcript | ENST00000369604.6 | protein_coding | 13/19 | 1413/2289 | 471/762 | chr1 | TogoVar | |||
| RPA3_chr7_7631518_7723607 | 7678490 | AATATATA others(905): Show |
A | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 308 | 0.0033 | -912 | c.-75 others(19): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
| TNN_chr1_175062833_175153075 | 175097558 | TGGTGGGG others(905): Show |
T | conservative_inframe_deletion | MODERATE | HG01261.hp1 | a0054 | a0054c0067 | a0054c0067t0001 | a0054c0067t0001g0250 | 1 | 374 | 0.0027 | -912 | c.175 others(9): Show |
p.Thr others(13): Show |
TNN | ENSG00000120332.17 | transcript | ENST00000239462.9 | protein_coding | 9/19 | 1893/5042 | 1755/3900 | 585/1299 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
| VAV2_chr9_133756894_133997324 | 133827226 | TGCCCACT others(905): Show |
T | intron_variant | MODIFIER | HG02895.hp2 NA18522.hp2 |
a0001 | a0001c0012a0001c0016 | a0001c0012t0012a0001c0016t0002 | a0001c0012t0012g0017a0001c0016t0002g0020 | 2 | 200 | 0.0100 | -912 | c.449 others(17): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | ||||||
| CLEC2A_chr12_9908227_9937370 | 9923389 | CACCAGTT others(904): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0063 | 1 | 436 | 0.0023 | -911 | c.139 others(17): Show |
CLEC2A | ENSG00000188393.9 | transcript | ENST00000455827.2 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241806506 | CCTCAGCC others(904): Show |
C | downstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 314 | 0.0032 | -911 | c.*23 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2220 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241806506 | CCTCAGCC others(904): Show |
C | upstream_gene_variant | MODIFIER | HG03688.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0008 | 1 | 319 | 0.0031 | -911 | c.-27 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2686 | chr2 | TogoVar | ||||||
| NRDC_chr1_51784210_51883727 | 51848272 | AAGACCAT others(904): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0099 | 1 | 244 | 0.0041 | -911 | c.342 others(17): Show |
NRDC | ENSG00000078618.23 | transcript | ENST00000352171.12 | protein_coding | 1/30 | chr1 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 744682 | CGAGCAGG others(904): Show |
C | intron_variant | MODIFIER | HG00099.hp2 NA20805.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0019a0002c0002t0003g0021 | 2 | 366 | 0.0055 | -911 | c.462 others(14): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PXDN_chr2_1626887_1749515 | 1702989 | GGGGGGGA others(904): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0292a0001c0001t0002g0293 | 2 | 322 | 0.0062 | -911 | c.201 others(18): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1342275 | TGCTCTGT others(904): Show |
T | intron_variant | MODIFIER | HG02895.hp1 | a0015 | a0015c0036 | a0015c0036t0001 | a0015c0036t0001g0070 | 1 | 190 | 0.0053 | -911 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ASMT_chrX_1610059_1648081 | 1641344 | ACACAGCC others(903): Show |
A | intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0010 | 1 | 223 | 0.0045 | -910 | c.911 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| DPH7_chr9_137549444_137583925 | 137565338 | TGTCTGTG others(903): Show |
T | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 340 | 0.0029 | -910 | c.641 others(16): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| GNAQ_chr9_77711097_78036811 | 77761131 | CGCCCGGC others(903): Show |
C | intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0227 | 1 | 282 | 0.0036 | -910 | c.735 others(19): Show |
GNAQ | ENSG00000156052.11 | transcript | ENST00000286548.9 | protein_coding | 5/6 | chr9 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 745613 | GGGGGTCG others(903): Show |
G | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0328 | 1 | 366 | 0.0027 | -910 | 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 | 745638 | TCCGTGGA others(903): Show |
T | intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0353 | 1 | 366 | 0.0027 | -910 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 746009 | CCCGGGGG others(903): Show |
C | intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0003 | a0001c0003t0029 | a0001c0003t0029g0131 | 1 | 366 | 0.0027 | -910 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| TMEM212_chr3_171838349_171864318 | 171857828 | TCAAAACC others(903): Show |
T | splice_acceptor_variant others(3): Show |
HIGH | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0104 | 1 | 436 | 0.0023 | -910 | c.*4- others(11): Show |
TMEM212 | ENSG00000186329.9 | transcript | ENST00000334567.9 | protein_coding | 5/5 | 1125 | chr3 | TogoVar | |||||
| VPS53_chr17_503668_719839 | 505850 | TGGTTGAG others(903): Show |
T | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02572.hp1 HG03516.hp2 |
a0001 | a0001c0002a0001c0014 | a0001c0002t0049a0001c0002t0078a0001c0014t0135 | a0001c0002t0049g0048a0001c0002t0078g0041a0001c0014t0135g0166 | 3 | 232 | 0.0129 | -910 | c.*12 others(13): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 2817 | chr17 | TogoVar | ||||||
| ASMT_chrX_1610059_1648081 | 1639571 | TCCTGTGA others(902): Show |
T | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0134 | 1 | 223 | 0.0045 | -909 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| GLG1_chr16_74442440_74612114 | 74515506 | ACAACTAC others(902): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02896.hp2 HG02897.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0011a0001c0003t0041a0001c0003t0046others(1): Show | a0001c0003t0011g0284a0001c0003t0011g0285a0001c0003t0011g0286others(3): Show | 6 | 342 | 0.0175 | -909 | c.472 others(17): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 2/25 | chr16 | TogoVar | ||||||
| MYT1_chr20_64159452_64247253 | 64175424 | TCTCCTGT others(902): Show |
T | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0021 | 1 | 223 | 0.0045 | -909 | c.-99 others(19): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| P2RX5_chr17_3668227_3701155 | 3685659 | CCAGCCTG others(902): Show |
C | intron_variant | MODIFIER | HG02027.hp1 HG02523.hp2 NA18947.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0015a0001c0001t0001g0043a0002c0002t0002g0087 | 3 | 362 | 0.0083 | -909 | c.981 others(17): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1345309 | CTTTCCCC others(902): Show |
C | intron_variant | MODIFIER | HG03471.hp1 | a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0003 | 1 | 190 | 0.0053 | -909 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ASMT_chrX_1610059_1648081 | 1640766 | GCACAGCC others(901): Show |
G | intron_variant | MODIFIER | HG01168.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0119 | 1 | 223 | 0.0045 | -908 | c.911 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| EGF_chr4_109907883_110018766 | 109924961 | CCATCAGG others(901): Show |
C | intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0359 | 1 | 388 | 0.0026 | -908 | c.127 others(19): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| LRRC2_chr3_46510385_46571302 | 46564336 | TTACAGAG others(901): Show |
T | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0043 | 1 | 364 | 0.0028 | -908 | c.-20 others(16): Show |
LRRC2 | ENSG00000163827.14 | transcript | ENST00000395905.8 | protein_coding | 1/8 | chr3 | TogoVar | ||||||
| PSPC1_chr13_19697500_19787945 | 19768376 | GGTGGCTC others(901): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG03453.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0122a0001c0001t0001g0123a0001c0001t0001g0124others(4): Show | 7 | 258 | 0.0271 | -908 | c.674 others(17): Show |
PSPC1 | ENSG00000121390.19 | transcript | ENST00000338910.9 | protein_coding | 2/8 | chr13 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1344972 | TCCCCCTG others(901): Show |
T | intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0033 | a0002c0033t0001 | a0002c0033t0001g0119 | 1 | 190 | 0.0053 | -908 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TNKS_chr8_9550912_9787346 | 9721317 | TATAAAAT others(901): Show |
T | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0007 | a0001c0007t0043 | a0001c0007t0043g0076 | 1 | 272 | 0.0037 | -908 | c.192 others(18): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 12/26 | chr8 | TogoVar | ||||||
| ASMT_chrX_1610059_1648081 | 1639517 | ACATGAGG others(900): Show |
A | intron_variant | MODIFIER | HG01934.hp1 HG01978.hp2 HG02273.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0024a0001c0001t0001g0158a0001c0003t0002g0150others(3): Show | 6 | 223 | 0.0269 | -907 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| CACNG7_chr19_53904278_53948950 | 53920204 | CATTGGTG others(900): Show |
C | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0349 | 1 | 364 | 0.0028 | -907 | c.424 others(17): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CACNG7_chr19_53904278_53948950 | 53920310 | CATTGGTG others(900): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01884.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0207a0001c0001t0001g0269a0001c0001t0002g0004others(7): Show | 11 | 364 | 0.0302 | -907 | c.424 others(17): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| ERC1_chr12_986223_1500931 | 1085964 | GTTGTTGT others(900): Show |
G | intron_variant | MODIFIER | HG02717.hp1 HG03195.hp1 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0013t0063 | a0001c0001t0001g0076a0001c0013t0063g0077 | 2 | 162 | 0.0124 | -907 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| FAM107B_chr10_14513557_14779897 | 14605888 | GCTATCTC others(900): Show |
G | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0105 | 1 | 272 | 0.0037 | -907 | c.469 others(19): Show |
FAM107B | ENSG00000065809.14 | transcript | ENST00000181796.7 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
| PRKCZ_chr1_2045411_2190395 | 2121990 | CGGTGGTT others(900): Show |
C | intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0005 | 1 | 286 | 0.0035 | -907 | c.335 others(19): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ABR_chr17_998519_1184981 | 1064579 | CTGCTGTT others(899): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(50): Show |
a0001 | a0001c0001a0001c0003a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0058a0001c0001t0001g0071others(49): Show | 53 | 337 | 0.1573 | -906 | c.118 others(19): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | ||||||
| ASMT_chrX_1610059_1648081 | 1639601 | ATGAGGAT others(899): Show |
A | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 223 | 0.0045 | -906 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | chrX | TogoVar | ||||||
| BANP_chr16_87946434_88082316 | 88000311 | TCCAGACA others(899): Show |
T | intron_variant | MODIFIER | HG02896.hp1 HG03139.hp2 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0313a0002c0003t0003g0314 | 2 | 352 | 0.0057 | -906 | c.363 others(17): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| EGFR_chr7_55014017_55216628 | 55067258 | TGTCGTCT others(899): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp2 HG02809.hp1 others(6): Show |
a0001a0002 | a0001c0003a0001c0004a0001c0010others(4): Show | a0001c0003t0004a0001c0003t0019a0001c0003t0056others(6): Show | a0001c0003t0004g0174a0001c0003t0019g0184a0001c0003t0056g0180others(6): Show | 9 | 250 | 0.0360 | -906 | c.88+ others(17): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| GALNT9_chr12_132191372_132334589 | 132231485 | CGTGGAGC others(899): Show |
C | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0081 | 1 | 183 | 0.0055 | -906 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132231492 | CCCCTACT others(899): Show |
C | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0040 | a0001c0040t0007 | a0001c0040t0007g0002 | 1 | 183 | 0.0055 | -906 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| OXCT1_chr5_41725065_41875425 | 41745699 | AAAAAATG others(899): Show |
A | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0098 | 1 | 200 | 0.0050 | -906 | c.141 others(19): Show |
OXCT1 | ENSG00000083720.13 | transcript | ENST00000196371.10 | protein_coding | 15/16 | chr5 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1343429 | AGCAGCTT others(899): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG01099.hp2 HG01109.hp1 others(16): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0002a0003c0007others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(5): Show | a0001c0001t0001g0058a0001c0001t0001g0062a0001c0001t0001g0173others(16): Show | 19 | 190 | 0.1000 | -906 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |