| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ZNF516_chr18_76352682_76500242 | 76393453 | AGGTGGTC others(131): Show |
A | intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0205 | 1 | 346 | 0.0029 | -138 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393522 | AGGTGGTC others(131): Show |
A | intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0341 | 1 | 346 | 0.0029 | -138 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76394468 | CGGGAAGG others(131): Show |
C | intron_variant | MODIFIER | HG01515.hp1 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0169 | a0001c0001t0001g0148a0001c0001t0169g0195 | 2 | 346 | 0.0058 | -138 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76394519 | GGGCAGGT others(131): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG01167.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017a0001c0001t0041others(1): Show | a0001c0001t0001g0090a0001c0001t0001g0296a0001c0001t0017g0171others(2): Show | 5 | 346 | 0.0145 | -138 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ZNF573_chr19_37733302_37784586 | 37751489 | TATAGACA others(131): Show |
T | intron_variant | MODIFIER | HG03453.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0314 | 1 | 350 | 0.0029 | -138 | c.296 others(19): Show |
ZNF573 | ENSG00000189144.15 | transcript | ENST00000536220.7 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
| ZNF573_chr19_37733302_37784586 | 37751522 | TATAGACA others(131): Show |
T | intron_variant | MODIFIER | HG01255.hp2 HG03688.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0308a0003c0003t0001g0309 | 2 | 350 | 0.0057 | -138 | c.296 others(19): Show |
ZNF573 | ENSG00000189144.15 | transcript | ENST00000536220.7 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
| ZNF717_chr3_75730868_75790549 | 75778701 | CTAAAACC others(131): Show |
C | intron_variant | MODIFIER | HG01099.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0104 | 1 | 360 | 0.0028 | -138 | c.57+ others(15): Show |
ZNF717 | ENSG00000227124.11 | transcript | ENST00000652011.2 | protein_coding | 2/4 | chr3 | TogoVar | ||||||
| ZNF804B_chr7_88754700_89343528 | 89219980 | CATATGTG others(131): Show |
C | intron_variant | MODIFIER | HG02922.hp2 HG02970.hp1 |
a0011 | a0011c0013 | a0011c0013t0001 | a0011c0013t0001g0122a0011c0013t0001g0123 | 2 | 166 | 0.0121 | -138 | c.249 others(17): Show |
ZNF804B | ENSG00000182348.7 | transcript | ENST00000333190.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| ACSF3_chr16_89088852_89161233 | 89121990 | CCCCGCAG others(130): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(218): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0014others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(43): Show | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0084others(215): Show | 221 | 368 | 0.6005 | -137 | c.123 others(19): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ACSF3_chr16_89088852_89161233 | 89122127 | ACCCGCAG others(130): Show |
A | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0328 | 1 | 368 | 0.0027 | -137 | c.123 others(19): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ACSM2A_chr16_20446521_20492669 | 20485069 | TGTTACCC others(130): Show |
T | intron_variant | MODIFIER | HG01928.hp2 | a0017 | a0017c0030 | a0017c0030t0031 | a0017c0030t0031g0122 | 1 | 436 | 0.0023 | -137 | c.163 others(19): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ACYP2_chr2_53966113_54310300 | 54297189 | GCCTAAGA others(130): Show |
G | intron_variant | MODIFIER | HG01255.hp1 HG01346.hp1 HG02559.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(1): Show | a0001c0001t0001g0233a0001c0001t0001g0263a0001c0002t0001g0098others(7): Show | 10 | 272 | 0.0368 | -137 | c.405 others(17): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ADAMTS2_chr5_179105853_179350461 | 179277721 | CCCCCCGA others(130): Show |
C | intron_variant | MODIFIER | NA18946.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0267 | 1 | 276 | 0.0036 | -137 | c.535 others(17): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1238066 | CCCTGCAT others(130): Show |
C | intron_variant | MODIFIER | HG00438.hp1 | a0002 | a0002c0016 | a0002c0016t0006 | a0002c0016t0006g0010 | 1 | 106 | 0.0094 | -137 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1542529 | TCACAGCC others(130): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG02257.hp2 HG02622.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0029a0001c0001t0052others(3): Show | a0001c0001t0001g0045a0001c0001t0029g0031a0001c0001t0052g0062others(3): Show | 6 | 106 | 0.0566 | -137 | c.101 others(21): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
| ADSS1_chr14_104719229_104752310 | 104720409 | CCTCGTGT others(130): Show |
C | upstream_gene_variant | MODIFIER | HG03834.hp2 HG04184.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002a0001c0002t0001g0039 | 2 | 402 | 0.0050 | -137 | c.-38 others(11): Show |
ADSS1 | ENSG00000185100.12 | transcript | ENST00000330877.7 | protein_coding | 3819 | chr14 | TogoVar | ||||||
| AHDC1_chr1_27529245_27609144 | 27608849 | TGTGTGTG others(130): Show |
T | upstream_gene_variant | MODIFIER | HG01981.hp1 HG02071.hp2 HG03041.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0001a0001c0002t0010 | a0001c0001t0004g0116a0001c0002t0001g0044a0001c0002t0001g0052others(3): Show | 6 | 180 | 0.0333 | -137 | c.-57 others(11): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 4706 | chr1 | TogoVar | ||||||
| AKAP9_chr7_91935862_92115673 | 91948800 | GATGGGGT others(130): Show |
G | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 306 | 0.0033 | -137 | c.48+ others(15): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 1/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| BTBD9_chr6_38163451_38644929 | 38530502 | TGGCCCAA others(130): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01071.hp1 HG01256.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(14): Show | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0008g0213others(15): Show | 18 | 224 | 0.0804 | -137 | c.115 others(21): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | ||||||
| C12orf56_chr12_64259762_64395758 | 64366181 | ATATTATG others(130): Show |
A | intron_variant | MODIFIER | HG03579.hp1 | a0003 | a0003c0012 | a0003c0012t0002 | a0003c0012t0002g0123 | 1 | 312 | 0.0032 | -137 | c.253 others(19): Show |
C12orf56 | ENSG00000185306.13 | transcript | ENST00000543942.7 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
| C1orf174_chr1_3884133_3905272 | 3892434 | GGGTGGGC others(130): Show |
G | intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0101 | 1 | 440 | 0.0023 | -137 | c.129 others(15): Show |
C1orf174 | ENSG00000198912.12 | transcript | ENST00000361605.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
| C1orf21_chr1_184382029_184634019 | 184534991 | GGTGGGGG others(130): Show |
G | intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0057 | 1 | 232 | 0.0043 | -137 | c.189 others(19): Show |
C1orf21 | ENSG00000116667.15 | transcript | ENST00000235307.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAMK1D_chr10_12344547_12840545 | 12401113 | TATATAAT others(130): Show |
T | intron_variant | MODIFIER | HG02155.hp1 HG03669.hp1 NA18945.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0005a0001c0001t0012others(3): Show | a0001c0001t0004g0134a0001c0001t0005g0137a0001c0001t0012g0132others(4): Show | 7 | 214 | 0.0327 | -137 | c.92+ others(17): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CARD8_chr19_48203086_48260912 | 48209032 | GGCCTGTA others(130): Show |
G | 3_prime_UTR_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0002 | a0001c0002t0054 | a0001c0002t0054g0281 | 1 | 362 | 0.0028 | -137 | c.*25 others(11): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 14/14 | 2541 | chr19 | TogoVar | |||||
| CBS_chr21_43048191_43080835 | 43051548 | GAGACCAG others(130): Show |
G | downstream_gene_variant | MODIFIER | HG01993.hp2 | a0009 | a0009c0016 | a0009c0016t0002 | a0009c0016t0002g0159 | 1 | 298 | 0.0034 | -137 | c.*21 others(11): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 1642 | chr21 | TogoVar | ||||||
| CBS_chr21_43048191_43080835 | 43051602 | TTAGACGA others(130): Show |
T | downstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01074.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0004t0001others(2): Show | a0001c0001t0001g0053a0001c0001t0008g0033a0001c0004t0001g0018others(10): Show | 16 | 298 | 0.0537 | -137 | c.*21 others(11): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 1588 | chr21 | TogoVar | ||||||
| CBS_chr21_43048191_43080835 | 43051631 | CATCCCAG others(130): Show |
C | downstream_gene_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 298 | 0.0034 | -137 | c.*21 others(11): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 1559 | chr21 | TogoVar | ||||||
| CCDC187_chr9_136244973_136309094 | 136251990 | CCGCCCAC others(130): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02071.hp2 HG04184.hp1 |
a0011a0173 | a0011c0017a0173c0141 | a0011c0017t0105a0173c0141t0144 | a0011c0017t0105g0332a0173c0141t0144g0072 | 2 | 400 | 0.0050 | -137 | c.*14 others(11): Show |
CCDC187 | ENSG00000260220.7 | transcript | ENST00000638797.2 | protein_coding | 26/26 | 1467 | chr9 | TogoVar | |||||
| CD99L2_chrX_150761336_150903668 | 150769681 | GCCACCAG others(130): Show |
G | intron_variant | MODIFIER | NA18612.hp1 NA18961.hp1 NA18979.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0020others(1): Show | a0001c0001t0001g0048a0001c0001t0001g0057a0001c0001t0001g0058others(6): Show | 9 | 212 | 0.0425 | -137 | c.721 others(15): Show |
CD99L2 | ENSG00000102181.22 | transcript | ENST00000370377.8 | protein_coding | 10/10 | chrX | TogoVar | ||||||
| CDCP1_chr3_45077277_45151378 | 45108806 | TGCATGTA others(130): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 NA19030.hp2 |
a0002a0003 | a0002c0002a0003c0006 | a0002c0002t0012a0003c0006t0011 | a0002c0002t0012g0042a0002c0002t0012g0043a0003c0006t0011g0269 | 3 | 384 | 0.0078 | -137 | c.102 others(19): Show |
CDCP1 | ENSG00000163814.8 | transcript | ENST00000296129.6 | protein_coding | 4/8 | chr3 | TogoVar | ||||||
| CLN8_chr8_1758789_1791570 | 1763507 | CCCCCCGC others(130): Show |
C | upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 413 | 0.0024 | -137 | c.-50 others(9): Show |
CLN8 | ENSG00000182372.10 | transcript | ENST00000331222.6 | protein_coding | 281 | chr8 | TogoVar | ||||||
| COL18A1_chr21_45400165_45518720 | 45437108 | CACACTCA others(130): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp2 HG02717.hp1 others(1): Show |
a0011a0020 | a0011c0040a0011c0104a0020c0094 | a0011c0040t0001a0011c0104t0002a0020c0094t0011 | a0011c0040t0001g0046a0011c0040t0001g0076a0011c0104t0002g0003others(1): Show | 4 | 292 | 0.0137 | -137 | c.107 others(19): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| CTC1_chr17_8219815_8253056 | 8245824 | CGGGAGGC others(130): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(104): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0001a0002c0010others(4): Show | a0001c0002t0004a0002c0001t0002a0002c0001t0017others(14): Show | a0001c0002t0004g0053a0002c0001t0002g0001a0002c0001t0002g0002others(60): Show | 107 | 402 | 0.2662 | -137 | c.33+ others(15): Show |
CTC1 | ENSG00000178971.17 | transcript | ENST00000651323.1 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1164090 | CTGGGGAC others(130): Show |
C | intron_variant | MODIFIER | HG02976.hp1 HG03486.hp2 |
a0001a0002 | a0001c0009a0002c0001 | a0001c0009t0012a0002c0001t0002 | a0001c0009t0012g0006a0002c0001t0002g0032 | 2 | 40 | 0.0500 | -137 | c.74- others(17): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DMD_chrX_31114222_33216549 | 32547440 | GTCTGTAA others(130): Show |
G | intron_variant | MODIFIER | HG02486.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0050 | 1 | 126 | 0.0079 | -137 | c.199 others(19): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 16/78 | chrX | TogoVar | ||||||
| DNAAF9_chr20_3244306_3412669 | 3257974 | CTGCCTTG others(130): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(86): Show |
a0001a0005a0007others(2): Show | a0001c0003a0001c0006a0001c0020others(4): Show | a0001c0003t0004a0001c0003t0005a0001c0003t0006others(14): Show | a0001c0003t0004g0007a0001c0003t0004g0011a0001c0003t0004g0013others(86): Show | 89 | 362 | 0.2459 | -137 | c.305 others(19): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 33/36 | chr20 | TogoVar | ||||||
| DNAAF9_chr20_3244306_3412669 | 3257980 | TGGCCTCC others(130): Show |
T | intron_variant | MODIFIER | HG03516.hp2 HG03579.hp2 |
a0001 | a0001c0008 | a0001c0008t0015 | a0001c0008t0015g0005a0001c0008t0015g0006 | 2 | 362 | 0.0055 | -137 | c.305 others(19): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 33/36 | chr20 | TogoVar | ||||||
| DUXA_chr19_57149021_57172485 | 57172030 | GGGGGCGG others(130): Show |
G | upstream_gene_variant | MODIFIER | HG01109.hp2 HG02109.hp1 HG02486.hp1 others(10): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0007a0001c0001t0001g0063a0001c0001t0001g0064others(8): Show | 13 | 446 | 0.0292 | -137 | c.-47 others(11): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 4546 | chr19 | TogoVar | ||||||
| ENOSF1_chr18_665318_717630 | 667161 | AGATGGTG others(130): Show |
A | downstream_gene_variant | MODIFIER | HG02056.hp2 HG02895.hp2 |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0002a0003c0007t0002 | a0001c0001t0002g0078a0003c0007t0002g0353 | 2 | 418 | 0.0048 | -137 | c.*70 others(11): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3156 | chr18 | TogoVar | ||||||
| ENPP6_chr4_184083706_184222873 | 184219852 | AAAGGGGA others(130): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00639.hp2 others(98): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(13): Show | a0001c0002t0001g0040a0001c0002t0001g0062a0001c0002t0001g0075others(96): Show | 101 | 320 | 0.3156 | -137 | c.-21 others(11): Show |
ENPP6 | ENSG00000164303.11 | transcript | ENST00000296741.7 | protein_coding | 1980 | chr4 | TogoVar | ||||||
| ERICH1_chr8_659200_736224 | 659615 | GGGGGTGA others(130): Show |
G | downstream_gene_variant | MODIFIER | HG01993.hp1 HG02074.hp2 NA18991.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0048a0001c0001t0001g0062a0001c0001t0001g0093others(1): Show | 4 | 378 | 0.0106 | -137 | c.*48 others(11): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4584 | chr8 | TogoVar | ||||||
| ERICH1_chr8_659200_736224 | 659753 | GGGGGTGA others(130): Show |
G | downstream_gene_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 378 | 0.0027 | -137 | c.*47 others(11): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4446 | chr8 | TogoVar | ||||||
| ERICH1_chr8_659200_736224 | 675240 | CGAGGACA others(130): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG06807.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0003c0004t0001 | a0001c0001t0002g0351a0003c0004t0001g0078 | 2 | 378 | 0.0053 | -137 | c.305 others(17): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
| ERICH1_chr8_659200_736224 | 675321 | GTGAGGAC others(130): Show |
G | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0218 | 1 | 378 | 0.0027 | -137 | c.305 others(17): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
| ERICH1_chr8_659200_736224 | 675650 | CGGCGAGG others(130): Show |
C | intron_variant | MODIFIER | HG01258.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0242a0001c0001t0002g0012 | 2 | 378 | 0.0053 | -137 | c.305 others(17): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
| ERICH1_chr8_659200_736224 | 675800 | ACGCGGCG others(130): Show |
A | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0330 | 1 | 378 | 0.0027 | -137 | c.305 others(17): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
| ERICH1_chr8_659200_736224 | 676228 | CGAGGACA others(130): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01169.hp1 HG03669.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0101a0001c0001t0001g0143a0001c0001t0001g0145others(2): Show | 5 | 378 | 0.0132 | -137 | c.305 others(17): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
| EXD3_chr9_137301896_137428162 | 137330486 | GAGCTACA others(130): Show |
G | intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0077 | 1 | 82 | 0.0122 | -137 | c.199 others(19): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
| FAF2_chr5_176443385_176515074 | 176477088 | GTGAGCCA others(130): Show |
G | intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0328 | 1 | 372 | 0.0027 | -137 | c.64- others(15): Show |
FAF2 | ENSG00000113194.13 | transcript | ENST00000261942.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| FGF1_chr5_142587178_142691090 | 142596444 | TTTTTTTT others(130): Show |
T | intron_variant | MODIFIER | HG03669.hp2 HG03704.hp1 HG03942.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077a0001c0001t0001g0146a0001c0001t0001g0207others(1): Show | 4 | 340 | 0.0118 | -137 | c.274 others(16): Show |
FGF1 | ENSG00000113578.18 | transcript | ENST00000337706.7 | protein_coding | 3/3 | chr5 | TogoVar |