view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C1R_chr12_7075219_7097445 | 7084000 | NNNNNNNN others(646): Show |
G | intron_variant | MODIFIER | HG03831.hp1 NA19011.hp1 |
a0005a0015 | a0005c0018a0015c0023 | a0005c0018t0001a0015c0023t0001 | a0005c0018t0001g0120 a0015c0023t0001g0085 |
2 | 320 | 0.0063 | -653 | c.127 others(677): Show |
C1R | ENSG00000159403.18 | transcript | ENST00000647956.2 | protein_coding | 9/10 | chr12 | TogoVar | |||||||
CDH4_chr20_61247261_61945617 | 61943092 | GACCACGA others(646): Show |
G | downstream_gene_variant | MODIFIER | HG01255.hp1 HG02723.hp1 HG03130.hp1 others(1): Show |
a0001 | a0001c0006a0001c0013a0001c0020 | a0001c0006t0006a0001c0006t0026a0001c0013t0006others(1): Show | a0001c0006t0006g0036 a0001c0006t0026g0034 a0001c0013t0006g0035 others(1): Show |
4 | 100 | 0.0400 | -653 | c.*61 others(11): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2476 | chr20 | TogoVar | |||||||
CHCHD3_chr7_132779870_133087090 | 132984916 | GCCCGGCC others(646): Show |
G | intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 308 | 0.0032 | -653 | c.252 others(18): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 3/7 | chr7 | TogoVar | |||||||
EPHB1_chr3_134790260_135265467 | 134955060 | TGACATCC others(646): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG00673.hp1 others(67): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0036 a0001c0001t0001g0045 a0001c0001t0001g0051 others(67): Show |
70 | 132 | 0.5303 | -653 | c.805 others(17): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FLT4_chr5_180596506_180654600 | 180617426 | TCCAGAGC others(646): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00733.hp1 HG01106.hp2 |
a0001a0008 | a0001c0001a0008c0024 | a0001c0001t0001a0008c0024t0001 | a0001c0001t0001g0257 a0008c0024t0001g0005 |
3 | 388 | 0.0077 | -653 | c.300 others(17): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 21/29 | chr5 | TogoVar | |||||||
FLT4_chr5_180596506_180654600 | 180617519 | GTCCTACT others(646): Show |
G | intron_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0003 | a0002c0003t0010 | a0002c0003t0010g0044 | 1 | 160 | 0.0063 | -653 | c.300 others(17): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 21/29 | chr5 | TogoVar | |||||||
SLC66A2_chr18_79897420_79956653 | 79921193 | GGAACCGA others(646): Show |
G | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0282 | 1 | 350 | 0.0029 | -653 | c.392 others(17): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | |||||||
SORCS2_chr4_7187538_7747827 | 7454590 | TGCTGTGT others(646): Show |
T | intron_variant | MODIFIER | HG03540.hp2 NA20300.hp1 |
a0001a0006 | a0001c0009a0006c0008 | a0001c0009t0037a0006c0008t0006 | a0001c0009t0037g0042 a0006c0008t0006g0155 |
2 | 168 | 0.0119 | -653 | c.548 others(19): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ZNF516_chr18_76352682_76500242 | 76473814 | AAGTAGCT others(646): Show |
A | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0141 | a0001c0001t0141g0092 | 1 | 344 | 0.0029 | -653 | c.-27 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 1/6 | chr18 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215142974 | TTTTTGAG others(645): Show |
T | upstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0119 | 1 | 196 | 0.0051 | -652 | c.-54 others(11): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 4349 | chr2 | TogoVar | |||||||
C1R_chr12_7075219_7097445 | 7083650 | GNNNNNNN others(645): Show |
G | intron_variant | MODIFIER | HG03927.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0047 | 1 | 13 | 0.0769 | -652 | c.127 others(19): Show |
C1R | ENSG00000159403.18 | transcript | ENST00000647956.2 | protein_coding | 9/10 | chr12 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1128595 | CGTCACCC others(645): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG03471.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0299 a0002c0002t0003g0300 |
2 | 318 | 0.0063 | -652 | c.-1- others(15): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
CNTN3_chr3_74257568_74619659 | 74516201 | GGGCAGGC others(645): Show |
G | intron_variant | MODIFIER | HG02004.hp2 HG02109.hp1 HG02257.hp1 others(6): Show |
a0001a0003a0007others(1): Show | a0001c0001a0001c0002a0003c0003others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(5): Show | a0001c0001t0002g0079 a0001c0001t0003g0046 a0001c0001t0008g0001 others(6): Show |
9 | 172 | 0.0523 | -652 | c.55+ others(15): Show |
CNTN3 | ENSG00000113805.9 | transcript | ENST00000263665.7 | protein_coding | 2/22 | chr3 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43695137 | AAACCTCC others(645): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01081.hp2 HG01928.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 a0001c0001t0001g0194 a0001c0001t0001g0197 others(7): Show |
10 | 382 | 0.0262 | -652 | c.-39 others(19): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1642288 | CCCTCACC others(645): Show |
C | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0023 | 1 | 39 | 0.0256 | -652 | c.181 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DPH7_chr9_137549444_137583925 | 137566574 | TCTGTCTG others(645): Show |
T | intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0283 | 1 | 323 | 0.0031 | -652 | c.641 others(17): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113347037 | TGGGAGGA others(645): Show |
T | intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 112 | 0.0089 | -652 | c.466 others(17): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
LPP_chr3_188149157_188895671 | 188784450 | TATATATA others(645): Show |
T | intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0038 | 1 | 73 | 0.0137 | -652 | c.141 others(21): Show |
LPP | ENSG00000145012.15 | transcript | ENST00000617246.5 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
OTUD7A_chr15_31470398_31875673 | 31510680 | AACATACA others(645): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG02148.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006 | a0001c0001t0005g0048 a0001c0001t0006g0122 |
2 | 239 | 0.0084 | -652 | c.894 others(17): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | |||||||
PLEKHG4B_chr5_87168_194966 | 164801 | AGCTCACA others(645): Show |
A | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0007 | a0001c0007t0009 | a0001c0007t0009g0149 | 1 | 207 | 0.0048 | -652 | c.347 others(19): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RHCE_chr1_25357249_25425825 | 25391161 | TGATGGTC others(645): Show |
T | intron_variant | MODIFIER | HG03831.hp2 | a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0064 | 1 | 332 | 0.0030 | -652 | c.634 others(15): Show |
RHCE | ENSG00000188672.19 | transcript | ENST00000294413.13 | protein_coding | 4/9 | chr1 | TogoVar | |||||||
TAF4B_chr18_26221445_26396685 | 26247981 | TCTCCTAC others(645): Show |
T | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0005 | a0001c0005t0013 | a0001c0005t0013g0034 | 1 | 272 | 0.0037 | -652 | c.344 others(19): Show |
TAF4B | ENSG00000141384.13 | transcript | ENST00000269142.10 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ZNF516_chr18_76352682_76500242 | 76392580 | AGGCAGGT others(645): Show |
A | intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0003 | a0002c0003t0157 | a0002c0003t0157g0080 | 1 | 344 | 0.0029 | -652 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
ZNF559_chr19_9319179_9350871 | 9320776 | TACCCGGG others(645): Show |
T | upstream_gene_variant | MODIFIER | HG02486.hp2 HG02572.hp2 HG02615.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 a0001c0001t0003g0209 a0001c0001t0003g0210 others(2): Show |
9 | 392 | 0.0230 | -652 | c.-36 others(11): Show |
ZNF559 | ENSG00000188321.14 | transcript | ENST00000603380.6 | protein_coding | 3402 | chr19 | TogoVar | |||||||
AURKB_chr17_8199734_8215575 | 8213961 | GCAACCTC others(644): Show |
G | upstream_gene_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0009 | 1 | 426 | 0.0023 | -651 | c.-41 others(11): Show |
AURKB | ENSG00000178999.13 | transcript | ENST00000585124.6 | protein_coding | 3387 | chr17 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241806761 | CTCCCCCC others(644): Show |
C | downstream_gene_variant | MODIFIER | NA18940.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0203 | 1 | 307 | 0.0033 | -651 | c.*25 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2475 | chr2 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132223362 | CNNNNNNN others(644): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG02080.hp1 NA18747.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0002t0001a0001c0008t0002 | a0001c0001t0001g0035 a0001c0001t0001g0075 a0001c0002t0001g0025 others(2): Show |
5 | 39 | 0.1282 | -651 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
RIPK1_chr6_3063494_3120187 | 3090792 | AGCGCCTA others(644): Show |
A | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0322 | 1 | 304 | 0.0033 | -651 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RIPK1_chr6_3063494_3120187 | 3091930 | TAACCGCA others(644): Show |
T | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0035 | 1 | 321 | 0.0031 | -651 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RIPK1_chr6_3063494_3120187 | 3092550 | GAACCGCA others(644): Show |
G | intron_variant | MODIFIER | HG01978.hp1 HG02280.hp1 NA18939.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0133 a0001c0001t0001g0267 a0001c0002t0001g0176 others(2): Show |
5 | 330 | 0.0152 | -651 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RIPK1_chr6_3063494_3120187 | 3092590 | CGCGCCTA others(644): Show |
C | intron_variant | MODIFIER | HG03704.hp2 NA18983.hp2 NA18990.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0038 a0001c0002t0002g0018 a0001c0002t0002g0067 others(2): Show |
5 | 278 | 0.0180 | -651 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RIPK1_chr6_3063494_3120187 | 3092621 | CGCGCCTA others(644): Show |
C | intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 289 | 0.0035 | -651 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RIPK1_chr6_3063494_3120187 | 3092767 | TAACCGCA others(644): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01070.hp2 HG01071.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0058 a0001c0001t0001g0206 others(2): Show |
5 | 296 | 0.0169 | -651 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TAF4B_chr18_26221445_26396685 | 26247866 | ACTCTGTC others(644): Show |
A | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0002 | a0001c0002t0031 | a0001c0002t0031g0002 | 1 | 272 | 0.0037 | -651 | c.344 others(19): Show |
TAF4B | ENSG00000141384.13 | transcript | ENST00000269142.10 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
XXYLT1_chr3_195063284_195276159 | 195066025 | GGCAGTTT others(644): Show |
G | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00642.hp1 HG00673.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0014others(2): Show | a0001c0001t0003g0014 a0001c0001t0003g0021 a0001c0001t0003g0034 others(33): Show |
36 | 196 | 0.1837 | -651 | c.*30 others(11): Show |
XXYLT1 | ENSG00000173950.16 | transcript | ENST00000310380.11 | protein_coding | 2258 | chr3 | TogoVar | |||||||
ZNF462_chr9_106858166_107018634 | 106913633 | TGTGACCC others(644): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp2 HG01109.hp2 others(5): Show |
a0003 | a0003c0004 | a0003c0004t0002a0003c0004t0006a0003c0004t0018 | a0003c0004t0002g0028 a0003c0004t0002g0033 a0003c0004t0002g0037 others(5): Show |
8 | 190 | 0.0421 | -651 | c.-30 others(17): Show |
ZNF462 | ENSG00000148143.13 | transcript | ENST00000277225.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3671985 | ATTTAGAT others(643): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp2 HG01256.hp2 others(20): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0009others(7): Show | a0001c0001t0002a0002c0002t0002a0002c0009t0002others(7): Show | a0001c0001t0002g0029 a0001c0001t0002g0138 a0001c0001t0002g0154 others(19): Show |
23 | 236 | 0.0975 | -650 | c.33+ others(14): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 2/11 | chr2 | TogoVar | |||||||
D2HGDH_chr2_241729630_241773811 | 241765806 | GTGGGGAG others(643): Show |
G | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0068 | 1 | 352 | 0.0028 | -650 | c.130 others(19): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
D2HGDH_chr2_241729630_241773811 | 241766356 | GTGGGGAG others(643): Show |
G | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0183 | 1 | 357 | 0.0028 | -650 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DPH7_chr9_137549444_137583925 | 137567702 | CGTGAGGA others(643): Show |
C | intron_variant | MODIFIER | HG03195.hp1 HG03225.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0174 a0001c0006t0001g0175 |
2 | 283 | 0.0071 | -650 | c.641 others(17): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
ERC1_chr12_986223_1500931 | 1086614 | GTTGTTGT others(643): Show |
G | intron_variant | MODIFIER | HG01256.hp1 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0031 a0001c0001t0015g0038 |
2 | 160 | 0.0125 | -650 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 519176 | CCACTGAG others(643): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(59): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0057 a0001c0001t0001g0066 a0001c0001t0001g0120 others(59): Show |
62 | 266 | 0.2331 | -650 | c.238 others(21): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
RAPGEF1_chr9_131571775_131745076 | 131586489 | CACACACA others(643): Show |
C | intron_variant | MODIFIER | HG02886.hp2 HG02976.hp1 HG03195.hp1 |
a0001 | a0001c0006a0001c0016 | a0001c0006t0011a0001c0016t0011 | a0001c0006t0011g0054 a0001c0006t0011g0302 a0001c0016t0011g0057 |
3 | 333 | 0.0090 | -650 | c.323 others(18): Show |
RAPGEF1 | ENSG00000107263.19 | transcript | ENST00000683357.1 | protein_coding | 22/26 | chr9 | TogoVar | |||||||
RBFOX3_chr17_79084345_79616051 | 79511692 | GTACAGCC others(643): Show |
G | intron_variant | MODIFIER | HG02976.hp2 HG03471.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0023 | a0001c0001t0002g0093 a0001c0001t0004g0105 a0001c0001t0023g0127 |
3 | 152 | 0.0197 | -650 | c.-31 others(21): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
SLC66A2_chr18_79897420_79956653 | 79920684 | TGAGGAGA others(643): Show |
T | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0175 | 1 | 327 | 0.0031 | -650 | c.392 others(17): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | |||||||
SLC66A2_chr18_79897420_79956653 | 79920858 | TGAGAGGT others(643): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0164 a0001c0001t0002g0229 |
2 | 174 | 0.0115 | -650 | c.392 others(17): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | |||||||
STYXL1_chr7_75991342_76053000 | 76038692 | CTGGGATT others(643): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01192.hp2 HG01884.hp1 others(18): Show |
a0001a0005 | a0001c0003a0005c0008 | a0001c0003t0001a0005c0008t0001 | a0001c0003t0001g0272 a0001c0003t0001g0273 a0001c0003t0001g0274 others(18): Show |
21 | 354 | 0.0593 | -650 | c.-5+ others(15): Show |
STYXL1 | ENSG00000127952.17 | transcript | ENST00000359697.8 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
TAF4B_chr18_26221445_26396685 | 26248042 | ATTTTTTT others(643): Show |
A | intron_variant | MODIFIER | HG01516.hp1 HG02818.hp2 HG02886.hp2 |
a0001a0005 | a0001c0001a0005c0012a0005c0013 | a0001c0001t0008a0005c0012t0018a0005c0013t0018 | a0001c0001t0008g0053 a0005c0012t0018g0187 a0005c0013t0018g0188 |
3 | 269 | 0.0112 | -650 | c.344 others(19): Show |
TAF4B | ENSG00000141384.13 | transcript | ENST00000269142.10 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
THEG_chr19_356747_381026 | 376769 | TGTGCCCC others(643): Show |
T | upstream_gene_variant | MODIFIER | NA18948.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0312 | 1 | 327 | 0.0031 | -650 | c.-14 others(10): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 744 | chr19 | TogoVar | |||||||
USP40_chr2_233470526_233571782 | 233567762 | TTATAGTT others(643): Show |
T | upstream_gene_variant | MODIFIER | HG03453.hp2 HG03486.hp1 NA18522.hp2 others(2): Show |
a0002 | a0002c0010 | a0002c0010t0011 | a0002c0010t0011g0002 a0002c0010t0011g0019 a0002c0010t0011g0020 others(1): Show |
5 | 310 | 0.0161 | -650 | c.-17 others(11): Show |
USP40 | ENSG00000085982.16 | transcript | ENST00000678225.2 | protein_coding | 981 | chr2 | TogoVar |