| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ZFYVE28_chr4_2264597_2423645 | 2396121 | ACAAGGCG others(647): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(82): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0001g0066a0001c0001t0001g0068a0001c0001t0001g0097others(82): Show | 85 | 290 | 0.2931 | -654 | c.39+ others(17): Show |
ZFYVE28 | ENSG00000159733.14 | transcript | ENST00000290974.7 | protein_coding | 1/12 | chr4 | TogoVar | ||||||
| C1R_chr12_7075219_7097445 | 7084000 | NNNNNNNN others(646): Show |
N | intron_variant | MODIFIER | HG03831.hp1 NA19011.hp1 |
a0005a0009 | a0005c0018a0009c0023 | a0005c0018t0001a0009c0023t0001 | a0005c0018t0001g0185a0009c0023t0001g0126 | 2 | 320 | 0.0063 | -653 | c.127 others(19): 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 | a0001c0006t0006a0001c0006t0029a0001c0013t0006others(1): Show | a0001c0006t0006g0029a0001c0006t0029g0035a0001c0013t0006g0036others(1): Show | 4 | 106 | 0.0377 | -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 | 310 | 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 |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0035a0001c0001t0001g0040a0001c0001t0001g0051others(67): Show | 70 | 134 | 0.5224 | -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 |
a0001a0009 | a0001c0001a0009c0024 | a0001c0001t0001a0009c0024t0001 | a0001c0001t0001g0259a0009c0024t0001g0004 | 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 | a0002c0003t0010g0043 | 1 | 388 | 0.0026 | -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 | a0001c0001t0007g0279 | 1 | 352 | 0.0028 | -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 |
a0001a0005 | a0001c0009a0005c0008 | a0001c0009t0051a0005c0008t0013 | a0001c0009t0051g0042a0005c0008t0013g0155 | 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 | a0001c0001t0187 | a0001c0001t0187g0089 | 1 | 346 | 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 | a0001c0001t0002g0121 | 1 | 198 | 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 | a0002c0002t0001g0042 | 1 | 320 | 0.0031 | -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 | a0002c0002t0003g0300a0002c0002t0003g0304 | 2 | 326 | 0.0061 | -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 |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0003c0003others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(5): Show | a0001c0001t0002g0082a0001c0001t0003g0049a0001c0001t0008g0001others(6): Show | 9 | 174 | 0.0517 | -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 | a0001c0001t0001g0176a0001c0001t0001g0196a0001c0001t0001g0199others(7): Show | 10 | 384 | 0.0260 | -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 | 40 | 0.0250 | -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 | 340 | 0.0029 | -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 | a0001c0001t0001g0197 | 1 | 288 | 0.0035 | -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 | a0002c0004t0003 | a0002c0004t0003g0050 | 1 | 76 | 0.0132 | -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 | a0001c0001t0005g0049a0001c0001t0006g0123 | 2 | 244 | 0.0082 | -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 | a0001c0007t0008 | a0001c0007t0008g0150 | 1 | 210 | 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 | a0009c0009t0001g0059 | 1 | 334 | 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 | 274 | 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 | a0002c0003t0203 | a0002c0003t0203g0077 | 1 | 346 | 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 | a0001c0001t0003g0005a0001c0001t0003g0218a0001c0001t0003g0219others(2): Show | 9 | 394 | 0.0228 | -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 | 428 | 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 | a0003c0003t0001g0234 | 1 | 314 | 0.0032 | -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 | a0001c0001t0001g0035a0001c0001t0001g0075a0001c0002t0001g0025others(2): Show | 5 | 183 | 0.0273 | -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 | a0001c0001t0011g0328 | 1 | 340 | 0.0029 | -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 | a0001c0004t0001g0029 | 1 | 340 | 0.0029 | -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 | a0001c0001t0001g0129a0001c0001t0001g0269a0001c0002t0001g0174others(2): Show | 5 | 340 | 0.0147 | -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 | a0001c0001t0002g0032a0001c0002t0002g0012a0001c0002t0002g0062others(2): Show | 5 | 340 | 0.0147 | -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 | a0001c0001t0001g0184 | 1 | 340 | 0.0029 | -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 | a0001c0001t0001g0024a0001c0001t0001g0052a0001c0001t0001g0204others(2): Show | 5 | 340 | 0.0147 | -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 | a0001c0002t0031g0007 | 1 | 274 | 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 | a0001c0001t0003g0014a0001c0001t0003g0021a0001c0001t0003g0033others(33): Show | 36 | 198 | 0.1818 | -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 | a0003c0004t0002g0025a0003c0004t0002g0040a0003c0004t0002g0046others(5): Show | 8 | 192 | 0.0417 | -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(4): Show | a0001c0001a0002c0002a0002c0009others(7): Show | a0001c0001t0002a0002c0002t0002a0002c0009t0002others(7): Show | a0001c0001t0002g0019a0001c0001t0002g0154a0001c0001t0002g0173others(19): Show | 23 | 274 | 0.0839 | -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 | a0001c0001t0008g0067 | 1 | 412 | 0.0024 | -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 | a0001c0001t0042g0185 | 1 | 412 | 0.0024 | -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 | a0001c0001t0001g0174a0001c0006t0001g0173 | 2 | 340 | 0.0059 | -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 | a0001c0001t0015a0001c0001t0097 | a0001c0001t0015g0038a0001c0001t0097g0031 | 2 | 162 | 0.0124 | -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 | a0001c0001t0001g0046a0001c0001t0001g0064a0001c0001t0001g0120others(59): Show | 62 | 272 | 0.2279 | -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 | a0001c0006t0011g0053a0001c0006t0011g0302a0001c0016t0011g0056 | 3 | 368 | 0.0082 | -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 | a0001c0001t0002g0093a0001c0001t0004g0105a0001c0001t0023g0127 | 3 | 154 | 0.0195 | -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 | a0001c0001t0007g0172 | 1 | 352 | 0.0028 | -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 | a0001c0001t0002g0161a0001c0001t0002g0226 | 2 | 352 | 0.0057 | -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 | a0001c0003t0001g0245a0001c0003t0001g0248a0001c0003t0001g0281others(18): Show | 21 | 356 | 0.0590 | -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 |
a0001a0006 | a0001c0001a0006c0012a0006c0013 | a0001c0001t0008a0006c0012t0018a0006c0013t0018 | a0001c0001t0008g0055a0006c0012t0018g0227a0006c0013t0018g0228 | 3 | 274 | 0.0110 | -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 | a0002c0002t0001g0330 | 1 | 370 | 0.0027 | -650 | c.-14 others(10): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 744 | chr19 | TogoVar |