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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C7orf50_chr7_992006_1143247 | 1127793 | G | GATCTCGG others(867): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0297 | 1 | 326 | 0.0031 | 874 | c.-1- others(887): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
CCBE1_chr18_59425939_59702423 | 59473808 | C | CACTATTT others(867): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0146 | 1 | 242 | 0.0041 | 874 | c.266 others(891): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 3/10 | chr18 | TogoVar | ||||||
CCBE1_chr18_59425939_59702423 | 59473808 | C | CACTATTT others(867): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0041 | 1 | 242 | 0.0041 | 874 | c.266 others(891): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 3/10 | chr18 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136803080 | G | GGGGGCCC others(867): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0310 | 1 | 398 | 0.0025 | 874 | c.666 others(889): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TGGATAGA others(867): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0011 | a0011c0018 | a0011c0018t0003 | a0011c0018t0003g0122 | 1 | 236 | 0.0042 | 874 | c.342 others(893): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TGGATAGA others(867): Show |
intron_variant | MODIFIER | HG02970.hp1 NA18522.hp1 |
a0004 | a0004c0008 | a0004c0008t0001a0004c0008t0003 | a0004c0008t0001g0135a0004c0008t0003g0184 | 2 | 236 | 0.0085 | 874 | c.342 others(893): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20357810 | T | TACTGAGG others(867): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0073 | 1 | 236 | 0.0042 | 874 | c.351 others(893): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
COL21A1_chr6_56051590_56252580 | 56098108 | T | TATATAAA others(867): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00741.hp2 HG01099.hp1 others(10): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0002c0003t0001a0002c0003t0003 | a0001c0002t0002g0167a0001c0002t0002g0185a0001c0002t0002g0186others(10): Show | 13 | 264 | 0.0492 | 874 | c.181 others(893): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134685430 | C | CCATCCAT others(867): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0052 | a0001c0052t0020 | a0001c0052t0020g0199 | 1 | 272 | 0.0037 | 874 | c.110 others(891): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CYSLTR1_chrX_78266468_78332611 | 78269606 | A | AATACAGA others(867): Show |
downstream_gene_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 240 | 0.0042 | 874 | c.*31 others(885): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 1861 | chrX | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 417622 | G | GCCTGTCA others(867): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 88 | 0.0114 | 874 | c.739 others(891): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 6/36 | chr10 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89634556 | T | TCCTTTCC others(867): Show |
intron_variant | MODIFIER | HG03927.hp2 NA18944.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0111a0002c0002t0001g0029 | 2 | 250 | 0.0080 | 874 | c.105 others(891): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ERICH1_chr8_659200_736224 | 659547 | T | TGTGCACT others(867): Show |
downstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0275 | 1 | 378 | 0.0027 | 874 | c.*50 others(885): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4652 | chr8 | TogoVar | ||||||
FHIT_chr3_59742277_61256452 | 60551574 | G | GAGGGGAG others(867): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 46 | 0.0217 | 874 | c.-17 others(893): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 4/9 | chr3 | TogoVar | ||||||
IFFO2_chr1_18899280_18961676 | 18925844 | A | ATGGATTG others(867): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0052 | 1 | 376 | 0.0027 | 874 | c.666 others(891): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(867): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 204 | 0.0049 | 874 | c.978 others(891): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(867): Show |
downstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0227 | 1 | 276 | 0.0036 | 874 | c.*65 others(885): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | ||||||
KDM2B_chr12_121424096_121586023 | 121514828 | C | CTCCCCAC others(867): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 270 | 0.0037 | 874 | c.104 others(893): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | ||||||
LAMA2_chr6_128878138_129521566 | 129385145 | G | GGAAAAAG others(867): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0034 | a0034c0055 | a0034c0055t0002 | a0034c0055t0002g0030 | 1 | 88 | 0.0114 | 874 | c.507 others(893): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 35/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
LDLRAD3_chr11_35939062_36237136 | 36055104 | T | TGCATAGA others(867): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01256.hp2 HG01258.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0087a0001c0001t0001g0115a0001c0001t0001g0210others(8): Show | 11 | 236 | 0.0466 | 874 | c.193 others(893): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 953966 | C | CTCCTGCA others(867): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0029 | 1 | 294 | 0.0034 | 874 | c.503 others(889): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
MED16_chr19_862963_898187 | 871889 | A | AGAGGGGG others(867): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0023 | a0002c0023t0001 | a0002c0023t0001g0006 | 1 | 56 | 0.0179 | 874 | c.209 others(889): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | TogoVar | ||||||
MED16_chr19_862963_898187 | 871891 | C | CGGGGAGG others(867): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0036 | 1 | 56 | 0.0179 | 874 | c.209 others(889): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | TogoVar | ||||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTCCCC others(867): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0038 | 1 | 194 | 0.0052 | 874 | c.-12 others(893): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTCCCC others(867): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01070.hp2 HG01071.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(2): Show | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0161others(7): Show | 10 | 194 | 0.0516 | 874 | c.-12 others(893): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTCCCC others(867): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0003 | a0003c0003 | a0003c0003t0019 | a0003c0003t0019g0041 | 1 | 194 | 0.0052 | 874 | c.-12 others(893): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
NOTCH1_chr9_136489433_136551048 | 136528393 | G | GGGGGGTG others(867): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0008 | a0001c0008t0009 | a0001c0008t0009g0195 | 1 | 324 | 0.0031 | 874 | c.141 others(891): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136528393 | G | GGGGGGTG others(867): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0002 | a0002c0010 | a0002c0010t0002 | a0002c0010t0002g0161 | 1 | 324 | 0.0031 | 874 | c.141 others(891): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136528393 | G | GGGGGGTG others(867): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02886.hp2 |
a0004 | a0004c0021 | a0004c0021t0003a0004c0021t0004 | a0004c0021t0003g0206a0004c0021t0004g0029 | 2 | 324 | 0.0062 | 874 | c.141 others(891): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136528393 | G | GGGGGGTG others(867): Show |
intron_variant | MODIFIER | HG00558.hp1 NA18967.hp1 NA19064.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0222a0001c0001t0003g0312a0001c0001t0007g0221 | 3 | 324 | 0.0093 | 874 | c.141 others(891): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136528393 | G | GGGGGGTG others(867): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0024 | a0001c0024t0003 | a0001c0024t0003g0192 | 1 | 324 | 0.0031 | 874 | c.141 others(891): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136528393 | G | GGGGGGTG others(867): Show |
intron_variant | MODIFIER | HG00423.hp2 NA18964.hp1 NA18971.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0007 | a0001c0001t0003g0232a0001c0001t0003g0299a0001c0001t0003g0300others(2): Show | 5 | 324 | 0.0154 | 874 | c.141 others(891): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136528393 | G | GGGGGGTG others(867): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02818.hp1 HG02976.hp1 others(2): Show |
a0001a0020 | a0001c0004a0001c0005a0001c0044others(1): Show | a0001c0004t0003a0001c0005t0008a0001c0044t0008others(1): Show | a0001c0004t0003g0316a0001c0005t0008g0006a0001c0005t0008g0021others(2): Show | 5 | 324 | 0.0154 | 874 | c.141 others(891): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136528393 | G | GGGGGGTG others(867): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0275 | 1 | 324 | 0.0031 | 874 | c.141 others(891): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(867): Show |
downstream_gene_variant | MODIFIER | HG02027.hp1 NA19079.hp2 NA19085.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 3 | 456 | 0.0066 | 874 | c.*31 others(885): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(867): Show |
downstream_gene_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 456 | 0.0022 | 874 | c.*31 others(885): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(867): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0220 | 1 | 279 | 0.0036 | 874 | c.215 others(891): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(867): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02056.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002a0002c0002t0001g0070a0002c0002t0001g0169others(2): Show | 7 | 279 | 0.0251 | 874 | c.215 others(891): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(867): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0051 | a0051c0037 | a0051c0037t0001 | a0051c0037t0001g0011 | 1 | 308 | 0.0033 | 874 | c.371 others(891): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137518738 | C | CCACTCCA others(867): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0073 | 1 | 188 | 0.0053 | 874 | c.108 others(893): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 11/34 | chr9 | TogoVar | ||||||
POLG_chr15_89311320_89339824 | 89325135 | T | TGAGTGAG others(867): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0037 | 2 | 398 | 0.0050 | 874 | c.194 others(891): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(867): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0165 | 1 | 220 | 0.0046 | 874 | c.24+ others(891): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
RGS17_chr6_152999459_153136282 | 153108701 | T | TAGAAAAT others(867): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00673.hp1 HG01884.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0023a0001c0001t0001g0024a0001c0001t0001g0031others(13): Show | 16 | 338 | 0.0473 | 874 | c.-26 others(893): Show |
RGS17 | ENSG00000091844.8 | transcript | ENST00000206262.2 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
RGS17_chr6_152999459_153136282 | 153108701 | T | TAGAAAAT others(867): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0022 | 1 | 338 | 0.0030 | 874 | c.-26 others(893): Show |
RGS17 | ENSG00000091844.8 | transcript | ENST00000206262.2 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
RGS17_chr6_152999459_153136282 | 153108701 | T | TAGAAAAT others(867): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0139 | 1 | 338 | 0.0030 | 874 | c.-26 others(893): Show |
RGS17 | ENSG00000091844.8 | transcript | ENST00000206262.2 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
SLC66A2_chr18_79897420_79956653 | 79952716 | G | GCGGGTGA others(867): Show |
upstream_gene_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0302 | 1 | 352 | 0.0028 | 874 | c.-12 others(885): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 1064 | chr18 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414446 | G | GGGAGGGG others(867): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 373 | 0.0027 | 874 | c.115 others(891): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414453 | G | GCAGGGCG others(867): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 373 | 0.0027 | 874 | c.115 others(891): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
SPAAR_chr9_35904490_35916686 | 35914319 | C | CTGTATGT others(867): Show |
downstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 420 | 0.0024 | 874 | c.*36 others(885): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2634 | chr9 | TogoVar | ||||||
TECTA_chr11_121096243_121196490 | 121186127 | T | TAATGAAT others(867): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0140 | 1 | 348 | 0.0029 | 874 | c.600 others(893): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |