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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZNF365_chr10_62369369_62407450 | 62370809 | C | CATCATAT others(548): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 350 | 0.0029 | 555 | c.-36 others(566): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3559 | chr10 | TogoVar | ||||||
ZNF365_chr10_62369369_62407450 | 62370969 | G | GATATATA others(548): Show |
upstream_gene_variant | MODIFIER | HG03654.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0006 | 1 | 350 | 0.0029 | 555 | c.-35 others(566): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3399 | chr10 | TogoVar | ||||||
ZNF516_chr18_76352682_76500242 | 76401788 | C | CCCCCGCG others(548): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0115 | a0001c0001t0115g0269 | 1 | 346 | 0.0029 | 555 | c.181 others(576): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
ZNF516_chr18_76352682_76500242 | 76401788 | C | CCCCCGCG others(548): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0002 | a0001c0002t0164 | a0001c0002t0164g0330 | 1 | 346 | 0.0029 | 555 | c.181 others(576): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
ZNF516_chr18_76352682_76500242 | 76401866 | C | CCTCCACC others(548): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0229 | 1 | 346 | 0.0029 | 555 | c.181 others(576): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1290018 | T | TCCCCCGT others(549): Show |
downstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 295 | 0.0034 | 556 | c.*35 others(567): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2372 | chr1 | TogoVar | ||||||
ACTRT3_chr3_169761921_169774561 | 169770602 | A | AATATAAA others(549): Show |
upstream_gene_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 418 | 0.0024 | 556 | c.-10 others(567): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1042 | chr3 | TogoVar | ||||||
ACTRT3_chr3_169761921_169774561 | 169770602 | A | AATATAAA others(549): Show |
upstream_gene_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 418 | 0.0024 | 556 | c.-10 others(567): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1042 | chr3 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100011336 | G | GGGAAGGA others(549): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0002 | a0002c0064 | a0002c0064t0005 | a0002c0064t0005g0150 | 1 | 228 | 0.0044 | 556 | c.259 others(577): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148581421 | T | TATACGTA others(549): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0084 | 1 | 169 | 0.0059 | 556 | c.48- others(573): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP10A_chr15_25673712_25868327 | 25758393 | A | ACTCATTC others(549): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0047 | a0047c0036 | a0047c0036t0001 | a0047c0036t0001g0182 | 1 | 300 | 0.0033 | 556 | c.655 others(575): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
C1QTNF8_chr16_1083226_1101244 | 1092978 | T | TGCACACA others(549): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 396 | 0.0025 | 556 | c.*4+ others(569): Show |
C1QTNF8 | ENSG00000184471.10 | transcript | ENST00000328449.6 | protein_coding | 4/4 | chr16 | TogoVar | ||||||
C1QTNF8_chr16_1083226_1101244 | 1092978 | T | TGCACACA others(549): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(60): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0005a0001c0001t0002g0010a0001c0001t0002g0012others(23): Show | 63 | 396 | 0.1591 | 556 | c.*4+ others(569): Show |
C1QTNF8 | ENSG00000184471.10 | transcript | ENST00000328449.6 | protein_coding | 4/4 | chr16 | TogoVar | ||||||
C1QTNF8_chr16_1083226_1101244 | 1092978 | T | TGCACACA others(549): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0128 | 1 | 396 | 0.0025 | 556 | c.*4+ others(569): Show |
C1QTNF8 | ENSG00000184471.10 | transcript | ENST00000328449.6 | protein_coding | 4/4 | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(549): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 338 | 0.0030 | 556 | c.300 others(573): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CACNA2D1_chr7_81941444_82448777 | 82159831 | T | TAAAAAAA others(549): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01261.hp2 HG02970.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0007a0001c0002t0010 | a0001c0001t0005g0139a0001c0001t0007g0078a0001c0002t0010g0092 | 3 | 144 | 0.0208 | 556 | c.354 others(575): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 4/38 | chr7 | TogoVar | ||||||
CD3G_chr11_118339344_118360161 | 118355868 | T | TATATACA others(549): Show |
downstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0018 | 1 | 442 | 0.0023 | 556 | c.*27 others(567): Show |
CD3G | ENSG00000160654.11 | transcript | ENST00000532917.3 | protein_coding | 708 | chr11 | TogoVar | ||||||
CDHR2_chr5_176544342_176600824 | 176591951 | G | GTTGGTGT others(549): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0012 | a0012c0021 | a0012c0021t0001 | a0012c0021t0001g0037 | 1 | 344 | 0.0029 | 556 | c.373 others(573): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | chr5 | TogoVar | ||||||
CFAP157_chr9_127701988_127721002 | 127720831 | T | TTCCCCCT others(549): Show |
downstream_gene_variant | MODIFIER | HG03492.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0002 | 1 | 354 | 0.0028 | 556 | c.*69 others(567): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4830 | chr9 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20357810 | T | TACTGAGG others(549): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0214 | 1 | 236 | 0.0042 | 556 | c.351 others(575): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CHODL_chr21_18239833_18272370 | 18251498 | A | ATATTTAT others(549): Show |
intron_variant | MODIFIER | HG02148.hp2 HG02165.hp1 HG02273.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0002c0006t0001 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(7): Show | 18 | 402 | 0.0448 | 556 | c.80- others(571): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CHODL_chr21_18239833_18272370 | 18251498 | A | ATATTTAT others(549): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 402 | 0.0025 | 556 | c.80- others(571): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CHODL_chr21_18239833_18272370 | 18251498 | A | ATATTTAT others(549): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 402 | 0.0025 | 556 | c.80- others(571): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CHODL_chr21_18239833_18272370 | 18251498 | A | ATATTTAT others(549): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01981.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282a0001c0001t0001g0283 | 2 | 402 | 0.0050 | 556 | c.80- others(571): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CNTN4_chr3_2093866_3062959 | 2705509 | A | ATATATAA others(549): Show |
intron_variant | MODIFIER | HG01169.hp2 HG02738.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0049a0001c0003t0002g0072 | 2 | 116 | 0.0172 | 556 | c.56- others(573): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 4/24 | chr3 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255668 | C | CAGGAAGG others(549): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 344 | 0.0029 | 556 | c.85- others(573): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255806 | A | AGGGGGAA others(549): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0002 | a0002c0040 | a0002c0040t0002 | a0002c0040t0002g0339 | 1 | 344 | 0.0029 | 556 | c.85- others(573): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255826 | A | AGGGGAAA others(549): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0304 | 1 | 344 | 0.0029 | 556 | c.85- others(573): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134760325 | C | CACACCCA others(549): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0005 | a0001c0005t0045 | a0001c0005t0045g0267 | 1 | 272 | 0.0037 | 556 | c.193 others(575): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 18/65 | chr9 | TogoVar | ||||||
CRLF2_chrX_1185490_1217649 | 1198192 | G | GCAGGACA others(549): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0160 | 1 | 167 | 0.0060 | 556 | c.646 others(571): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 5/7 | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1307586 | C | CTTCCCCC others(549): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0003 | a0003c0020 | a0003c0020t0005 | a0003c0020t0005g0129 | 1 | 159 | 0.0063 | 556 | c.112 others(575): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSMD1_chr8_2930361_4999914 | 3411971 | T | TATACATG others(549): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0029 | a0029c0028 | a0029c0028t0024 | a0029c0028t0024g0040 | 1 | 126 | 0.0079 | 556 | c.156 others(575): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113263068 | C | CGGATCTG others(549): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 396 | 0.0025 | 556 | c.218 others(573): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DAP_chr5_10674230_10766234 | 10730758 | C | CTACTGAG others(549): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02004.hp2 HG02015.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0021 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0046others(22): Show | 27 | 372 | 0.0726 | 556 | c.152 others(575): Show |
DAP | ENSG00000112977.16 | transcript | ENST00000230895.11 | protein_coding | 2/3 | chr5 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958131 | A | ACTGTAAC others(549): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0105 | 1 | 230 | 0.0044 | 556 | c.724 others(575): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958131 | A | ACTGTAAC others(549): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0121 | 1 | 230 | 0.0044 | 556 | c.724 others(575): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958131 | A | ACTGTAAC others(549): Show |
intron_variant | MODIFIER | HG02148.hp2 NA19090.hp2 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0005t0001 | a0001c0003t0001g0106a0001c0005t0001g0165 | 2 | 230 | 0.0087 | 556 | c.724 others(575): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 608695 | T | TCCCCCCC others(549): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 88 | 0.0114 | 556 | c.85+ others(573): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1417639 | G | GCACAGGG others(549): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0004 | a0002c0004t0018 | a0002c0004t0018g0010 | 1 | 40 | 0.0250 | 556 | c.107 others(575): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DOCK3_chr3_50669927_51389198 | 51015808 | C | CTATATAT others(549): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 212 | 0.0047 | 556 | c.316 others(575): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 5/52 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EBF2_chr8_25836725_26050413 | 26005369 | T | TATATAAT others(549): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03579.hp2 NA20300.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0011a0002c0003t0007 | a0001c0002t0011g0212a0002c0003t0007g0210a0002c0003t0007g0213 | 3 | 220 | 0.0136 | 556 | c.551 others(575): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | ||||||
EBF2_chr8_25836725_26050413 | 26005369 | T | TTATATAT others(549): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0010 | 1 | 220 | 0.0046 | 556 | c.551 others(575): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43730259 | A | AAAGGATG others(549): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02572.hp1 HG03139.hp2 others(2): Show |
a0007 | a0007c0014 | a0007c0014t0002a0007c0014t0005 | a0007c0014t0002g0015a0007c0014t0002g0016a0007c0014t0002g0017others(2): Show | 5 | 290 | 0.0172 | 556 | c.757 others(573): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 8/31 | chr22 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43730259 | A | AAAGGATG others(549): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0014 | a0014c0017 | a0014c0017t0001 | a0014c0017t0001g0282a0014c0017t0001g0283 | 2 | 290 | 0.0069 | 556 | c.757 others(573): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 8/31 | chr22 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137350578 | C | CTAGATAG others(549): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG01256.hp2 others(5): Show |
a0006a0007a0015others(2): Show | a0006c0004a0007c0010a0015c0028others(2): Show | a0006c0004t0001a0007c0010t0001a0015c0028t0001others(2): Show | a0006c0004t0001g0027a0006c0004t0001g0035a0006c0004t0001g0058others(5): Show | 8 | 82 | 0.0976 | 556 | c.149 others(573): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 14/21 | chr9 | TogoVar | ||||||
FOXP1_chr3_70949708_71588728 | 71435839 | G | GGAAGGGA others(549): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0037 | 1 | 96 | 0.0104 | 556 | c.-16 others(577): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
FOXP1_chr3_70949708_71588728 | 71435847 | C | CGGAGGGA others(549): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0082 | a0001c0001t0082g0007 | 1 | 96 | 0.0104 | 556 | c.-16 others(577): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
GPR173_chrX_53043789_53085615 | 53074114 | T | TTATATAT others(549): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0029 | 1 | 208 | 0.0048 | 556 | c.-97 others(573): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GPRIN1_chr5_176590802_176615156 | 176591951 | G | GTTGGTGT others(549): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 397 | 0.0025 | 556 | c.*48 others(567): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 3850 | chr5 | TogoVar | ||||||
HCN2_chr19_584881_622159 | 602360 | T | TCTCCTGC others(549): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0347 | 1 | 408 | 0.0025 | 556 | c.633 others(573): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |