| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| TMEM44_chr3_194582678_194638419 | 194634644 | ACTGTCTC others(1251): Show |
A | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02723.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0006 | a0001c0001t0001a0001c0001t0002a0002c0003t0029others(3): Show | a0001c0001t0001g0187a0001c0001t0002g0186a0002c0003t0029g0063others(6): Show | 9 | 404 | 0.0223 | -1258 | c.-26 others(11): Show |
TMEM44 | ENSG00000145014.18 | transcript | ENST00000347147.9 | protein_coding | 1226 | chr3 | TogoVar | ||||||
| YBEY_chr21_46281342_46302751 | 46292992 | ACAGCCAC others(1251): Show |
A | intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0166 | 1 | 404 | 0.0025 | -1258 | c.339 others(17): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| P2RX5_chr17_3668227_3701155 | 3686190 | GAGAACAG others(1250): Show |
G | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 362 | 0.0028 | -1257 | c.981 others(16): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| ZNF99_chr19_22747183_22789151 | 22756441 | CTCTTCAC others(1250): Show |
C | stop_lost others(1): Show |
HIGH | NA19068.hp1 | a0000 | a0000c0029 | a0000c0029t0027 | a0000c0029t0027g0215 | 1 | 344 | 0.0029 | -1257 | c.221 others(9): Show |
p.Glu others(19): Show |
ZNF99 | ENSG00000213973.10 | transcript | ENST00000596209.4 | protein_coding | 4/4 | 3602/7861 | 2211/2595 | 737/864 | chr19 | TogoVar | ||
| ADGRA1_chr10_133082924_133136675 | 133135419 | TCTGGTCT others(1249): Show |
T | downstream_gene_variant | MODIFIER | HG01928.hp1 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0030 | a0001c0001t0021g0315a0001c0001t0030g0036 | 2 | 368 | 0.0054 | -1256 | c.*59 others(11): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 3745 | chr10 | TogoVar | ||||||
| CCDC127_chr5_191868_223153 | 211742 | CGACATCG others(1249): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG02109.hp1 HG02258.hp1 others(9): Show |
a0001 | a0001c0003 | a0001c0003t0040a0001c0003t0187a0001c0003t0188others(8): Show | a0001c0003t0040g0038a0001c0003t0187g0241a0001c0003t0188g0245others(8): Show | 12 | 406 | 0.0296 | -1256 | c.121 others(17): Show |
CCDC127 | ENSG00000164366.4 | transcript | ENST00000296824.4 | protein_coding | 2/2 | chr5 | TogoVar | ||||||
| RGL3_chr19_11389060_11424314 | 11412054 | CGGATCAC others(1249): Show |
C | intron_variant | MODIFIER | NA19088.hp2 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0383 | 1 | 402 | 0.0025 | -1256 | c.637 others(17): Show |
RGL3 | ENSG00000205517.13 | transcript | ENST00000380456.8 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 287555 | TCTCTCCA others(1249): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(23): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0030a0001c0001t0001g0065a0001c0001t0001g0110others(23): Show | 26 | 133 | 0.1955 | -1256 | c.352 others(17): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
| SLMAP_chr3_57751309_57935003 | 57891820 | ACCCGCCT others(1249): Show |
A | intron_variant | MODIFIER | HG02735.hp1 NA19004.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0019 | a0001c0002t0001g0221a0001c0002t0019g0220 | 2 | 310 | 0.0065 | -1256 | c.136 others(19): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 15/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CCDC57_chr17_82096470_82217842 | 82132092 | TTGGGTGA others(1248): Show |
T | intron_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0211 | 1 | 252 | 0.0040 | -1255 | c.257 others(18): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 16/18 | chr17 | TogoVar | ||||||
| CCDC127_chr5_191868_223153 | 211932 | CACTGCAG others(1247): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02273.hp1 others(9): Show |
a0001 | a0001c0003 | a0001c0003t0038a0001c0003t0039a0001c0003t0041others(6): Show | a0001c0003t0038g0039a0001c0003t0039g0040a0001c0003t0041g0041others(6): Show | 12 | 406 | 0.0296 | -1254 | c.121 others(17): Show |
CCDC127 | ENSG00000164366.4 | transcript | ENST00000296824.4 | protein_coding | 2/2 | chr5 | TogoVar | ||||||
| PCBP3_chr21_45638725_45947450 | 45923904 | GGGAACAG others(1247): Show |
G | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0224 | 1 | 292 | 0.0034 | -1254 | c.718 others(17): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| CSN1S1_chr4_69926068_69951574 | 69934121 | TCAAAAAT others(1246): Show |
T | exon_loss_variant | HIGH | HG01433.hp2 | a0006 | a0006c0026 | a0006c0026t0001 | a0006c0026t0001g0060 | 1 | 448 | 0.0022 | -1253 | c.52- others(13): Show |
CSN1S1 | ENSG00000126545.14 | transcript | ENST00000246891.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 744702 | GGGGGTCG others(1246): Show |
G | intron_variant | MODIFIER | HG03453.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0071a0001c0001t0007g0079 | 2 | 366 | 0.0055 | -1253 | c.462 others(15): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 746293 | CCCGGGGG others(1246): Show |
C | intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0036 | 1 | 366 | 0.0027 | -1253 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ADARB2_chr10_1172313_1742525 | 1235540 | TCCCCTCT others(1245): Show |
T | intron_variant | MODIFIER | HG02040.hp2 HG02735.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0002c0002t0002 | a0001c0001t0011g0017a0002c0002t0002g0066 | 2 | 106 | 0.0189 | -1252 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| CCSER1_chr4_90122394_91610295 | 91239028 | TTTAGCCA others(1245): Show |
T | intron_variant | MODIFIER | HG03017.hp1 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0016 | 2 | 38 | 0.0526 | -1252 | c.221 others(23): Show |
CCSER1 | ENSG00000184305.16 | transcript | ENST00000509176.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 745102 | CGGGGTCG others(1245): Show |
C | intron_variant | MODIFIER | HG01175.hp1 NA18980.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0266a0001c0001t0007g0364 | 2 | 366 | 0.0055 | -1252 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 745293 | TTCGCCGT others(1245): Show |
T | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0278 | 1 | 366 | 0.0027 | -1252 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 746037 | TCCGTGGA others(1245): Show |
T | intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0160 | 1 | 366 | 0.0027 | -1252 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1342275 | TGCTCTGT others(1245): Show |
T | intron_variant | MODIFIER | HG01099.hp1 | a0010 | a0010c0012 | a0010c0012t0001 | a0010c0012t0001g0096 | 1 | 190 | 0.0053 | -1252 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TRAPPC6B_chr14_39142814_39175333 | 39162865 | TTCAACCT others(1245): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02451.hp2 HG02572.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0010 | a0001c0001t0009g0022a0001c0001t0009g0065a0001c0001t0009g0115others(3): Show | 14 | 430 | 0.0326 | -1252 | c.82- others(15): Show |
TRAPPC6B | ENSG00000182400.15 | transcript | ENST00000330149.10 | protein_coding | 1/5 | chr14 | TogoVar | ||||||
| TRIM16_chr17_15622966_15689311 | 15637022 | TAAGAATT others(1245): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00597.hp2 HG00621.hp2 others(30): Show |
a0003a0004a0005others(3): Show | a0003c0025a0004c0003a0005c0009others(4): Show | a0003c0025t0004a0004c0003t0001a0004c0003t0004others(12): Show | a0003c0025t0004g0323a0004c0003t0001g0101a0004c0003t0004g0011others(29): Show | 33 | 360 | 0.0917 | -1252 | c.616 others(16): Show |
TRIM16 | ENSG00000221926.13 | transcript | ENST00000649191.2 | protein_coding | 8/11 | chr17 | TogoVar | ||||||
| ATP5MG_chr11_118396606_118414847 | 118410941 | AGTGGCTC others(1244): Show |
A | downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0036 | 1 | 336 | 0.0030 | -1251 | c.*18 others(11): Show |
ATP5MG | ENSG00000167283.9 | transcript | ENST00000300688.8 | protein_coding | 1095 | chr11 | TogoVar | ||||||
| FARP2_chr2_241351285_241499841 | 241450557 | TCAGGAGG others(1244): Show |
T | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0360 | 1 | 378 | 0.0027 | -1251 | c.141 others(19): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 13/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 745070 | GCCGTGGA others(1244): Show |
G | intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0309 | 1 | 366 | 0.0027 | -1251 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 745553 | CCCGGGGG others(1244): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0008a0001c0001t0012g0016 | 2 | 366 | 0.0055 | -1251 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 745781 | CCCCGGGG others(1244): Show |
C | intron_variant | MODIFIER | HG02965.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0038 | a0001c0001t0027g0009a0001c0001t0038g0010 | 2 | 366 | 0.0055 | -1251 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 745952 | CCCCGGGG others(1244): Show |
C | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 366 | 0.0027 | -1251 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SPTBN4_chr19_40462001_40581464 | 40476691 | CATTCTCC others(1244): Show |
C | intron_variant | MODIFIER | HG03516.hp2 | a0008 | a0008c0013 | a0008c0013t0001 | a0008c0013t0001g0143 | 1 | 234 | 0.0043 | -1251 | c.169 others(17): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| TCERG1L_chr10_131087391_131316721 | 131191693 | AAAACCAA others(1244): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00642.hp1 others(30): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0058a0001c0001t0001g0079a0001c0001t0001g0082others(30): Show | 33 | 324 | 0.1019 | -1251 | c.857 others(19): Show |
TCERG1L | ENSG00000176769.9 | transcript | ENST00000368642.4 | protein_coding | 4/11 | chr10 | TogoVar | ||||||
| ZNF667_chr19_56434329_56482345 | 56444667 | GAAATTTC others(1244): Show |
G | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0072 | 1 | 362 | 0.0028 | -1251 | c.254 others(17): Show |
ZNF667 | ENSG00000198046.13 | transcript | ENST00000504904.8 | protein_coding | 6/6 | chr19 | TogoVar | ||||||
| CCSER1_chr4_90122394_91610295 | 91240099 | AGAGTCTT others(1243): Show |
G | intron_variant | MODIFIER | HG01099.hp1 HG01099.hp2 HG01192.hp1 others(25): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0002g0027others(25): Show | 28 | 38 | 0.7368 | -1250 | c.221 others(23): Show |
CCSER1 | ENSG00000184305.16 | transcript | ENST00000509176.6 | protein_coding | 10/10 | chr4 | TogoVar | ||||||
| D2HGDH_chr2_241729630_241773811 | 241765405 | CTTGGGGA others(1243): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02647.hp1 HG03139.hp2 |
a0002a0003a0004 | a0002c0002a0003c0003a0004c0005 | a0002c0002t0013a0003c0003t0013a0004c0005t0013 | a0002c0002t0013g0152a0003c0003t0013g0352a0004c0005t0013g0149 | 3 | 412 | 0.0073 | -1250 | c.130 others(19): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| HSD17B14_chr19_48808018_48841491 | 48834444 | GAGGTGCT others(1243): Show |
G | intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0008 | 1 | 394 | 0.0025 | -1250 | c.127 others(14): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 2/8 | chr19 | TogoVar | ||||||
| P2RX5_chr17_3668227_3701155 | 3686129 | CAGAACAG others(1243): Show |
C | intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 362 | 0.0028 | -1250 | c.981 others(16): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| PLEKHA4_chr19_48832097_48873617 | 48834444 | GAGGTGCT others(1243): Show |
G | downstream_gene_variant | MODIFIER | HG02965.hp2 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0041 | 1 | 300 | 0.0033 | -1250 | c.*15 others(11): Show |
PLEKHA4 | ENSG00000105559.13 | transcript | ENST00000263265.11 | protein_coding | 2652 | chr19 | TogoVar | ||||||
| SIRT4_chr12_120297321_120318249 | 120312031 | CCAGCACT others(1243): Show |
C | exon_loss_variant | HIGH | NA18974.hp2 | a0000 | a0000c0006 | a0000c0006t0003 | a0000c0006t0003g0067 | 1 | 380 | 0.0026 | -1250 | c.498 others(12): Show |
SIRT4 | ENSG00000089163.4 | transcript | ENST00000202967.4 | protein_coding | 3/4 | chr12 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1344972 | TCCCCCTG others(1243): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp2 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0150a0004c0004t0001g0151 | 2 | 190 | 0.0105 | -1250 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TAF4_chr20_61969798_62070881 | 62057603 | CCAGCAAG others(1243): Show |
C | intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0177 | 1 | 314 | 0.0032 | -1250 | c.136 others(19): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
| CCSER1_chr4_90122394_91610295 | 91240324 | ACCTCAGC others(1242): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02723.hp2 HG03139.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0004a0001c0008t0019 | a0001c0001t0001g0032a0001c0001t0004g0022a0001c0008t0019g0029 | 3 | 38 | 0.0790 | -1249 | c.221 others(23): Show |
CCSER1 | ENSG00000184305.16 | transcript | ENST00000509176.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| KIAA1217_chr10_24204138_24552843 | 24280549 | TGCCTGTA others(1242): Show |
T | intron_variant | MODIFIER | HG02922.hp1 | a0007 | a0007c0029 | a0007c0029t0002 | a0007c0029t0002g0232 | 1 | 240 | 0.0042 | -1249 | c.354 others(19): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| DOC2B_chr17_137789_186650 | 166707 | CGTAGTGA others(1241): Show |
C | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0002 | a0001c0002t0034 | a0001c0002t0034g0091 | 1 | 339 | 0.0030 | -1248 | c.454 others(17): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
| DOC2B_chr17_137789_186650 | 166843 | GTTCTTGA others(1241): Show |
G | intron_variant | MODIFIER | HG01361.hp2 HG01928.hp1 HG01928.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0062 | a0001c0001t0002g0135a0001c0001t0002g0137a0001c0001t0002g0238others(1): Show | 4 | 339 | 0.0118 | -1248 | c.454 others(17): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
| MAP7_chr6_136337734_136555422 | 136530537 | ATCAAACA others(1241): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG01074.hp1 HG01123.hp2 others(54): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(6): Show | a0001c0001t0001g0043a0001c0001t0001g0063a0001c0001t0001g0072others(54): Show | 57 | 248 | 0.2298 | -1248 | c.67+ others(17): Show |
MAP7 | ENSG00000135525.19 | transcript | ENST00000354570.8 | protein_coding | 1/17 | chr6 | TogoVar | ||||||
| MUC4_chr3_195741771_195816929 | 195778856 | CAAGAGGG others(1241): Show |
C | conservative_inframe_deletion | MODERATE | HG02451.hp2 | a0072 | a0072c0173 | a0072c0173t0004 | a0072c0173t0004g0225 | 1 | 249 | 0.0040 | -1248 | c.114 others(11): Show |
p.Pro others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 12835/16756 | 11476/16239 | 3826/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195778871 | GACCTGTG others(1241): Show |
G | conservative_inframe_deletion | MODERATE | HG00099.hp2 HG00140.hp1 HG01106.hp2 others(3): Show |
a0026a0097a0175others(2): Show | a0026c0009a0097c0129a0175c0031others(2): Show | a0026c0009t0002a0097c0129t0002a0175c0031t0001others(2): Show | a0026c0009t0002g0112a0026c0009t0002g0192a0097c0129t0002g0188others(3): Show | 6 | 249 | 0.0241 | -1248 | c.114 others(11): Show |
p.Asp others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 12820/16756 | 11461/16239 | 3821/5412 | chr3 | TogoVar | ||
| S1PR4_chr19_3173769_3185332 | 3174260 | GCCTGTGT others(1241): Show |
G | upstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 1 | 418 | 0.0024 | -1248 | c.-45 others(11): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 4508 | chr19 | TogoVar | ||||||
| SMYD3_chr1_245744347_246512279 | 245975805 | TAGGGAAA others(1241): Show |
T | intron_variant | MODIFIER | HG00741.hp2 | a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0097 | 1 | 150 | 0.0067 | -1248 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1106744 | ATGGACAC others(1241): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01081.hp1 others(11): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(6): Show | a0001c0001t0001g0141a0001c0002t0001g0017a0001c0002t0001g0029others(11): Show | 14 | 190 | 0.0737 | -1248 | c.325 others(17): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |