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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNST_chr1_246561456_246673595 | 246619932 | AACACTAC others(637): Show |
A | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0218 | 1 | 318 | 0.0031 | -644 | c.380 others(16): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DCBLD2_chr3_98790941_98906695 | 98836816 | CAGGGGGC others(637): Show |
C | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0307 | 1 | 328 | 0.0030 | -644 | c.571 others(19): Show |
DCBLD2 | ENSG00000057019.16 | transcript | ENST00000326840.11 | protein_coding | 3/15 | chr3 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137565662 | TCTGTCTG others(637): Show |
T | intron_variant | MODIFIER | NA19000.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 a0001c0001t0001g0219 |
2 | 312 | 0.0064 | -644 | c.641 others(16): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
EXOC3_chr5_438176_472290 | 467742 | ATGTCTGA others(637): Show |
A | downstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 396 | 0.0025 | -644 | c.*84 others(10): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 453 | chr5 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132223362 | CNNNNNNN others(637): Show |
C | intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0121 | 1 | 35 | 0.0286 | -644 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
MYT1_chr20_64159452_64247253 | 64173954 | GTAGTTGT others(637): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG03471.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0006 | a0001c0001t0003g0023 a0001c0002t0006g0022 |
2 | 201 | 0.0100 | -644 | c.-99 others(17): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
NUP98_chr11_3670019_3802554 | 3746250 | CAAGAGCA others(637): Show |
C | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 340 | 0.0029 | -644 | c.126 others(19): Show |
NUP98 | ENSG00000110713.18 | transcript | ENST00000324932.12 | protein_coding | 11/32 | chr11 | TogoVar | |||||||
SAMD11_chr1_918923_949574 | 934064 | AGGGGAGG others(637): Show |
A | intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 272 | 0.0037 | -644 | c.843 others(17): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SAMD11_chr1_918923_949574 | 934105 | CCGTTACA others(637): Show |
C | intron_variant | MODIFIER | HG02698.hp2 HG03669.hp1 |
a0001a0022 | a0001c0001a0022c0040 | a0001c0001t0003a0022c0040t0003 | a0001c0001t0003g0173 a0022c0040t0003g0172 |
2 | 389 | 0.0051 | -644 | c.843 others(16): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SAMD11_chr1_918923_949574 | 934176 | AGGGGAGG others(637): Show |
A | intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0057 | 1 | 297 | 0.0034 | -644 | c.843 others(16): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC9A3_chr5_465456_529449 | 467742 | ATGTCTGA others(637): Show |
A | downstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 211 | 0.0047 | -644 | c.*49 others(11): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 2713 | chr5 | TogoVar | |||||||
SULT4A1_chr22_43819509_43867513 | 43834362 | CCACCGCG others(637): Show |
C | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0073 | 1 | 382 | 0.0026 | -644 | c.509 others(16): Show |
SULT4A1 | ENSG00000130540.14 | transcript | ENST00000330884.9 | protein_coding | 4/6 | chr22 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133291831 | CCCCCATG others(637): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00735.hp2 HG01891.hp1 others(20): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(3): Show | a0001c0001t0001g0025 a0001c0001t0001g0127 a0001c0001t0001g0129 others(18): Show |
23 | 280 | 0.0821 | -644 | c.121 others(16): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
ZNG1A_chr9_115837_184056 | 181183 | GCACGATC others(637): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00544.hp1 others(130): Show |
a0001a0002a0007others(1): Show | a0001c0003a0002c0002a0002c0008others(2): Show | a0001c0003t0001a0002c0002t0001a0002c0002t0002others(5): Show | a0001c0003t0001g0069 a0002c0002t0001g0008 a0002c0002t0001g0026 others(117): Show |
133 | 392 | 0.3393 | -644 | c.-28 others(11): Show |
ZNG1A | ENSG00000172785.19 | transcript | ENST00000356521.9 | protein_coding | 2128 | chr9 | TogoVar | |||||||
CDC34_chr19_526760_547087 | 540147 | GTGGCCAG others(636): Show |
G | intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 323 | 0.0031 | -643 | c.498 others(16): Show |
CDC34 | ENSG00000099804.9 | transcript | ENST00000215574.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1403088 | ATCCTCCA others(636): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02818.hp2 NA20300.hp1 |
a0001a0002 | a0001c0003a0002c0006 | a0001c0003t0013a0001c0003t0014a0002c0006t0021 | a0001c0003t0013g0007 a0001c0003t0014g0020 a0002c0006t0021g0014 |
3 | 40 | 0.0750 | -643 | c.107 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
GZMM_chr19_539053_554922 | 540147 | GTGGCCAG others(636): Show |
G | upstream_gene_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 393 | 0.0025 | -643 | c.-39 others(11): Show |
GZMM | ENSG00000197540.8 | transcript | ENST00000264553.6 | protein_coding | 3905 | chr19 | TogoVar | |||||||
MYO10_chr5_16656907_16941288 | 16888257 | AGTGACTC others(636): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02486.hp2 |
a0001a0004 | a0001c0025a0004c0061 | a0001c0025t0148a0004c0061t0037 | a0001c0025t0148g0025 a0004c0061t0037g0035 |
2 | 270 | 0.0074 | -643 | c.22- others(17): Show |
MYO10 | ENSG00000145555.15 | transcript | ENST00000513610.6 | protein_coding | 1/40 | chr5 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 2031775 | CCCCTCGC others(636): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02615.hp1 HG02647.hp1 others(7): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(6): Show | a0001c0001t0001g0050 a0001c0001t0002g0090 a0001c0001t0008g0009 others(7): Show |
10 | 102 | 0.0980 | -643 | c.-15 others(21): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 4/24 | chr2 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 401911 | ACCCCGGC others(636): Show |
A | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 203 | 0.0049 | -643 | c.173 others(18): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114006814 | CCCTCCTG others(636): Show |
C | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0013 | 1 | 66 | 0.0152 | -643 | c.174 others(16): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 18/23 | chr13 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133291832 | CCCCATGT others(636): Show |
C | intron_variant | MODIFIER | HG03579.hp2 | a0006 | a0006c0014 | a0006c0014t0001 | a0006c0014t0001g0080 | 1 | 282 | 0.0035 | -643 | c.121 others(16): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130049235 | AGGGGAAC others(635): Show |
A | downstream_gene_variant | MODIFIER | NA18952.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0061 | 1 | 301 | 0.0033 | -642 | c.*48 others(11): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2868 | chr8 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137565752 | TCTGTCTG others(635): Show |
T | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0306 | 1 | 309 | 0.0032 | -642 | c.641 others(16): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137818862 | GCGCCGTG others(635): Show |
G | intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 158 | 0.0063 | -642 | c.354 others(18): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 25/26 | chr9 | TogoVar | |||||||
FRMD1_chr6_168048095_168084212 | 168074426 | ACATGTGT others(635): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG02080.hp1 HG02129.hp2 others(2): Show |
a0001 | a0001c0004a0001c0005 | a0001c0004t0010a0001c0005t0005 | a0001c0004t0010g0023 a0001c0005t0005g0066 a0001c0005t0005g0067 |
5 | 400 | 0.0125 | -642 | c.304 others(15): Show |
FRMD1 | ENSG00000153303.18 | transcript | ENST00000283309.11 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
ITPRID1_chr7_31509090_31661504 | 31551739 | AAATCTGA others(635): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp2 others(51): Show |
a0002a0003a0012others(3): Show | a0002c0001a0003c0005a0003c0007others(4): Show | a0002c0001t0001a0002c0001t0002a0002c0001t0003others(13): Show | a0002c0001t0001g0029 a0002c0001t0001g0169 a0002c0001t0001g0191 others(51): Show |
54 | 310 | 0.1742 | -642 | c.-23 others(16): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LUC7L_chr16_183990_234449 | 186526 | GGGGAACA others(635): Show |
G | downstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 334 | 0.0030 | -642 | c.*20 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2463 | chr16 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114006815 | CCTCCTGC others(635): Show |
C | intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0012 | 1 | 64 | 0.0156 | -642 | c.174 others(16): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 18/23 | chr13 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1071518 | GGCATCAC others(635): Show |
G | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0048 | 1 | 117 | 0.0085 | -642 | c.224 others(19): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
CATSPER2_chr15_43623503_43653844 | 43624364 | TGCCACTG others(634): Show |
T | downstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0189 | 1 | 390 | 0.0026 | -641 | c.*56 others(11): Show |
CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 4138 | chr15 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237544522 | GGGGGGGG others(634): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(66): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0010a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(62): Show |
69 | 283 | 0.2438 | -641 | c.153 others(19): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
OTUD7A_chr15_31470398_31875673 | 31510841 | GTATATCT others(634): Show |
G | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0006 | a0001c0006t0018 | a0001c0006t0018g0208 | 1 | 244 | 0.0041 | -641 | c.894 others(17): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | |||||||
TBC1D5_chr3_17152168_17747631 | 17503508 | GCCTAGTA others(634): Show |
G | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0023 | 1 | 160 | 0.0063 | -641 | c.97+ others(15): Show |
TBC1D5 | ENSG00000131374.15 | transcript | ENST00000696125.1 | protein_coding | 3/22 | chr3 | TogoVar | |||||||
ZNF273_chr7_64898273_64935981 | 64898735 | AAATTGGT others(634): Show |
A | upstream_gene_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 420 | 0.0024 | -641 | c.-45 others(11): Show |
ZNF273 | ENSG00000198039.12 | transcript | ENST00000476120.2 | protein_coding | 4537 | chr7 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1540528 | GTAGTTCA others(633): Show |
G | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0040 | 1 | 106 | 0.0094 | -640 | c.101 others(21): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
AVL9_chr7_32490489_32593726 | 32572055 | GGGAGGCT others(633): Show |
G | intron_variant | MODIFIER | HG00733.hp1 HG02486.hp1 HG02622.hp1 others(2): Show |
a0001 | a0001c0007 | a0001c0007t0014 | a0001c0007t0014g0057 a0001c0007t0014g0058 a0001c0007t0014g0299 others(2): Show |
5 | 328 | 0.0152 | -640 | c.135 others(18): Show |
AVL9 | ENSG00000105778.20 | transcript | ENST00000318709.9 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15932463 | GGGAGAGG others(633): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG02809.hp2 |
a0002a0004 | a0002c0001a0004c0007 | a0002c0001t0081a0004c0007t0140 | a0002c0001t0081g0131 a0004c0007t0140g0206 |
2 | 261 | 0.0077 | -640 | c.198 others(17): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15933261 | CGAGGAGA others(633): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02109.hp1 |
a0001 | a0001c0006 | a0001c0006t0040a0001c0006t0099 | a0001c0006t0040g0127 a0001c0006t0099g0126 |
2 | 310 | 0.0065 | -640 | c.198 others(15): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 601195 | TCCCCTTG others(633): Show |
T | intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0221 | 1 | 225 | 0.0044 | -640 | c.743 others(17): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 7/27 | chr6 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132303630 | GAATCGCC others(633): Show |
G | intron_variant | MODIFIER | HG01175.hp1 HG02280.hp1 HG02698.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0010others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0010t0001others(3): Show | a0001c0001t0001g0059 a0001c0002t0001g0068 a0001c0002t0001g0151 others(7): Show |
10 | 176 | 0.0568 | -640 | c.239 others(19): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
GIP_chr17_48953554_48973596 | 48959796 | GGTAGGGA others(633): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp2 HG02622.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0055 a0001c0001t0001g0056 others(2): Show |
6 | 213 | 0.0282 | -640 | c.452 others(16): Show |
GIP | ENSG00000159224.4 | transcript | ENST00000357424.2 | protein_coding | 5/5 | chr17 | TogoVar | |||||||
GOLGA3_chr12_132763914_132833869 | 132792737 | TGCACTCG others(633): Show |
T | intron_variant | MODIFIER | NA18939.hp1 NA18946.hp2 NA18959.hp2 |
a0003 | a0003c0007 | a0003c0007t0007a0003c0007t0022 | a0003c0007t0007g0028 a0003c0007t0007g0030 a0003c0007t0022g0021 |
3 | 306 | 0.0098 | -640 | c.247 others(19): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 11/23 | chr12 | TogoVar | |||||||
GOLGA3_chr12_132763914_132833869 | 132792897 | TGCACTCG others(633): Show |
T | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0003 | a0001c0003t0018 | a0001c0003t0018g0156 | 1 | 306 | 0.0033 | -640 | c.247 others(19): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 11/23 | chr12 | TogoVar | |||||||
LPP_chr3_188149157_188895671 | 188784658 | CATATATA others(633): Show |
C | intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0014 | a0002c0014t0064 | a0002c0014t0064g0009 | 1 | 72 | 0.0139 | -640 | c.141 others(21): Show |
LPP | ENSG00000145012.15 | transcript | ENST00000617246.5 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237544523 | GGGGGGGA others(633): Show |
G | intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 244 | 0.0041 | -640 | c.153 others(19): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2122847 | GGTGGTTA others(633): Show |
G | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 237 | 0.0042 | -640 | c.335 others(19): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RGPD4_chr2_107821892_107897544 | 107828079 | AGGCAGCG others(633): Show |
A | intron_variant | MODIFIER | HG03516.hp2 | a0006 | a0006c0054 | a0006c0054t0045 | a0006c0054t0045g0191 | 1 | 305 | 0.0033 | -640 | c.72+ others(14): Show |
RGPD4 | ENSG00000196862.10 | transcript | ENST00000408999.4 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 287653 | GCACCCTC others(633): Show |
G | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0101 | 1 | 126 | 0.0079 | -640 | c.352 others(17): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SLC25A37_chr8_23523956_23580463 | 23549706 | GTCACTAT others(633): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00544.hp1 others(146): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0099 a0001c0001t0001g0244 a0001c0001t0001g0262 others(139): Show |
149 | 404 | 0.3688 | -640 | c.211 others(19): Show |
SLC25A37 | ENSG00000147454.14 | transcript | ENST00000519973.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |