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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ERC1_chr12_986223_1500931 | 1086094 | GTTGTTGT others(315): Show |
G | intron_variant | MODIFIER | HG01261.hp1 HG02145.hp1 HG02559.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0130a0001c0001t0132a0001c0001t0133others(1): Show | a0001c0001t0130g0102a0001c0001t0132g0103a0001c0001t0133g0094others(1): Show | 4 | 162 | 0.0247 | -322 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1086549 | GTTGTTGT others(315): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00738.hp1 others(17): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0011others(17): Show | a0001c0001t0003g0029a0001c0001t0008g0010a0001c0001t0011g0020others(17): Show | 20 | 162 | 0.1235 | -322 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1087007 | GTTGTTGT others(315): Show |
G | intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0083 | a0001c0001t0083g0130 | 1 | 162 | 0.0062 | -322 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1087920 | GTTGTTGT others(315): Show |
G | intron_variant | MODIFIER | HG03579.hp1 | a0007 | a0007c0012 | a0007c0012t0073 | a0007c0012t0073g0067 | 1 | 162 | 0.0062 | -322 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1088050 | GTTGTTGT others(315): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00738.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0011a0001c0001t0093others(3): Show | a0001c0001t0003g0029a0001c0001t0011g0020a0001c0001t0093g0008others(3): Show | 6 | 162 | 0.0370 | -322 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1088115 | GTTGTTGT others(315): Show |
G | intron_variant | MODIFIER | HG01256.hp1 HG01257.hp1 HG01346.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0015a0001c0001t0019others(7): Show | a0001c0001t0001g0080a0001c0001t0015g0038a0001c0001t0019g0120others(7): Show | 10 | 162 | 0.0617 | -322 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1088428 | ATTATTAT others(315): Show |
A | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0106 | a0001c0001t0106g0003 | 1 | 162 | 0.0062 | -322 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1089873 | GTTGTTGT others(315): Show |
G | intron_variant | MODIFIER | HG01106.hp2 | a0002 | a0002c0002 | a0002c0002t0105 | a0002c0002t0105g0148 | 1 | 162 | 0.0062 | -322 | 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 | 601450 | CCACACAC others(315): Show |
C | intron_variant | MODIFIER | HG00099.hp1 NA19002.hp1 NA19077.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0004 | a0001c0001t0001g0071a0001c0001t0004g0076a0001c0002t0004g0022 | 3 | 272 | 0.0110 | -322 | c.743 others(17): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 7/27 | chr6 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 675533 | CCTCTGGA others(315): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(139): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0010a0001c0001t0001g0015a0001c0001t0001g0016others(139): Show | 142 | 272 | 0.5221 | -322 | c.-44 others(19): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 1/27 | chr6 | TogoVar | ||||||
FAM13A_chr4_88720960_89062185 | 88760309 | TAGAAATG others(315): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00642.hp2 others(93): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0011others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(93): Show | 96 | 208 | 0.4615 | -322 | c.157 others(19): Show |
FAM13A | ENSG00000138640.15 | transcript | ENST00000264344.10 | protein_coding | 13/23 | chr4 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241805906 | CCCCTCAG others(315): Show |
C | downstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0212 | 1 | 314 | 0.0032 | -322 | c.*17 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1620 | chr2 | TogoVar | ||||||
GGCT_chr7_30491621_30509829 | 30495987 | TTTTTTTT others(315): Show |
T | downstream_gene_variant | MODIFIER | HG00408.hp2 HG01070.hp1 HG01071.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0169a0001c0001t0002g0026a0001c0001t0002g0156others(8): Show | 14 | 444 | 0.0315 | -322 | c.*78 others(10): Show |
GGCT | ENSG00000006625.18 | transcript | ENST00000275428.9 | protein_coding | 633 | chr7 | TogoVar | ||||||
GSG1L_chr16_27782528_28068714 | 27805235 | GGGGTGGG others(315): Show |
G | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0227 | 1 | 240 | 0.0042 | -322 | c.898 others(17): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 6/6 | chr16 | TogoVar | ||||||
HMCN1_chr1_185729391_186195949 | 185797672 | TAAGACTT others(315): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG01069.hp1 HG01891.hp2 others(14): Show |
a0001a0005a0007others(6): Show | a0001c0001a0001c0027a0005c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0027t0002others(10): Show | a0001c0001t0001g0087a0001c0001t0001g0091a0001c0001t0002g0004others(14): Show | 17 | 92 | 0.1848 | -322 | c.269 others(19): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 1/106 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HSD17B2_chr16_82030253_82103534 | 82043387 | TAAAAATC others(315): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp2 HG01884.hp1 others(45): Show |
a0000a0001a0002others(1): Show | a0000c0002a0001c0001a0001c0010others(3): Show | a0000c0002t0001a0001c0001t0001a0001c0010t0001others(3): Show | a0000c0002t0001g0314a0000c0002t0001g0316a0000c0002t0001g0317others(43): Show | 48 | 366 | 0.1312 | -322 | c.265 others(17): Show |
HSD17B2 | ENSG00000086696.11 | transcript | ENST00000199936.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
IL1A_chr2_112768925_112789493 | 112776428 | TCCCAAAA others(315): Show |
T | intron_variant | MODIFIER | HG02630.hp2 | a0006 | a0006c0006 | a0006c0006t0005 | a0006c0006t0005g0069 | 1 | 358 | 0.0028 | -322 | c.615 others(17): Show |
IL1A | ENSG00000115008.6 | transcript | ENST00000263339.4 | protein_coding | 6/6 | chr2 | TogoVar | ||||||
IPP_chr1_45693711_45755653 | 45724909 | CGGCCAGC others(315): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0043a0001c0001t0004g0044 | 2 | 128 | 0.0156 | -322 | c.104 others(19): Show |
IPP | ENSG00000197429.11 | transcript | ENST00000396478.4 | protein_coding | 5/8 | chr1 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124109903 | ATCATACT others(315): Show |
A | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0039 | a0001c0039t0001 | a0001c0039t0001g0091 | 1 | 116 | 0.0086 | -322 | c.73+ others(17): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KLK5_chr19_50938303_50958038 | 50954206 | CAAGAAGA others(315): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00735.hp2 HG01070.hp1 others(44): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(4): Show | a0001c0001t0003g0012a0001c0001t0003g0280a0001c0001t0003g0281others(42): Show | 47 | 380 | 0.1237 | -322 | c.-17 others(11): Show |
KLK5 | ENSG00000167754.13 | transcript | ENST00000336334.8 | protein_coding | 1169 | chr19 | TogoVar | ||||||
KLK6_chr19_50953631_50974591 | 50954206 | CAAGAAGA others(315): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00735.hp1 HG01070.hp1 others(42): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0059a0001c0001t0001g0060others(39): Show | 45 | 316 | 0.1424 | -322 | c.*46 others(11): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 4424 | chr19 | TogoVar | ||||||
LHFPL6_chr13_39337892_39608193 | 39454332 | TAAGAGTT others(315): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(189): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0023a0001c0001t0001g0066a0001c0001t0001g0068others(188): Show | 192 | 242 | 0.7934 | -322 | c.386 others(19): Show |
LHFPL6 | ENSG00000183722.9 | transcript | ENST00000379589.4 | protein_coding | 2/3 | chr13 | TogoVar | ||||||
LRRC4C_chr11_40109209_41464652 | 40985468 | ATAAAGAA others(315): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG01074.hp2 HG01261.hp1 others(41): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(41): Show | 44 | 48 | 0.9167 | -322 | c.-49 others(21): Show |
LRRC4C | ENSG00000148948.8 | transcript | ENST00000528697.6 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
MAOB_chrX_43761610_43887450 | 43809946 | TGAAAGCT others(315): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01891.hp1 others(14): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0011a0001c0003t0004others(4): Show | a0001c0001t0001g0191a0001c0001t0001g0192a0001c0001t0001g0193others(14): Show | 17 | 234 | 0.0727 | -322 | c.280 others(17): Show |
MAOB | ENSG00000069535.14 | transcript | ENST00000378069.5 | protein_coding | 3/14 | chrX | TogoVar | ||||||
MBD3L2B_chr19_7013969_7026431 | 7025262 | TGGCTAAT others(315): Show |
T | upstream_gene_variant | MODIFIER | NA19079.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 | 1 | 350 | 0.0029 | -322 | c.-41 others(11): Show |
MBD3L2B | ENSG00000196589.8 | transcript | ENST00000636986.2 | protein_coding | 3832 | chr19 | TogoVar | ||||||
MEI1_chr22_41694503_41804454 | 41744474 | GCTATGAT others(315): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(208): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0003a0001c0004others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0128a0001c0001t0001g0129others(206): Show | 211 | 260 | 0.8115 | -322 | c.144 others(17): Show |
MEI1 | ENSG00000167077.13 | transcript | ENST00000401548.8 | protein_coding | 12/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MEI4_chr6_77648039_77932045 | 77927588 | ATCCCCAT others(315): Show |
A | downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0026 | 1 | 360 | 0.0028 | -322 | c.*42 others(11): Show |
MEI4 | ENSG00000269964.4 | transcript | ENST00000684080.1 | protein_coding | 544 | chr6 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17801130 | ATCCTGAG others(315): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00642.hp1 others(152): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0002a0001c0015others(51): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(85): Show | a0001c0001t0001g0027a0001c0001t0001g0031a0001c0001t0001g0043others(152): Show | 155 | 274 | 0.5657 | -322 | c.565 others(19): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 29/31 | chr22 | TogoVar | ||||||
MICU3_chr8_17022238_17127642 | 17104696 | TTAAAAAT others(315): Show |
T | intron_variant | MODIFIER | HG02155.hp1 NA18964.hp2 NA18967.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0007 | a0001c0001t0004g0257a0001c0001t0004g0268a0001c0001t0004g0273others(2): Show | 5 | 374 | 0.0134 | -322 | c.108 others(17): Show |
MICU3 | ENSG00000155970.12 | transcript | ENST00000318063.10 | protein_coding | 10/14 | chr8 | TogoVar | ||||||
MICU3_chr8_17022238_17127642 | 17104697 | TAAAAATT others(315): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(213): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0016others(205): Show | 216 | 374 | 0.5775 | -322 | c.108 others(17): Show |
MICU3 | ENSG00000155970.12 | transcript | ENST00000318063.10 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MUC4_chr3_195741771_195816929 | 195767498 | TCACCACC others(315): Show |
T | intron_variant | MODIFIER | HG03688.hp1 | a0081 | a0081c0189 | a0081c0189t0011 | a0081c0189t0011g0206 | 1 | 249 | 0.0040 | -322 | c.135 others(20): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 7/24 | chr3 | TogoVar | ||||||
NCKAP5_chr2_132666788_133573463 | 133116192 | TAAGAAAA others(315): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00673.hp1 others(24): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0009a0002c0002others(14): Show | a0001c0001t0001a0001c0009t0001a0001c0009t0003others(19): Show | a0001c0001t0001g0037a0001c0009t0001g0042a0001c0009t0003g0056others(24): Show | 27 | 70 | 0.3857 | -322 | c.341 others(19): Show |
NCKAP5 | ENSG00000176771.18 | transcript | ENST00000409261.6 | protein_coding | 6/19 | chr2 | TogoVar | ||||||
NDUFA10_chr2_239952372_240030342 | 240019522 | TAAAAAGA others(315): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(200): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0010a0001c0001t0013a0001c0001t0015others(33): Show | a0001c0001t0010g0021a0001c0001t0010g0171a0001c0001t0010g0172others(163): Show | 203 | 412 | 0.4927 | -322 | c.461 others(16): Show |
NDUFA10 | ENSG00000130414.13 | transcript | ENST00000252711.7 | protein_coding | 3/9 | chr2 | TogoVar | ||||||
NELL2_chr12_44503278_44881315 | 44617391 | TGAAAAAG others(315): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01167.hp1 HG01175.hp1 others(37): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(6): Show | a0001c0001t0001g0054a0001c0001t0001g0061a0001c0001t0001g0115others(37): Show | 40 | 158 | 0.2532 | -322 | c.144 others(19): Show |
NELL2 | ENSG00000184613.11 | transcript | ENST00000429094.7 | protein_coding | 13/19 | chr12 | TogoVar | ||||||
NEU4_chr2_241804193_241822413 | 241805906 | CCCCTCAG others(315): Show |
C | upstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0014 | 1 | 319 | 0.0031 | -322 | c.-33 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3286 | chr2 | TogoVar | ||||||
NFIC_chr19_3361583_3474217 | 3407135 | GTGGAGTC others(315): Show |
G | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0002 | a0001c0002t0079 | a0001c0002t0079g0198 | 1 | 300 | 0.0033 | -322 | c.563 others(19): Show |
NFIC | ENSG00000141905.19 | transcript | ENST00000443272.3 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NIBAN1_chr1_184786032_184979508 | 184799722 | AATGATTG others(315): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(165): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0029others(21): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(42): Show | a0001c0001t0001g0023a0001c0001t0001g0042a0001c0001t0001g0056others(164): Show | 168 | 256 | 0.6563 | -322 | c.155 others(19): Show |
NIBAN1 | ENSG00000135842.17 | transcript | ENST00000367511.4 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
NIBAN1_chr1_184786032_184979508 | 184967905 | TAGAAATC others(315): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(159): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0014others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(39): Show | a0001c0001t0001g0023a0001c0001t0001g0042a0001c0001t0001g0056others(158): Show | 162 | 256 | 0.6328 | -322 | c.55+ others(15): Show |
NIBAN1 | ENSG00000135842.17 | transcript | ENST00000367511.4 | protein_coding | 1/13 | chr1 | TogoVar | ||||||
OPRM1_chr6_154034240_154137356 | 154125780 | AGGCTAGA others(315): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(219): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0009a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(95): Show | a0001c0001t0001g0001a0001c0001t0001g0026a0001c0001t0001g0044others(215): Show | 222 | 268 | 0.8284 | -322 | c.*70 others(11): Show |
OPRM1 | ENSG00000112038.18 | transcript | ENST00000330432.12 | protein_coding | 4/4 | 7075 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
PADI4_chr1_17303197_17369004 | 17358269 | TATAAAAA others(315): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(286): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0005a0001c0011others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(27): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0017others(283): Show | 289 | 372 | 0.7769 | -322 | c.155 others(17): Show |
PADI4 | ENSG00000159339.13 | transcript | ENST00000375448.4 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PJA2_chr5_109329722_109414974 | 109341874 | GGGGGGGT others(315): Show |
G | intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0287 | 1 | 346 | 0.0029 | -322 | c.200 others(19): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 9/9 | chr5 | TogoVar | ||||||
PKHD1L1_chr8_109357461_109542207 | 109498078 | TCATGTTT others(315): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(153): Show |
a0001a0003a0006others(39): Show | a0001c0001a0001c0020a0001c0049others(45): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0010others(56): Show | a0001c0001t0002g0002a0001c0001t0002g0182a0001c0001t0002g0183others(150): Show | 156 | 282 | 0.5532 | -322 | c.106 others(18): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 65/77 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PRKACB_chr1_84139271_84243498 | 84198943 | ATATACAT others(315): Show |
A | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 320 | 0.0031 | -322 | c.783 others(17): Show |
PRKACB | ENSG00000142875.21 | transcript | ENST00000370685.7 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PTPRA_chr20_2868481_3043669 | 2883355 | TAGAAAGA others(315): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(287): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(17): Show | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0013others(287): Show | 290 | 356 | 0.8146 | -322 | c.-12 others(19): Show |
PTPRA | ENSG00000132670.21 | transcript | ENST00000399903.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PTPRD_chr9_8309246_10618002 | 9134047 | ATAGAATC others(315): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG03225.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0022a0001c0001t0024a0001c0003t0023others(3): Show | a0001c0001t0022g0012a0001c0001t0024g0032a0001c0003t0023g0031others(3): Show | 6 | 34 | 0.1765 | -322 | c.-14 others(21): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 10/45 | chr9 | TogoVar | ||||||
RBBP6_chr16_24534566_24577863 | 24574256 | CGGGGCGG others(315): Show |
C | downstream_gene_variant | MODIFIER | HG02896.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130a0001c0001t0001g0136 | 2 | 336 | 0.0060 | -322 | c.*18 others(11): Show |
RBBP6 | ENSG00000122257.20 | transcript | ENST00000319715.10 | protein_coding | 1394 | chr16 | TogoVar | ||||||
RBMS3_chr3_29276071_30015386 | 29578791 | TTTTTTTT others(315): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG01071.hp1 HG01361.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0015a0001c0001t0017others(18): Show | a0001c0001t0002g0050a0001c0001t0015g0029a0001c0001t0017g0077others(19): Show | 22 | 116 | 0.1897 | -322 | c.308 others(17): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RELN_chr7_103466789_103994658 | 103822619 | TAAAGAAT others(315): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(164): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0002a0001c0003others(73): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(103): Show | a0001c0001t0001g0045a0001c0001t0001g0066a0001c0001t0001g0073others(164): Show | 167 | 184 | 0.9076 | -322 | c.473 others(19): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 3/64 | chr7 | TogoVar | ||||||
RNF149_chr2_101270601_101313701 | 101275420 | CCCTAGTA others(315): Show |
C | splice_region_variant | LOW | HG03225.hp2 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0232 | 1 | 378 | 0.0027 | -322 | c.*14 others(11): Show |
RNF149 | ENSG00000163162.9 | transcript | ENST00000295317.4 | protein_coding | 7/7 | chr2 | TogoVar | ||||||
RPL17_chr18_49483481_49497465 | 49493481 | CAAGAGTA others(315): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(234): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(24): Show | 237 | 445 | 0.5326 | -322 | c.-13 others(11): Show |
RPL17 | ENSG00000265681.8 | transcript | ENST00000580261.6 | protein_coding | 1017 | chr18 | TogoVar |