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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IL31RA_chr5_55846357_55927850 | 55897015 | A | ATATATAT others(44): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0236 | 1 | 322 | 0.0031 | 51 | c.852 others(66): Show |
IL31RA | ENSG00000164509.16 | transcript | ENST00000652347.2 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
IL31RA_chr5_55846357_55927850 | 55897015 | A | ATATATAT others(44): Show |
intron_variant | MODIFIER | HG03195.hp1 HG03579.hp1 |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0005a0003c0004t0017 | a0002c0002t0005g0029a0003c0004t0017g0315 | 2 | 322 | 0.0062 | 51 | c.852 others(66): Show |
IL31RA | ENSG00000164509.16 | transcript | ENST00000652347.2 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
IL33_chr9_6210807_6262983 | 6218844 | T | TATATATA others(44): Show |
intron_variant | MODIFIER | HG02896.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 2 | 362 | 0.0055 | 51 | c.-12 others(68): Show |
IL33 | ENSG00000137033.12 | transcript | ENST00000682010.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
IL36B_chr2_113017089_113057867 | 113017625 | G | GGAAGAAG others(44): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 HG01952.hp2 HG02074.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025a0001c0001t0002g0041a0001c0001t0002g0132others(3): Show | 6 | 404 | 0.0149 | 51 | c.*50 others(62): Show |
IL36B | ENSG00000136696.11 | transcript | ENST00000259213.9 | protein_coding | 4463 | chr2 | TogoVar | ||||||
IL36B_chr2_113017089_113057867 | 113017625 | G | GGAAGAAG others(44): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0142 | 1 | 404 | 0.0025 | 51 | c.*50 others(62): Show |
IL36B | ENSG00000136696.11 | transcript | ENST00000259213.9 | protein_coding | 4463 | chr2 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132606226 | A | AGGGTCCT others(44): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0005 | a0001c0005t0018 | a0001c0005t0018g0038 | 1 | 204 | 0.0049 | 51 | c.76- others(66): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
INPP5A_chr10_132532787_132788480 | 132606226 | A | AGGGTCCT others(44): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0203 | 1 | 204 | 0.0049 | 51 | c.76- others(66): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
INPP5A_chr10_132532787_132788480 | 132606323 | C | CCTGCCGG others(44): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02015.hp2 HG04199.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(3): Show | 6 | 204 | 0.0294 | 51 | c.76- others(66): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
INPP5A_chr10_132532787_132788480 | 132718911 | G | GCTGTCTT others(44): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030a0001c0001t0002g0031a0001c0001t0002g0093 | 3 | 204 | 0.0147 | 51 | c.648 others(68): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
INPP5A_chr10_132532787_132788480 | 132764505 | T | TGTGGTGA others(44): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0184 | 1 | 204 | 0.0049 | 51 | c.904 others(68): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
INPP5A_chr10_132532787_132788480 | 132764528 | T | TCGGGCCA others(44): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0204 | 1 | 204 | 0.0049 | 51 | c.904 others(68): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
INPP5A_chr10_132532787_132788480 | 132775127 | G | GAGATGGG others(44): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03098.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0185a0001c0005t0001g0186 | 2 | 204 | 0.0098 | 51 | c.978 others(68): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | chr10 | TogoVar | ||||||
INTS1_chr7_1465277_1509389 | 1489311 | T | TCCCGGGC others(44): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(307): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0002a0001c0003others(47): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(55): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(222): Show | 310 | 316 | 0.9810 | 51 | c.231 others(66): Show |
INTS1 | ENSG00000164880.16 | transcript | ENST00000404767.8 | protein_coding | 18/47 | chr7 | TogoVar | ||||||
INTS1_chr7_1465277_1509389 | 1489311 | T | TCCCGGGC others(44): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 316 | 0.0032 | 51 | c.231 others(66): Show |
INTS1 | ENSG00000164880.16 | transcript | ENST00000404767.8 | protein_coding | 18/47 | chr7 | TogoVar | ||||||
INTS1_chr7_1465277_1509389 | 1489311 | T | TCCCGGGC others(44): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02622.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034a0001c0001t0001g0218 | 3 | 316 | 0.0095 | 51 | c.231 others(66): Show |
INTS1 | ENSG00000164880.16 | transcript | ENST00000404767.8 | protein_coding | 18/47 | chr7 | TogoVar | ||||||
INTS1_chr7_1465277_1509389 | 1489324 | G | GAGGGGAC others(44): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0076 | 1 | 316 | 0.0032 | 51 | c.231 others(66): Show |
INTS1 | ENSG00000164880.16 | transcript | ENST00000404767.8 | protein_coding | 18/47 | chr7 | TogoVar | ||||||
IPO11_chr5_62407763_62633582 | 62598527 | T | TTTCTTTC others(44): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 330 | 0.0030 | 51 | c.267 others(70): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 28/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
IPO7_chr11_9379652_9453127 | 9397341 | A | AAAAAAAA others(44): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0012 | 1 | 314 | 0.0032 | 51 | c.85- others(66): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
IPO7_chr11_9379652_9453127 | 9397341 | A | AAAAAAAA others(44): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 314 | 0.0032 | 51 | c.85- others(66): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
IQCA1_chr2_236319151_236512476 | 236356970 | T | TATATATA others(44): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0013 | a0002c0013t0002 | a0002c0013t0002g0158 | 1 | 208 | 0.0048 | 51 | c.186 others(70): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 15/18 | chr2 | TogoVar | ||||||
IQCE_chr7_2553979_2619728 | 2577482 | A | ACGCATTG others(44): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 416 | 0.0024 | 51 | c.466 others(66): Show |
IQCE | ENSG00000106012.19 | transcript | ENST00000402050.7 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
IQCE_chr7_2553979_2619728 | 2577509 | T | TGCGGGGA others(44): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01069.hp2 HG01891.hp2 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0030 | a0001c0003t0001g0265a0001c0003t0001g0279a0001c0003t0030g0048 | 3 | 416 | 0.0072 | 51 | c.466 others(66): Show |
IQCE | ENSG00000106012.19 | transcript | ENST00000402050.7 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
IQCE_chr7_2553979_2619728 | 2577788 | A | ACGCATTG others(44): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00597.hp2 others(59): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0019others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0016others(13): Show | a0001c0001t0001g0205a0001c0001t0001g0206a0001c0001t0001g0207others(59): Show | 62 | 416 | 0.1490 | 51 | c.466 others(66): Show |
IQCE | ENSG00000106012.19 | transcript | ENST00000402050.7 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
IQCE_chr7_2553979_2619728 | 2577949 | T | TCGTGTGC others(44): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0049 | a0002c0049t0073 | a0002c0049t0073g0054 | 1 | 416 | 0.0024 | 51 | c.466 others(66): Show |
IQCE | ENSG00000106012.19 | transcript | ENST00000402050.7 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
IQCE_chr7_2553979_2619728 | 2577957 | G | GTGGCTGT others(44): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00558.hp2 others(92): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0019others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0016others(26): Show | a0001c0001t0001g0205a0001c0001t0001g0206a0001c0001t0001g0207others(91): Show | 95 | 416 | 0.2284 | 51 | c.466 others(66): Show |
IQCE | ENSG00000106012.19 | transcript | ENST00000402050.7 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
IQCH_chr15_67249786_67506804 | 67503260 | T | TTAGAATA others(44): Show |
downstream_gene_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 276 | 0.0036 | 51 | c.*25 others(62): Show |
IQCH | ENSG00000103599.20 | transcript | ENST00000335894.9 | protein_coding | 1457 | chr15 | TogoVar | ||||||
IQGAP3_chr1_156520405_156577565 | 156568942 | C | CTGAAAAA others(44): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 340 | 0.0029 | 51 | c.125 others(66): Show |
IQGAP3 | ENSG00000183856.11 | transcript | ENST00000361170.7 | protein_coding | 2/37 | chr1 | TogoVar | ||||||
IRAG2_chr12_25047706_25113335 | 25077374 | T | TATATATG others(44): Show |
intron_variant | MODIFIER | NA18522.hp2 NA19030.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0295a0002c0002t0001g0296 | 2 | 344 | 0.0058 | 51 | c.25- others(66): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IRF8_chr16_85894162_85927606 | 85912266 | G | GGATGCCC others(44): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 432 | 0.0023 | 51 | c.447 others(66): Show |
IRF8 | ENSG00000140968.12 | transcript | ENST00000268638.10 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ITFG2_chr12_2807668_2830076 | 2829517 | T | TAATCCAA others(44): Show |
downstream_gene_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 402 | 0.0025 | 51 | c.*53 others(62): Show |
ITFG2 | ENSG00000111203.13 | transcript | ENST00000228799.7 | protein_coding | 4442 | chr12 | TogoVar | ||||||
ITGB3BP_chr1_63435770_63528225 | 63472443 | T | TCCCTCTC others(44): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0290 | 1 | 374 | 0.0027 | 51 | c.254 others(68): Show |
ITGB3BP | ENSG00000142856.17 | transcript | ENST00000271002.15 | protein_coding | 4/8 | chr1 | TogoVar | ||||||
ITIH2_chr10_7698316_7754520 | 7737840 | T | TATAATAT others(44): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0007 | a0007c0015 | a0007c0015t0001 | a0007c0015t0001g0016 | 1 | 380 | 0.0026 | 51 | c.195 others(68): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ITIH2_chr10_7698316_7754520 | 7737840 | T | TATAATAT others(44): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 380 | 0.0026 | 51 | c.195 others(68): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ITIH2_chr10_7698316_7754520 | 7738255 | T | TATATTAT others(44): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 380 | 0.0026 | 51 | c.195 others(68): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JADE1_chr4_128804700_128880224 | 128815120 | G | GCTCCCTG others(44): Show |
intron_variant | MODIFIER | NA19030.hp2 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0026 | a0001c0001t0003g0228a0001c0001t0026g0230 | 2 | 278 | 0.0072 | 51 | c.-27 others(68): Show |
JADE1 | ENSG00000077684.16 | transcript | ENST00000226319.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
JAG2_chr14_105135995_105173776 | 105161751 | C | CGTCCTTC others(44): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01106.hp1 HG01358.hp1 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0029a0003c0003t0003g0119a0003c0003t0003g0120others(2): Show | 6 | 364 | 0.0165 | 51 | c.418 others(68): Show |
JAG2 | ENSG00000184916.9 | transcript | ENST00000331782.8 | protein_coding | 2/25 | chr14 | TogoVar | ||||||
JAG2_chr14_105135995_105173776 | 105161798 | T | TCCCTGTC others(44): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(91): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0009others(18): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(24): Show | a0001c0001t0001g0123a0001c0001t0001g0124a0001c0001t0001g0125others(67): Show | 94 | 364 | 0.2582 | 51 | c.418 others(68): Show |
JAG2 | ENSG00000184916.9 | transcript | ENST00000331782.8 | protein_coding | 2/25 | chr14 | TogoVar | ||||||
JAKMIP2_chr5_147580438_147787728 | 147764943 | A | AAAGAAAG others(44): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0085 | 1 | 250 | 0.0040 | 51 | c.-14 others(72): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 1/21 | chr5 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132159691 | T | TGGGGGCA others(44): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0108 | 1 | 158 | 0.0063 | 51 | c.222 others(70): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132159900 | G | GGCCTCTC others(44): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0004 | a0004c0009 | a0004c0009t0002 | a0004c0009t0002g0059 | 1 | 158 | 0.0063 | 51 | c.222 others(70): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132160140 | T | TCTATTCC others(44): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0056 | 1 | 158 | 0.0063 | 51 | c.222 others(70): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132160482 | C | CGCTGTGT others(44): Show |
intron_variant | MODIFIER | HG03540.hp1 NA19240.hp2 |
a0001a0002 | a0001c0001a0002c0016 | a0001c0001t0006a0002c0016t0006 | a0001c0001t0006g0006a0002c0016t0006g0099 | 2 | 158 | 0.0127 | 51 | c.222 others(70): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132160605 | G | GGTCTATT others(44): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0014 | 1 | 158 | 0.0063 | 51 | c.222 others(70): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132160626 | G | GGGGGGGC others(44): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0034 | 1 | 158 | 0.0063 | 51 | c.222 others(70): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JARID2_chr6_15241069_15527042 | 15415619 | T | TCGGGGCG others(44): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00735.hp1 HG01071.hp1 others(23): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(7): Show | a0001c0002t0001g0056a0001c0002t0002g0028a0001c0002t0004g0035others(23): Show | 26 | 284 | 0.0916 | 51 | c.323 others(68): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
JARID2_chr6_15241069_15527042 | 15415637 | C | CGGGGGGC others(44): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 | 1 | 284 | 0.0035 | 51 | c.323 others(68): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
JARID2_chr6_15241069_15527042 | 15415647 | A | ACCCCCCC others(44): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0166 | 1 | 284 | 0.0035 | 51 | c.323 others(68): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
JARID2_chr6_15241069_15527042 | 15415697 | A | ACCCCCCC others(44): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0112 | 1 | 284 | 0.0035 | 51 | c.323 others(68): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
KANK1_chr9_499695_751103 | 504779 | C | CGCGCCCC others(44): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0010 | 1 | 254 | 0.0039 | 51 | c.-84 others(64): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KARS1_chr16_75622724_75652665 | 75627169 | A | ATACTTTT others(44): Show |
downstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 380 | 0.0026 | 51 | c.*72 others(60): Show |
KARS1 | ENSG00000065427.15 | transcript | ENST00000302445.8 | protein_coding | 554 | chr16 | TogoVar |