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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IGSF21_chr1_18102798_18383483 | 18273458 | C | CTTTCTCT others(42): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0208 | 1 | 230 | 0.0043 | 49 | c.184 others(68): Show |
IGSF21 | ENSG00000117154.12 | transcript | ENST00000251296.4 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
IGSF21_chr1_18102798_18383483 | 18359393 | A | AGGAAGGA others(42): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 242 | 0.0041 | 49 | c.425 others(66): Show |
IGSF21 | ENSG00000117154.12 | transcript | ENST00000251296.4 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
IHO1_chr3_49194498_49263106 | 49200498 | A | AGGAAGGA others(42): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0025 | 1 | 189 | 0.0053 | 49 | c.-16 others(64): Show |
IHO1 | ENSG00000173421.17 | transcript | ENST00000452691.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IL15_chr4_141631583_141738987 | 141691106 | T | TGTATGAC others(42): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(203): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0010 others(197): Show |
206 | 251 | 0.8207 | 49 | c.-99 others(68): Show |
IL15 | ENSG00000164136.17 | transcript | ENST00000320650.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
IL15_chr4_141631583_141738987 | 141691106 | T | TGTATGAC others(42): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01099.hp1 HG01106.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0016 | a0001c0001t0001g0054 a0001c0001t0002g0001 a0001c0001t0002g0024 others(30): Show |
35 | 80 | 0.4375 | 49 | c.-99 others(68): Show |
IL15 | ENSG00000164136.17 | transcript | ENST00000320650.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
IL17RD_chr3_57084982_57170353 | 57105552 | A | AAAAAAAA others(42): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0003 | a0002c0003t0012 | a0002c0003t0012g0221 | 1 | 174 | 0.0057 | 49 | c.747 others(64): Show |
IL17RD | ENSG00000144730.19 | transcript | ENST00000296318.12 | protein_coding | 7/12 | chr3 | TogoVar | |||||||
IL1RAPL1_chrX_28582446_29961718 | 29335273 | C | CGGAGAGG others(42): Show |
intron_variant | MODIFIER | HG02735.hp1 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0087 a0001c0001t0005g0126 |
2 | 95 | 0.0211 | 49 | c.362 others(68): Show |
IL1RAPL1 | ENSG00000169306.11 | transcript | ENST00000378993.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL2RA_chr10_6005689_6067367 | 6055839 | T | TCCCCCCA others(42): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01243.hp2 HG01255.hp2 others(31): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 others(28): Show |
34 | 411 | 0.0827 | 49 | c.64+ others(64): Show |
IL2RA | ENSG00000134460.19 | transcript | ENST00000379959.8 | protein_coding | 1/7 | chr10 | TogoVar | |||||||
IL31RA_chr5_55846357_55927850 | 55897000 | A | AAAAAAAA others(42): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0163 | 1 | 192 | 0.0052 | 49 | c.852 others(64): 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(42): Show |
intron_variant | MODIFIER | NA18992.hp1 NA20752.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0005 | a0002c0002t0001g0012 a0002c0002t0005g0086 |
2 | 16 | 0.1250 | 49 | c.852 others(64): 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(42): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02451.hp2 HG04204.hp2 others(1): Show |
a0001a0002a0003 | a0001c0003a0001c0005a0002c0002others(1): Show | a0001c0003t0010a0001c0005t0011a0002c0002t0005others(1): Show | a0001c0003t0010g0129 a0001c0005t0011g0106 a0002c0002t0005g0087 others(1): Show |
4 | 18 | 0.2222 | 49 | c.852 others(64): 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(42): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0010 | a0010c0017 | a0010c0017t0035 | a0010c0017t0035g0047 | 1 | 15 | 0.0667 | 49 | c.852 others(64): 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(42): Show |
intron_variant | MODIFIER | NA18987.hp2 | a0002 | a0002c0002 | a0002c0002t0035 | a0002c0002t0035g0141 | 1 | 15 | 0.0667 | 49 | c.852 others(64): Show |
IL31RA | ENSG00000164509.16 | transcript | ENST00000652347.2 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IL33_chr9_6210807_6262983 | 6218907 | T | TATATGTT others(42): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0029 | 2 | 342 | 0.0058 | 49 | c.-12 others(66): Show |
IL33 | ENSG00000137033.12 | transcript | ENST00000682010.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1366926 | C | CGGGGGTT others(42): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0057 | 1 | 111 | 0.0090 | 49 | c.874 others(66): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL9R_chrX_155992696_156015817 | 156009322 | A | ATGTCTGT others(42): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0097 | 1 | 218 | 0.0046 | 49 | c.973 others(64): Show |
IL9R | ENSG00000124334.18 | transcript | ENST00000244174.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
INPP5B_chr1_37855697_37952053 | 37941958 | A | AAAAAAAA others(42): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0311 | 1 | 72 | 0.0139 | 49 | c.281 others(66): Show |
INPP5B | ENSG00000204084.14 | transcript | ENST00000373024.8 | protein_coding | 5/23 | chr1 | TogoVar | |||||||
INPP5B_chr1_37855697_37952053 | 37941958 | A | AAAAAAAA others(42): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0037 | 1 | 72 | 0.0139 | 49 | c.281 others(66): Show |
INPP5B | ENSG00000204084.14 | transcript | ENST00000373024.8 | protein_coding | 5/23 | chr1 | TogoVar | |||||||
INPP5F_chr10_119721050_119834147 | 119722305 | T | TGGGGGTC others(42): Show |
upstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0314 | 1 | 311 | 0.0032 | 49 | c.-39 others(60): Show |
INPP5F | ENSG00000198825.15 | transcript | ENST00000650623.2 | protein_coding | 3744 | chr10 | TogoVar | |||||||
INPP5F_chr10_119721050_119834147 | 119722370 | C | CGCCCGGC others(42): Show |
upstream_gene_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0313 | 1 | 324 | 0.0031 | 49 | c.-38 others(60): Show |
INPP5F | ENSG00000198825.15 | transcript | ENST00000650623.2 | protein_coding | 3679 | chr10 | TogoVar | |||||||
INSC_chr11_15109923_15252208 | 15113143 | T | TTCTTTCT others(42): Show |
upstream_gene_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 146 | 0.0068 | 49 | c.-19 others(60): Show |
INSC | ENSG00000188487.12 | transcript | ENST00000379556.8 | protein_coding | 1779 | chr11 | TogoVar | |||||||
INTS11_chr1_1306600_1329660 | 1324172 | G | GGGGCTCG others(42): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0116 | 1 | 128 | 0.0078 | 49 | c.28+ others(62): Show |
INTS11 | ENSG00000127054.22 | transcript | ENST00000435064.6 | protein_coding | 1/16 | chr1 | TogoVar | |||||||
INTS9_chr8_28762661_28894969 | 28881476 | A | AGGGGGGG others(42): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0351 | 1 | 50 | 0.0200 | 49 | c.9+8 others(62): Show |
INTS9 | ENSG00000104299.15 | transcript | ENST00000521022.6 | protein_coding | 1/16 | chr8 | TogoVar | |||||||
INTS9_chr8_28762661_28894969 | 28881674 | C | CCGGCCAG others(42): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0006 | 1 | 352 | 0.0028 | 49 | c.9+8 others(62): Show |
INTS9 | ENSG00000104299.15 | transcript | ENST00000521022.6 | protein_coding | 1/16 | chr8 | TogoVar | |||||||
IPO7_chr11_9379652_9453127 | 9397341 | A | AAAAAAAA others(42): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 25 | 0.0400 | 49 | c.85- others(64): 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(42): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 25 | 0.0400 | 49 | c.85- others(64): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
IQCK_chr16_19713271_19863467 | 19855605 | A | ATGATGTA others(42): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0179 | 1 | 242 | 0.0041 | 49 | c.803 others(64): Show |
IQCK | ENSG00000174628.17 | transcript | ENST00000695302.1 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
IRAG1_chr11_10568095_10698755 | 10680364 | A | AAGAAAGA others(42): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0002 | a0002c0003 | a0002c0003t0016 | a0002c0003t0016g0082 | 1 | 273 | 0.0037 | 49 | c.67+ others(66): Show |
IRAG1 | ENSG00000072952.21 | transcript | ENST00000423302.7 | protein_coding | 1/20 | chr11 | TogoVar | |||||||
IRAG2_chr12_25047706_25113335 | 25085739 | T | TCCCATAT others(42): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02055.hp1 HG02451.hp1 others(4): Show |
a0002a0003a0005 | a0002c0002a0003c0003a0005c0006 | a0002c0002t0001a0003c0003t0001a0005c0006t0001 | a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0160 others(4): Show |
7 | 329 | 0.0213 | 49 | c.315 others(66): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IRS2_chr13_109747695_109791583 | 109765490 | A | ACTCCAAC others(42): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01891.hp1 HG01943.hp1 others(21): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0015a0001c0001t0024a0001c0001t0039others(15): Show | a0001c0001t0015g0105 a0001c0001t0024g0123 a0001c0001t0024g0125 others(21): Show |
24 | 383 | 0.0627 | 49 | c.401 others(68): Show |
IRS2 | ENSG00000185950.9 | transcript | ENST00000375856.5 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
IRS2_chr13_109747695_109791583 | 109766078 | A | ACTCCGAC others(42): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02257.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0024a0001c0001t0039a0001c0003t0008others(8): Show | a0001c0001t0024g0123 a0001c0001t0024g0125 a0001c0001t0039g0124 others(12): Show |
15 | 369 | 0.0407 | 49 | c.401 others(68): Show |
IRS2 | ENSG00000185950.9 | transcript | ENST00000375856.5 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
IRS2_chr13_109747695_109791583 | 109766372 | A | ACTCCAAC others(42): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02145.hp1 HG02257.hp1 others(11): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0024a0001c0003t0008a0001c0004t0008others(7): Show | a0001c0001t0024g0123 a0001c0001t0024g0125 a0001c0003t0008g0160 others(11): Show |
14 | 356 | 0.0393 | 49 | c.401 others(70): Show |
IRS2 | ENSG00000185950.9 | transcript | ENST00000375856.5 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
IRS2_chr13_109747695_109791583 | 109766568 | G | GCTCCGAC others(42): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02922.hp1 |
a0001 | a0001c0001a0001c0022 | a0001c0001t0039a0001c0022t0040 | a0001c0001t0039g0124 a0001c0022t0040g0236 |
2 | 257 | 0.0078 | 49 | c.401 others(70): Show |
IRS2 | ENSG00000185950.9 | transcript | ENST00000375856.5 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
IRS2_chr13_109747695_109791583 | 109766712 | C | CTGACTCC others(42): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0007 | a0001c0007t0011 | a0001c0007t0011g0052 | 1 | 253 | 0.0040 | 49 | c.401 others(70): Show |
IRS2 | ENSG00000185950.9 | transcript | ENST00000375856.5 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
ITGA11_chr15_68291532_68437163 | 68396935 | T | TAATATAT others(42): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01167.hp2 HG02056.hp1 others(6): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0003c0004others(4): Show | a0001c0001t0001a0001c0002t0003a0001c0002t0034others(5): Show | a0001c0001t0001g0067 a0001c0002t0003g0005 a0001c0002t0034g0077 others(6): Show |
9 | 48 | 0.1875 | 49 | c.164 others(66): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | |||||||
ITGA11_chr15_68291532_68437163 | 68400754 | T | TAATATTA others(42): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0220 | 1 | 231 | 0.0043 | 49 | c.164 others(66): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | |||||||
ITGA11_chr15_68291532_68437163 | 68400809 | T | TAATATTA others(42): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03471.hp1 |
a0001a0019 | a0001c0006a0019c0049 | a0001c0006t0003a0019c0049t0006 | a0001c0006t0003g0228 a0019c0049t0006g0240 |
2 | 230 | 0.0087 | 49 | c.164 others(66): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | |||||||
ITGAM_chr16_31254975_31337877 | 31270126 | C | CTCCTTTG others(42): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01516.hp1 HG02683.hp1 others(1): Show |
a0002a0004 | a0002c0003a0004c0006 | a0002c0003t0003a0004c0006t0003 | a0002c0003t0003g0037 a0002c0003t0003g0038 a0004c0006t0003g0005 others(1): Show |
4 | 210 | 0.0190 | 49 | c.428 others(64): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGB3BP_chr1_63435770_63528225 | 63473815 | C | CGGCCAGC others(42): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01516.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0086 a0001c0001t0001g0098 |
5 | 370 | 0.0135 | 49 | c.254 others(66): Show |
ITGB3BP | ENSG00000142856.17 | transcript | ENST00000271002.15 | protein_coding | 4/8 | chr1 | TogoVar | |||||||
JAKMIP1_chr4_6021199_6205549 | 6067662 | A | ACCCCCCT others(42): Show |
intron_variant | MODIFIER | HG03516.hp2 HG03579.hp2 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0003a0001c0013t0001 | a0001c0001t0003g0197 a0001c0013t0001g0055 |
2 | 222 | 0.0090 | 49 | c.130 others(68): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 8/20 | chr4 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132160496 | G | GGGGGGCC others(42): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0026 | a0002c0026t0025 | a0002c0026t0025g0043 | 1 | 146 | 0.0068 | 49 | c.222 others(68): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132160893 | G | GGGAGCCT others(42): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01243.hp2 |
a0002 | a0002c0005a0002c0037 | a0002c0005t0001a0002c0037t0001 | a0002c0005t0001g0016 a0002c0037t0001g0140 |
2 | 143 | 0.0140 | 49 | c.222 others(68): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | chr10 | TogoVar | |||||||
JARID2_chr6_15241069_15527042 | 15415619 | T | TCGGGGCG others(42): Show |
intron_variant | MODIFIER | HG02129.hp1 HG03239.hp2 HG03710.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0007others(2): Show | a0001c0002t0001g0073 a0001c0002t0001g0088 a0001c0002t0001g0128 others(9): Show |
12 | 162 | 0.0741 | 49 | c.323 others(66): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
JAZF1_chr7_27825577_28185795 | 28110504 | A | AAAGGAAA others(42): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 153 | 0.0065 | 49 | c.115 others(68): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
JDP2_chr14_75423022_75479107 | 75429879 | A | AGGGCTGC others(42): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0036 | 2 | 356 | 0.0056 | 49 | c.-24 others(66): Show |
JDP2 | ENSG00000140044.13 | transcript | ENST00000651602.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
JPH2_chr20_44101590_44192188 | 44134863 | T | TAAATATA others(42): Show |
intron_variant | MODIFIER | HG00408.hp1 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0133 a0001c0001t0009g0134 |
2 | 336 | 0.0060 | 49 | c.117 others(70): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
JPH3_chr16_87597508_87703156 | 87614267 | C | CGCAGGCC others(42): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0046 | a0001c0046t0001 | a0001c0046t0001g0148 | 1 | 377 | 0.0027 | 49 | c.382 others(68): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
JPH3_chr16_87597508_87703156 | 87614268 | A | ACAGGCCC others(42): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(200): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(31): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(62): Show | a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 others(199): Show |
203 | 295 | 0.6881 | 49 | c.382 others(68): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
JPH3_chr16_87597508_87703156 | 87614268 | A | ACAGGTCC others(42): Show |
intron_variant | MODIFIER | HG02129.hp1 NA18982.hp2 NA20129.hp2 |
a0001a0010 | a0001c0001a0001c0003a0010c0045 | a0001c0001t0001a0001c0003t0001a0010c0045t0001 | a0001c0001t0001g0275 a0001c0003t0001g0332 a0010c0045t0001g0333 |
3 | 95 | 0.0316 | 49 | c.382 others(68): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
JPH3_chr16_87597508_87703156 | 87614268 | A | ACAGGTCC others(42): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0054 | 1 | 93 | 0.0108 | 49 | c.382 others(68): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |