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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
POLR1A_chr2_86015216_86110886 | 86097214 | C | CAAAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG01070.hp1 HG01167.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0017others(1): Show | a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0180 others(20): Show |
23 | 91 | 0.2527 | 7 | c.432 others(24): Show |
POLR1A | ENSG00000068654.17 | transcript | ENST00000263857.11 | protein_coding | 3/33 | chr2 | TogoVar | |||||||
POLR2D_chr2_127838553_127863155 | 127845373 | C | CTTTTTTT | 3_prime_UTR_variant | MODIFIER | HG00642.hp2 HG00733.hp2 HG01243.hp2 others(14): Show |
a0001 | a0001c0003 | a0001c0003t0015a0001c0003t0024a0001c0003t0025others(7): Show | a0001c0003t0015g0031 a0001c0003t0015g0130 a0001c0003t0015g0132 others(11): Show |
17 | 205 | 0.0829 | 7 | c.*27 others(18): Show |
POLR2D | ENSG00000144231.11 | transcript | ENST00000272645.9 | protein_coding | 4/4 | 2733 | chr2 | TogoVar | ||||||
POLR2I_chr19_36108709_36119875 | 36116833 | C | CCAACATG | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01074.hp1 HG01109.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 36 | 436 | 0.0826 | 7 | c.-19 others(18): Show |
POLR2I | ENSG00000105258.9 | transcript | ENST00000221859.9 | protein_coding | 1959 | chr19 | TogoVar | |||||||
POLR2J2_chr7_102661046_102676663 | 102676197 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG02723.hp2 HG02965.hp1 HG03486.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0001 | a0001c0001t0001g0006 a0003c0006t0001g0011 |
4 | 10 | 0.4000 | 7 | c.-45 others(18): Show |
POLR2J2 | ENSG00000228049.8 | transcript | ENST00000333432.9 | protein_coding | 4535 | chr7 | TogoVar | |||||||
POLR2J3_chr7_102561966_102577583 | 102572754 | C | CCACCCCG | upstream_gene_variant | MODIFIER | NA18946.hp2 NA18964.hp2 NA18973.hp1 others(2): Show |
a0002a0006 | a0002c0004a0006c0009 | a0002c0004t0001a0006c0009t0001 | a0002c0004t0001g0010 a0002c0004t0001g0030 a0002c0004t0001g0032 others(1): Show |
5 | 68 | 0.0735 | 7 | c.-23 others(16): Show |
POLR2J3 | ENSG00000285437.2 | transcript | ENST00000621093.5 | protein_coding | 172 | chr7 | TogoVar | |||||||
POLR2J_chr7_102468128_102483922 | 102481214 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01358.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(5): Show |
17 | 121 | 0.1405 | 7 | c.-23 others(18): Show |
POLR2J | ENSG00000005075.16 | transcript | ENST00000292614.10 | protein_coding | 2293 | chr7 | TogoVar | |||||||
POLR3D_chr8_22240133_22259601 | 22241876 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG01358.hp2 HG01928.hp1 HG02683.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0034 a0001c0001t0002g0041 others(3): Show |
8 | 128 | 0.0625 | 7 | c.-33 others(18): Show |
POLR3D | ENSG00000168495.13 | transcript | ENST00000306433.9 | protein_coding | 3256 | chr8 | TogoVar | |||||||
POLR3E_chr16_22292409_22340096 | 22303639 | C | CTTTTTTT | intron_variant | MODIFIER | HG00741.hp1 HG01109.hp2 HG01257.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 a0001c0001t0003g0050 a0001c0001t0003g0051 others(24): Show |
29 | 270 | 0.1074 | 7 | c.36+ others(20): Show |
POLR3E | ENSG00000058600.16 | transcript | ENST00000299853.10 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
POLR3GL_chr1_145959690_145983848 | 145971989 | A | ATATATAT | intron_variant | MODIFIER | HG02896.hp1 HG03486.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0217 |
3 | 336 | 0.0089 | 7 | c.-41 others(24): Show |
POLR3GL | ENSG00000121851.13 | transcript | ENST00000369314.2 | protein_coding | 1/7 | chr1 | TogoVar | |||||||
POLR3H_chr22_41520799_41549470 | 41544436 | A | ACGCACCG | 5_prime_UTR_variant | MODIFIER | HG02257.hp1 HG02970.hp1 HG03209.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0010a0001c0003t0010 | a0001c0001t0010g0042 a0001c0001t0010g0181 a0001c0001t0010g0183 others(1): Show |
5 | 78 | 0.0641 | 7 | c.-34 others(16): Show |
POLR3H | ENSG00000100413.17 | transcript | ENST00000355209.9 | protein_coding | 1/6 | 336 | chr22 | TogoVar | ||||||
POLR3K_chr16_41407_58608 | 46744 | A | AAATAAAT | 3_prime_UTR_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG00621.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0008 others(7): Show |
14 | 329 | 0.0426 | 7 | c.*68 others(16): Show |
POLR3K | ENSG00000161980.6 | transcript | ENST00000293860.6 | protein_coding | 3/3 | 685 | chr16 | TogoVar | ||||||
POLR3K_chr16_41407_58608 | 52765 | C | CAAAAAAA | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 HG01952.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0010 | a0001c0001t0002g0041 a0001c0001t0002g0115 a0001c0001t0002g0116 others(6): Show |
13 | 326 | 0.0399 | 7 | c.111 others(22): Show |
POLR3K | ENSG00000161980.6 | transcript | ENST00000293860.6 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
POLR3K_chr16_41407_58608 | 53781 | A | ACCCCCCC | upstream_gene_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG01069.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0025 a0001c0001t0002g0040 a0001c0001t0002g0110 others(20): Show |
27 | 383 | 0.0705 | 7 | c.-19 others(16): Show |
POLR3K | ENSG00000161980.6 | transcript | ENST00000293860.6 | protein_coding | 174 | chr16 | TogoVar | |||||||
POLRMT_chr19_612221_638537 | 626696 | C | CAAAAAAA | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG01168.hp2 others(39): Show |
a0002a0004a0007others(5): Show | a0002c0006a0004c0004a0004c0012others(10): Show | a0002c0006t0003a0004c0004t0001a0004c0004t0002others(14): Show | a0002c0006t0003g0284 a0002c0006t0003g0285 a0004c0004t0001g0035 others(39): Show |
42 | 208 | 0.2019 | 7 | c.823 others(24): Show |
POLRMT | ENSG00000099821.14 | transcript | ENST00000588649.7 | protein_coding | 3/20 | chr19 | TogoVar | |||||||
POMGNT1_chr1_46183683_46203434 | 46202920 | G | GGGGTGGT | upstream_gene_variant | MODIFIER | HG00609.hp1 HG01192.hp1 HG02258.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 7 | 243 | 0.0288 | 7 | c.-46 others(18): Show |
POMGNT1 | ENSG00000085998.15 | transcript | ENST00000371984.8 | protein_coding | 4487 | chr1 | TogoVar | |||||||
POMGNT1_chr1_46183683_46203434 | 46202920 | G | GGTGGTGT | upstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01928.hp1 others(11): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0001a0003c0004t0001 | a0001c0002t0001g0002 a0001c0002t0001g0039 a0003c0004t0001g0013 |
14 | 250 | 0.0560 | 7 | c.-46 others(18): Show |
POMGNT1 | ENSG00000085998.15 | transcript | ENST00000371984.8 | protein_coding | 4487 | chr1 | TogoVar | |||||||
POMP_chr13_28654130_28683959 | 28654886 | A | ATTTTTTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(10): Show |
41 | 90 | 0.4556 | 7 | c.-42 others(18): Show |
POMP | ENSG00000132963.9 | transcript | ENST00000380842.5 | protein_coding | 4243 | chr13 | TogoVar | |||||||
POMT1_chr9_131497918_131528799 | 131504792 | T | TGTGTGTG | intron_variant | MODIFIER | HG00673.hp2 HG00738.hp2 HG01346.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0069 others(3): Show |
10 | 326 | 0.0307 | 7 | c.122 others(22): Show |
POMT1 | ENSG00000130714.19 | transcript | ENST00000402686.8 | protein_coding | 2/19 | chr9 | TogoVar | |||||||
POMT2_chr14_77269956_77325883 | 77280704 | G | GGGAAAGA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(341): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0021 others(303): Show |
344 | 396 | 0.8687 | 7 | c.165 others(24): Show |
POMT2 | ENSG00000009830.13 | transcript | ENST00000261534.9 | protein_coding | 15/20 | chr14 | TogoVar | |||||||
POMZP3_chr7_76604986_76632279 | 76613507 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(42): Show |
a0002a0005 | a0002c0002a0002c0013a0005c0005 | a0002c0002t0004a0002c0002t0008a0002c0002t0014others(3): Show | a0002c0002t0004g0024 a0002c0002t0004g0025 a0002c0002t0004g0027 others(37): Show |
45 | 230 | 0.1957 | 7 | c.346 others(24): Show |
POMZP3 | ENSG00000146707.15 | transcript | ENST00000310842.9 | protein_coding | 4/6 | chr7 | TogoVar | |||||||
POMZP3_chr7_76604986_76632279 | 76614564 | C | CCGAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00558.hp2 others(76): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0022a0002c0002t0023others(1): Show | a0002c0002t0002g0003 a0002c0002t0002g0008 a0002c0002t0002g0015 others(66): Show |
79 | 260 | 0.3038 | 7 | c.346 others(24): Show |
POMZP3 | ENSG00000146707.15 | transcript | ENST00000310842.9 | protein_coding | 4/6 | chr7 | TogoVar | |||||||
POMZP3_chr7_76604986_76632279 | 76614858 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00597.hp1 others(83): Show |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0002a0002c0002t0004a0002c0002t0008others(3): Show | a0002c0002t0002g0003 a0002c0002t0002g0008 a0002c0002t0002g0015 others(70): Show |
86 | 247 | 0.3482 | 7 | c.346 others(24): Show |
POMZP3 | ENSG00000146707.15 | transcript | ENST00000310842.9 | protein_coding | 4/6 | chr7 | TogoVar | |||||||
POMZP3_chr7_76604986_76632279 | 76620812 | A | AAGATAAT | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00609.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0013 a0001c0001t0005g0014 a0001c0001t0005g0059 others(30): Show |
35 | 422 | 0.0829 | 7 | c.228 others(24): Show |
POMZP3 | ENSG00000146707.15 | transcript | ENST00000310842.9 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
POMZP3_chr7_76604986_76632279 | 76620861 | A | ATTTTTTT | intron_variant | MODIFIER | HG02074.hp2 NA18612.hp2 NA18949.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0002 | a0001c0001t0005g0059 a0001c0001t0005g0062 a0001c0001t0005g0075 others(6): Show |
9 | 101 | 0.0891 | 7 | c.228 others(24): Show |
POMZP3 | ENSG00000146707.15 | transcript | ENST00000310842.9 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
PON1_chr7_95292676_95329532 | 95319131 | C | CTTTTTTT | intron_variant | MODIFIER | HG01192.hp2 HG02155.hp1 HG03834.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0008a0002c0002t0001 | a0001c0001t0001g0323 a0001c0001t0008g0103 a0001c0001t0008g0106 others(3): Show |
6 | 62 | 0.0968 | 7 | c.75- others(20): Show |
PON1 | ENSG00000005421.9 | transcript | ENST00000222381.8 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
POP1_chr8_98112293_98164835 | 98151964 | G | GCTCAAGT | intron_variant | MODIFIER | HG00140.hp1 HG00733.hp1 HG00741.hp2 others(25): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0011others(6): Show | a0001c0001t0007a0002c0002t0001a0002c0002t0007others(9): Show | a0001c0001t0007g0015 a0001c0001t0007g0089 a0001c0001t0007g0090 others(24): Show |
28 | 420 | 0.0667 | 7 | c.205 others(26): Show |
POP1 | ENSG00000104356.11 | transcript | ENST00000401707.7 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
POP1_chr8_98112293_98164835 | 98153533 | C | CTTTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00735.hp2 HG01109.hp2 others(20): Show |
a0001a0006 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0167 a0001c0001t0001g0228 a0001c0001t0001g0231 others(20): Show |
23 | 143 | 0.1608 | 7 | c.205 others(26): Show |
POP1 | ENSG00000104356.11 | transcript | ENST00000401707.7 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
POP5_chr12_120573764_120586402 | 120583657 | C | CTAACACT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(307): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(22): Show |
310 | 390 | 0.7949 | 7 | c.-22 others(18): Show |
POP5 | ENSG00000167272.11 | transcript | ENST00000357500.5 | protein_coding | 2256 | chr12 | TogoVar | |||||||
POR_chr7_75910155_75991855 | 75975814 | A | ATTTTTTT | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01070.hp2 others(31): Show |
a0001a0002a0005others(1): Show | a0001c0002a0001c0003a0001c0004others(6): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0001others(7): Show | a0001c0002t0001g0033 a0001c0002t0001g0067 a0001c0002t0001g0105 others(31): Show |
34 | 72 | 0.4722 | 7 | c.228 others(24): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
POSTN_chr13_37557585_37603768 | 37557762 | A | AACAAAAC | downstream_gene_variant | MODIFIER | NA18960.hp1 NA18963.hp1 NA18964.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0055 a0001c0001t0001g0060 others(3): Show |
8 | 370 | 0.0216 | 7 | c.*55 others(18): Show |
POSTN | ENSG00000133110.15 | transcript | ENST00000379747.9 | protein_coding | 4822 | chr13 | TogoVar | |||||||
POT1_chr7_124817386_124934825 | 124933698 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG02818.hp1 HG02897.hp1 HG02976.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0016 a0001c0001t0001g0105 a0001c0001t0001g0319 others(5): Show |
9 | 125 | 0.0720 | 7 | c.-43 others(18): Show |
POT1 | ENSG00000128513.16 | transcript | ENST00000357628.8 | protein_coding | 3874 | chr7 | TogoVar | |||||||
POTED_chr21_13604777_13650823 | 13646287 | A | ACACACAC | downstream_gene_variant | MODIFIER | HG00408.hp2 HG01168.hp2 HG02132.hp2 others(23): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0005a0003c0004t0005a0003c0004t0039others(1): Show | a0001c0001t0005g0198 a0003c0004t0005g0002 a0003c0004t0005g0026 others(9): Show |
26 | 157 | 0.1656 | 7 | c.*47 others(18): Show |
POTED | ENSG00000166351.11 | transcript | ENST00000299443.6 | protein_coding | 465 | chr21 | TogoVar | |||||||
POTEE_chr2_131204536_131270278 | 131212570 | C | CTTTTTTT | intron_variant | MODIFIER | HG01167.hp1 HG01167.hp2 HG01243.hp2 others(8): Show |
a0001a0009a0017others(2): Show | a0001c0001a0001c0002a0001c0034others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(5): Show | a0001c0001t0001g0124 a0001c0001t0001g0141 a0001c0001t0003g0183 others(7): Show |
11 | 60 | 0.1833 | 7 | c.-18 others(26): Show |
POTEE | ENSG00000188219.16 | transcript | ENST00000683005.1 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
POU2F1_chr1_167215886_167432340 | 167381988 | C | CATAAAAT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(218): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(64): Show | a0001c0001t0001g0010 a0001c0001t0001g0120 a0001c0001t0001g0121 others(218): Show |
221 | 290 | 0.7621 | 7 | c.719 others(24): Show |
POU2F1 | ENSG00000143190.23 | transcript | ENST00000367866.7 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
POU2F3_chr11_120235140_120324945 | 120288128 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00733.hp2 HG00738.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0006g0303 a0001c0001t0006g0307 a0001c0001t0006g0308 others(8): Show |
11 | 100 | 0.1100 | 7 | c.133 others(26): Show |
POU2F3 | ENSG00000137709.10 | transcript | ENST00000543440.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
POU2F3_chr11_120235140_120324945 | 120304330 | C | CAAAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG00642.hp2 others(16): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0003a0005c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0022 a0001c0001t0001g0092 a0001c0001t0001g0100 others(16): Show |
19 | 197 | 0.0964 | 7 | c.445 others(22): Show |
POU2F3 | ENSG00000137709.10 | transcript | ENST00000543440.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
POU2F3_chr11_120235140_120324945 | 120304339 | A | AAAAAAAG | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG00738.hp2 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0190 a0001c0001t0001g0209 a0001c0001t0001g0218 others(22): Show |
25 | 197 | 0.1269 | 7 | c.445 others(22): Show |
POU2F3 | ENSG00000137709.10 | transcript | ENST00000543440.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
POU5F1B_chr8_127410867_127421946 | 127417210 | A | AAAGAAAG | downstream_gene_variant | MODIFIER | HG01099.hp1 NA18950.hp1 NA18967.hp1 others(3): Show |
a0003a0005 | a0003c0003a0005c0005 | a0003c0003t0001a0005c0005t0001 | a0003c0003t0001g0000 a0005c0005t0001g0000 |
6 | 265 | 0.0226 | 7 | c.*26 others(16): Show |
POU5F1B | ENSG00000212993.6 | transcript | ENST00000696633.1 | protein_coding | 265 | chr8 | TogoVar | |||||||
POU5F2_chr5_93728220_93746600 | 93744434 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG01168.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 others(4): Show |
23 | 233 | 0.0987 | 7 | c.-28 others(18): Show |
POU5F2 | ENSG00000248483.7 | transcript | ENST00000606183.4 | protein_coding | 2835 | chr5 | TogoVar | |||||||
POU6F2_chr7_38972909_39473601 | 38974338 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01071.hp2 HG01074.hp2 others(46): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0039 a0001c0001t0001g0165 a0001c0001t0002g0032 others(46): Show |
49 | 55 | 0.8909 | 7 | c.-36 others(18): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 3570 | chr7 | TogoVar | |||||||
POU6F2_chr7_38972909_39473601 | 39015925 | A | ATATATAT | intron_variant | MODIFIER | HG00639.hp2 HG01256.hp1 HG02300.hp1 others(4): Show |
a0001a0002a0009 | a0001c0001a0002c0003a0009c0015 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0003g0027 others(4): Show |
7 | 168 | 0.0417 | 7 | c.105 others(26): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
POU6F2_chr7_38972909_39473601 | 39297190 | T | TCACATAC | intron_variant | MODIFIER | HG01243.hp1 HG03491.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0095 a0001c0001t0007g0079 |
2 | 134 | 0.0149 | 7 | c.599 others(26): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 4/9 | chr7 | TogoVar | |||||||
POU6F2_chr7_38972909_39473601 | 39441365 | T | TTGAGTCG | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00621.hp1 others(78): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0005a0001c0007others(9): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0014others(27): Show | a0001c0002t0001g0012 a0001c0002t0001g0016 a0001c0002t0001g0031 others(78): Show |
81 | 168 | 0.4821 | 7 | c.132 others(26): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PPA2_chr4_105364077_105479062 | 105390307 | T | TAAGTGGG | intron_variant | MODIFIER | HG02723.hp1 HG02809.hp1 HG02818.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 a0001c0001t0002g0044 a0001c0001t0002g0084 others(7): Show |
11 | 364 | 0.0302 | 7 | c.870 others(24): Show |
PPA2 | ENSG00000138777.20 | transcript | ENST00000341695.10 | protein_coding | 9/11 | chr4 | TogoVar | |||||||
PPA2_chr4_105364077_105479062 | 105450601 | C | CTTTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00544.hp1 others(36): Show |
a0002a0007 | a0002c0002a0002c0003a0007c0012 | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(2): Show | a0002c0002t0001g0011 a0002c0002t0001g0039 a0002c0002t0001g0219 others(35): Show |
39 | 101 | 0.3861 | 7 | c.268 others(24): Show |
PPA2 | ENSG00000138777.20 | transcript | ENST00000341695.10 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
PPAN_chr19_10101362_10117012 | 10104317 | G | GTGTGTGT | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02572.hp2 HG02976.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0010 | a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0002t0001g0001 others(1): Show |
5 | 166 | 0.0301 | 7 | c.-20 others(18): Show |
PPAN | ENSG00000130810.20 | transcript | ENST00000253107.12 | protein_coding | 2044 | chr19 | TogoVar | |||||||
PPARA_chr22_46145526_46248755 | 46146441 | G | GAAGAGAA | upstream_gene_variant | MODIFIER | HG02818.hp1 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0043 | a0001c0001t0015g0058 a0001c0001t0043g0050 |
2 | 198 | 0.0101 | 7 | c.-44 others(18): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 4084 | chr22 | TogoVar | |||||||
PPARA_chr22_46145526_46248755 | 46150004 | C | CGGTCCCG | upstream_gene_variant | MODIFIER | HG01106.hp2 HG01167.hp1 HG01169.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(10): Show | a0001c0001t0001g0039 a0001c0001t0001g0186 a0001c0001t0001g0189 others(14): Show |
17 | 198 | 0.0859 | 7 | c.-85 others(16): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 521 | chr22 | TogoVar | |||||||
PPARA_chr22_46145526_46248755 | 46198237 | C | CAAAAAAA | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG01169.hp2 others(26): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0193 others(26): Show |
29 | 149 | 0.1946 | 7 | c.-42 others(20): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PPARGC1A_chr4_23787021_23895047 | 23857373 | G | GTGTGTGT | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00741.hp1 others(34): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0003a0001c0001t0009a0001c0001t0011others(18): Show | a0001c0001t0003g0171 a0001c0001t0009g0268 a0001c0001t0011g0035 others(34): Show |
37 | 280 | 0.1321 | 7 | c.235 others(26): Show |
PPARGC1A | ENSG00000109819.9 | transcript | ENST00000264867.7 | protein_coding | 2/12 | chr4 | TogoVar |