| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| OR6K2_chr1_158694678_158705652 | 158700284 | CAG | C | frameshift_variant | HIGH | HG01891.hp2 HG02615.hp1 HG02615.hp2 others(2): Show |
a0006 | a0006c0008 | a0006c0008t0000 | a0006c0008t0000g0000 | 5 | 462 | 0.0108 | -2 | c.367 others(9): Show |
p.Leu others(5): Show |
OR6K2 | ENSG00000196171.3 | transcript | ENST00000359610.3 | protein_coding | 1/1 | 368/975 | 367/975 | 123/324 | chr1 | TogoVar | ||
| OR6Q1_chr11_58025953_58036906 | 58031636 | AC | A | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00741.hp2 others(25): Show |
a0004 | a0004c0005 | a0004c0005t0000 | a0004c0005t0000g0000 | 28 | 416 | 0.0673 | -1 | c.685 others(4): Show |
p.Leu others(5): Show |
OR6Q1 | ENSG00000279051.5 | transcript | ENST00000302622.4 | protein_coding | 1/1 | 685/954 | 685/954 | 229/317 | chr11 | TogoVar | ||
| OR7G3_chr19_9121012_9131950 | 9126022 | G | GATGGT | frameshift_variant | HIGH | HG00280.hp2 HG00408.hp1 HG00423.hp2 others(174): Show |
a0000a0002a0003others(1): Show | a0000c0002a0000c0007a0000c0014others(3): Show | a0000c0002t0000a0000c0007t0000a0000c0014t0000others(3): Show | a0000c0002t0000g0000a0000c0007t0000g0000a0000c0014t0000g0000others(3): Show | 177 | 402 | 0.4403 | 5 | c.924 others(12): Show |
p.Ser others(5): Show |
OR7G3 | ENSG00000170920.2 | transcript | ENST00000305444.2 | protein_coding | 1/1 | 928/939 | 928/939 | 310/312 | chr19 | TogoVar | ||
| OR7G3_chr19_9121012_9131950 | 9126240 | AG | A | frameshift_variant | HIGH | HG00280.hp2 HG00738.hp1 HG01069.hp1 others(23): Show |
a0002 | a0002c0003 | a0002c0003t0000 | a0002c0003t0000g0000 | 26 | 402 | 0.0647 | -1 | c.710 others(4): Show |
p.Ala others(5): Show |
OR7G3 | ENSG00000170920.2 | transcript | ENST00000305444.2 | protein_coding | 1/1 | 710/939 | 710/939 | 237/312 | chr19 | TogoVar | ||
| OR8B3_chr11_124390534_124404024 | 124396801 | A | AG | frameshift_variant | HIGH | HG01167.hp2 HG01169.hp1 HG01255.hp1 others(8): Show |
a0005 | a0005c0005a0005c0020 | a0005c0005t0001a0005c0020t0001 | a0005c0005t0001g0007a0005c0020t0001g0042 | 11 | 452 | 0.0243 | 1 | c.550 others(4): Show |
p.Leu others(5): Show |
OR8B3 | ENSG00000284609.2 | transcript | ENST00000641139.1 | protein_coding | 2/2 | 902/2170 | 550/942 | 184/313 | chr11 | TogoVar | ||
| OR8D4_chr11_123897167_123914229 | 123906734 | G | GT | frameshift_variant | HIGH | HG01167.hp2 HG02647.hp2 HG02723.hp1 others(5): Show |
a0008 | a0008c0008a0008c0012 | a0008c0008t0002a0008c0008t0010a0008c0008t0020others(1): Show | a0008c0008t0002g0013a0008c0008t0002g0017a0008c0008t0002g0018others(3): Show | 8 | 450 | 0.0178 | 1 | c.311 others(4): Show |
p.Cys others(5): Show |
OR8D4 | ENSG00000181518.4 | transcript | ENST00000641687.1 | protein_coding | 2/2 | 418/2904 | 312/945 | 104/314 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| OR8G1_chr11_124236095_124259364 | 124249871 | CT | C | frameshift_variant | HIGH | HG01891.hp1 HG02145.hp1 HG02723.hp1 others(4): Show |
a0004 | a0004c0006 | a0004c0006t0003a0004c0006t0014a0004c0006t0036others(1): Show | a0004c0006t0003g0056a0004c0006t0014g0014a0004c0006t0036g0014others(1): Show | 7 | 430 | 0.0163 | -1 | c.197 others(4): Show |
p.Leu others(4): Show |
OR8G1 | ENSG00000197849.7 | transcript | ENST00000641972.1 | protein_coding | 3/3 | 563/5055 | 197/936 | 66/311 | chr11 | TogoVar | ||
| OR8G1_chr11_124236095_124259364 | 124250538 | TGATTTAT others(844): Show |
T | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp1 HG00423.hp2 others(214): Show |
a0001a0004a0006 | a0001c0002a0001c0003a0001c0012others(2): Show | a0001c0002t0003a0001c0002t0005a0001c0002t0007others(20): Show | a0001c0002t0003g0003a0001c0002t0003g0010a0001c0002t0003g0020others(42): Show | 217 | 430 | 0.5047 | -851 | c.866 others(8): Show |
p.Ile others(5): Show |
OR8G1 | ENSG00000197849.7 | transcript | ENST00000641972.1 | protein_coding | 3/3 | 1232/5055 | 866/936 | 289/311 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| OR8H2_chr11_56098687_56112658 | 56105390 | CTCAATGG others(6): Show |
C | frameshift_variant | HIGH | NA21309.hp2 | a0013 | a0013c0015 | a0013c0015t0001 | a0013c0015t0001g0001 | 1 | 452 | 0.0022 | -13 | c.349 others(20): Show |
p.Ser others(5): Show |
OR8H2 | ENSG00000181767.3 | transcript | ENST00000313503.2 | protein_coding | 2/2 | 821/3088 | 349/939 | 117/312 | chr11 | TogoVar | ||
| OR8H3_chr11_56117373_56128311 | 56122412 | ATCCTTAC others(3): Show |
A | frameshift_variant | HIGH | HG02630.hp2 | a0015 | a0015c0013 | a0015c0013t0000 | a0015c0013t0000g0000 | 1 | 415 | 0.0024 | -10 | c.41_ others(15): Show |
p.Ile others(4): Show |
OR8H3 | ENSG00000181761.5 | transcript | ENST00000313472.3 | protein_coding | 1/1 | 41/939 | 41/939 | 14/312 | chr11 | TogoVar | ||
| OR8I2_chr11_56088308_56099240 | 56093801 | GT | G | frameshift_variant | HIGH | HG00099.hp1 HG00323.hp1 HG01433.hp2 others(5): Show |
a0003 | a0003c0003a0003c0004 | a0003c0003t0000a0003c0004t0000 | a0003c0003t0000g0000a0003c0004t0000g0000 | 8 | 458 | 0.0175 | -1 | c.497 others(4): Show |
p.Leu others(5): Show |
OR8I2 | ENSG00000172154.11 | transcript | ENST00000302124.8 | protein_coding | 1/1 | 497/933 | 497/933 | 166/310 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| OR8I2_chr11_56088308_56099240 | 56093830 | CA | C | frameshift_variant | HIGH | HG00099.hp1 HG00323.hp1 HG01433.hp2 others(5): Show |
a0003 | a0003c0003a0003c0004 | a0003c0003t0000a0003c0004t0000 | a0003c0003t0000g0000a0003c0004t0000g0000 | 8 | 458 | 0.0175 | -1 | c.524 others(4): Show |
p.His others(5): Show |
OR8I2 | ENSG00000172154.11 | transcript | ENST00000302124.8 | protein_coding | 1/1 | 524/933 | 524/933 | 175/310 | chr11 | TogoVar | ||
| OR8J3_chr11_56129721_56145201 | 56137716 | CATGTCAG others(9): Show |
C | frameshift_variant others(1): Show |
HIGH | HG01169.hp2 | a0009 | a0009c0010 | a0009c0010t0029 | a0009c0010t0029g0044 | 1 | 412 | 0.0024 | -16 | c.-14 others(21): Show |
p.Met others(3): Show |
OR8J3 | ENSG00000167822.3 | transcript | ENST00000642058.1 | protein_coding | 2/2 | 810/3806 | 1/948 | 1/315 | chr11 | TogoVar | ||
| OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7591): Show |
frameshift_variant others(1): Show |
HIGH | HG03471.hp2 | a0005 | a0005c0063 | a0005c0063t0000 | a0005c0063t0000g0000 | 1 | 364 | 0.0028 | 7598 | c.590 others(7605): Show |
p.Phe others(5): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 591/930 | 591/930 | 197/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7599): Show |
frameshift_variant others(1): Show |
HIGH | HG01496.hp1 | a0005 | a0005c0064 | a0005c0064t0000 | a0005c0064t0000g0000 | 1 | 364 | 0.0028 | 7606 | c.590 others(7613): Show |
p.Phe others(5): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 591/930 | 591/930 | 197/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7599): Show |
frameshift_variant others(1): Show |
HIGH | HG01884.hp1 HG02055.hp2 HG02559.hp2 |
a0005 | a0005c0015 | a0005c0015t0000 | a0005c0015t0000g0000 | 3 | 364 | 0.0082 | 7606 | c.590 others(7613): Show |
p.Phe others(5): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 591/930 | 591/930 | 197/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7599): Show |
frameshift_variant others(1): Show |
HIGH | HG02622.hp2 HG02647.hp2 HG03098.hp2 others(2): Show |
a0005 | a0005c0010 | a0005c0010t0000 | a0005c0010t0000g0000 | 5 | 364 | 0.0137 | 7606 | c.590 others(7613): Show |
p.Phe others(5): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 591/930 | 591/930 | 197/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7597): Show |
frameshift_variant others(1): Show |
HIGH | HG02809.hp2 | a0005 | a0005c0068 | a0005c0068t0000 | a0005c0068t0000g0000 | 1 | 364 | 0.0028 | 7604 | c.590 others(7611): Show |
p.Phe others(5): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 591/930 | 591/930 | 197/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7597): Show |
frameshift_variant others(1): Show |
HIGH | HG02896.hp1 HG03471.hp1 |
a0005 | a0005c0027 | a0005c0027t0000 | a0005c0027t0000g0000 | 2 | 364 | 0.0055 | 7604 | c.590 others(7611): Show |
p.Phe others(5): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 591/930 | 591/930 | 197/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7597): Show |
frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00323.hp1 HG01433.hp2 others(2): Show |
a0002 | a0002c0007 | a0002c0007t0000 | a0002c0007t0000g0000 | 5 | 364 | 0.0137 | 7604 | c.590 others(7611): Show |
p.Phe others(5): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 591/930 | 591/930 | 197/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7597): Show |
frameshift_variant others(1): Show |
HIGH | HG03225.hp2 HG03516.hp2 NA19030.hp2 others(1): Show |
a0002 | a0002c0011 | a0002c0011t0000 | a0002c0011t0000g0000 | 4 | 364 | 0.0110 | 7604 | c.590 others(7611): Show |
p.Phe others(5): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 591/930 | 591/930 | 197/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7599): Show |
frameshift_variant others(1): Show |
HIGH | HG03139.hp1 | a0011 | a0011c0042 | a0011c0042t0000 | a0011c0042t0000g0000 | 1 | 364 | 0.0028 | 7606 | c.590 others(7613): Show |
p.Phe others(5): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 591/930 | 591/930 | 197/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7597): Show |
frameshift_variant others(1): Show |
HIGH | HG02615.hp1 HG02622.hp1 HG02717.hp2 others(2): Show |
a0002 | a0002c0008 | a0002c0008t0000 | a0002c0008t0000g0000 | 5 | 364 | 0.0137 | 7604 | c.590 others(7611): Show |
p.Phe others(5): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 591/930 | 591/930 | 197/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7597): Show |
frameshift_variant others(1): Show |
HIGH | HG03453.hp1 HG03579.hp2 |
a0002 | a0002c0017 | a0002c0017t0000 | a0002c0017t0000g0000 | 2 | 364 | 0.0055 | 7604 | c.590 others(7611): Show |
p.Phe others(5): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 591/930 | 591/930 | 197/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7597): Show |
frameshift_variant others(1): Show |
HIGH | HG02145.hp2 | a0002 | a0002c0028 | a0002c0028t0000 | a0002c0028t0000g0000 | 1 | 364 | 0.0028 | 7604 | c.590 others(7611): Show |
p.Phe others(5): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 591/930 | 591/930 | 197/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7603): Show |
frameshift_variant others(1): Show |
HIGH | HG02129.hp2 | a0004 | a0004c0039 | a0004c0039t0000 | a0004c0039t0000g0000 | 1 | 364 | 0.0028 | 7610 | c.590 others(7617): Show |
p.Phe others(5): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 591/930 | 591/930 | 197/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7603): Show |
frameshift_variant others(1): Show |
HIGH | HG00140.hp1 HG00621.hp1 HG00642.hp1 others(24): Show |
a0004a0007 | a0004c0004a0004c0021a0007c0023 | a0004c0004t0000a0004c0021t0000a0007c0023t0000 | a0004c0004t0000g0000a0004c0021t0000g0000a0007c0023t0000g0000 | 27 | 364 | 0.0742 | 7610 | c.590 others(7617): Show |
p.Phe others(5): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 591/930 | 591/930 | 197/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7603): Show |
frameshift_variant others(1): Show |
HIGH | HG03209.hp1 NA18522.hp2 |
a0004 | a0004c0022 | a0004c0022t0000 | a0004c0022t0000g0000 | 2 | 364 | 0.0055 | 7610 | c.590 others(7617): Show |
p.Phe others(5): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 591/930 | 591/930 | 197/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7603): Show |
frameshift_variant others(1): Show |
HIGH | HG01109.hp2 HG02145.hp1 HG02451.hp1 others(2): Show |
a0004 | a0004c0009 | a0004c0009t0000 | a0004c0009t0000g0000 | 5 | 364 | 0.0137 | 7610 | c.590 others(7617): Show |
p.Phe others(5): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 591/930 | 591/930 | 197/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7603): Show |
frameshift_variant others(1): Show |
HIGH | HG02717.hp1 HG03098.hp1 NA20300.hp2 |
a0004 | a0004c0012 | a0004c0012t0000 | a0004c0012t0000g0000 | 3 | 364 | 0.0082 | 7610 | c.590 others(7617): Show |
p.Phe others(5): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 591/930 | 591/930 | 197/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7603): Show |
frameshift_variant others(1): Show |
HIGH | HG03041.hp1 | a0004 | a0004c0040 | a0004c0040t0000 | a0004c0040t0000g0000 | 1 | 364 | 0.0028 | 7610 | c.590 others(7617): Show |
p.Phe others(5): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 591/930 | 591/930 | 197/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7603): Show |
frameshift_variant others(1): Show |
HIGH | HG00738.hp1 | a0004 | a0004c0041 | a0004c0041t0000 | a0004c0041t0000g0000 | 1 | 364 | 0.0028 | 7610 | c.590 others(7617): Show |
p.Phe others(5): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 591/930 | 591/930 | 197/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7594): Show |
frameshift_variant others(1): Show |
HIGH | HG02895.hp2 | a0002 | a0002c0030 | a0002c0030t0000 | a0002c0030t0000g0000 | 1 | 364 | 0.0028 | 7601 | c.590 others(7608): Show |
p.Phe others(5): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 591/930 | 591/930 | 197/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7594): Show |
frameshift_variant others(1): Show |
HIGH | HG03491.hp1 HG03492.hp1 |
a0002 | a0002c0019 | a0002c0019t0000 | a0002c0019t0000g0000 | 2 | 364 | 0.0055 | 7601 | c.590 others(7608): Show |
p.Phe others(5): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 591/930 | 591/930 | 197/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7597): Show |
frameshift_variant others(1): Show |
HIGH | NA18973.hp1 | a0002 | a0002c0033 | a0002c0033t0000 | a0002c0033t0000g0000 | 1 | 364 | 0.0028 | 7604 | c.590 others(7611): Show |
p.Phe others(5): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 591/930 | 591/930 | 197/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7599): Show |
frameshift_variant others(1): Show |
HIGH | HG02818.hp2 HG03139.hp2 |
a0002 | a0002c0020 | a0002c0020t0000 | a0002c0020t0000g0000 | 2 | 364 | 0.0055 | 7606 | c.590 others(7613): Show |
p.Phe others(5): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 591/930 | 591/930 | 197/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7594): Show |
frameshift_variant others(1): Show |
HIGH | HG02896.hp2 | a0001 | a0001c0051 | a0001c0051t0000 | a0001c0051t0000g0000 | 1 | 364 | 0.0028 | 7601 | c.492 others(7608): Show |
p.Arg others(5): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 493/930 | 493/930 | 165/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7600): Show |
frameshift_variant others(1): Show |
HIGH | NA18984.hp1 NA19060.hp2 |
a0001 | a0001c0026 | a0001c0026t0000 | a0001c0026t0000g0000 | 2 | 364 | 0.0055 | 7607 | c.492 others(7614): Show |
p.Arg others(5): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 493/930 | 493/930 | 165/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| OR8U1_chr11_56370624_56381553 | 56376094 | A | ATTTCACA others(7597): Show |
frameshift_variant others(1): Show |
HIGH | NA19075.hp2 | a0001 | a0001c0061 | a0001c0061t0000 | a0001c0061t0000g0000 | 1 | 364 | 0.0028 | 7604 | c.492 others(7611): Show |
p.Arg others(5): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 493/930 | 493/930 | 165/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| OR8U1_chr11_56370624_56381553 | 56376170 | C | CCTCTCCT others(7599): Show |
frameshift_variant others(1): Show |
HIGH | HG02965.hp2 | a0002 | a0002c0037 | a0002c0037t0000 | a0002c0037t0000g0000 | 1 | 364 | 0.0028 | 7606 | c.590 others(7613): Show |
p.Phe others(5): Show |
OR8U1 | ENSG00000172199.1 | transcript | ENST00000302270.1 | protein_coding | 1/1 | 591/930 | 591/930 | 197/309 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| OS9_chr12_57689132_57726557 | 57720435 | TGGGCTGA others(3): Show |
T | frameshift_variant | HIGH | NA18997.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0163 | 1 | 352 | 0.0028 | -10 | c.179 others(19): Show |
p.Trp others(5): Show |
OS9 | ENSG00000135506.17 | transcript | ENST00000315970.12 | protein_coding | 14/15 | 1827/2682 | 1797/2004 | 599/667 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
| OSBPL10_chr3_31655825_31986262 | 31981141 | A | AC | frameshift_variant | HIGH | HG01175.hp1 HG01175.hp2 HG01255.hp2 others(14): Show |
a0003 | a0003c0008a0003c0011a0003c0013others(8): Show | a0003c0008t0001a0003c0008t0002a0003c0011t0004others(11): Show | a0003c0008t0001g0001a0003c0008t0001g0006a0003c0008t0002g0005others(14): Show | 17 | 186 | 0.0914 | 1 | c.38d others(3): Show |
p.Ser others(4): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 1/12 | 121/3625 | 38/2295 | 13/764 | chr3 | TogoVar | ||
| OSTM1_chr6_108036409_108079741 | 108074299 | A | AG | frameshift_variant | HIGH | HG01175.hp1 HG01175.hp2 HG01517.hp2 others(7): Show |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0004a0003c0004t0005others(2): Show | a0003c0004t0001g0049a0003c0004t0001g0050a0003c0004t0001g0051others(7): Show | 10 | 388 | 0.0258 | 1 | c.352 others(4): Show |
p.Leu others(5): Show |
OSTM1 | ENSG00000081087.16 | transcript | ENST00000193322.8 | protein_coding | 1/6 | 442/4471 | 352/1005 | 118/334 | chr6 | TogoVar | ||
| OSTN_chr3_191194241_191270615 | 191250077 | ATGGATCG others(6): Show |
A | frameshift_variant | HIGH | HG01978.hp1 | a0000 | a0000c0003 | a0000c0003t0002 | a0000c0003t0002g0085 | 1 | 402 | 0.0025 | -13 | c.360 others(20): Show |
p.Met others(5): Show |
OSTN | ENSG00000188729.7 | transcript | ENST00000682035.1 | protein_coding | 4/5 | 427/3231 | 360/402 | 120/133 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
| OTOL1_chr3_161491808_161508942 | 161503363 | C | CTCTCACA others(4): Show |
frameshift_variant | HIGH | HG00642.hp1 | a0007 | a0007c0010 | a0007c0010t0000 | a0007c0010t0000g0001 | 1 | 450 | 0.0022 | 11 | c.855 others(18): Show |
p.Lys others(5): Show |
OTOL1 | ENSG00000182447.4 | transcript | ENST00000327928.4 | protein_coding | 4/4 | 856/1434 | 856/1434 | 286/477 | chr3 | TogoVar | ||
| OTOL1_chr3_161491808_161508942 | 161503480 | GAAGGGCT others(9): Show |
G | frameshift_variant | HIGH | HG00642.hp1 | a0007 | a0007c0010 | a0007c0010t0000 | a0007c0010t0000g0001 | 1 | 450 | 0.0022 | -16 | c.973 others(23): Show |
p.Lys others(5): Show |
OTOL1 | ENSG00000182447.4 | transcript | ENST00000327928.4 | protein_coding | 4/4 | 973/1434 | 973/1434 | 325/477 | chr3 | TogoVar | ||
| OTOP3_chr17_74930898_74954992 | 74949336 | G | GATTAGGC others(31): Show |
frameshift_variant others(1): Show |
HIGH | NA18954.hp1 | a0015 | a0015c0027 | a0015c0027t0001 | a0015c0027t0001g0287 | 1 | 468 | 0.0021 | 38 | c.165 others(47): Show |
p.Val others(5): Show |
OTOP3 | ENSG00000182938.7 | transcript | ENST00000328801.6 | protein_coding | 7/7 | 1682/2337 | 1658/1737 | 553/578 | chr17 | TogoVar | ||
| OTUB1_chr11_63981438_64003412 | 63997203 | TTCATCGA others(203): Show |
T | frameshift_variant others(1): Show |
HIGH | HG03654.hp2 | a0000 | a0000c0003 | a0000c0003t0001 | a0000c0003t0001g0103 | 1 | 330 | 0.0030 | -210 | c.578 others(7): Show |
p.Phe others(5): Show |
OTUB1 | ENSG00000167770.13 | transcript | ENST00000538426.6 | protein_coding | 6/7 | 597/1701 | 578/816 | 193/271 | chr11 | TogoVar | ||
| OTUD5_chrX_48917024_48962607 | 48923710 | G | GC | frameshift_variant | HIGH | NA18994.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0125 | 1 | 266 | 0.0038 | 1 | c.150 others(5): Show |
p.Ala others(5): Show |
OTUD5 | ENSG00000068308.15 | transcript | ENST00000376488.8 | protein_coding | 8/9 | 1538/2888 | 1501/1701 | 501/566 | chrX | TogoVar | ||
| OTUD5_chrX_48917024_48962607 | 48923897 | TG | T | frameshift_variant | HIGH | NA19075.hp1 | a0005 | a0005c0007 | a0005c0007t0010 | a0005c0007t0010g0201 | 1 | 266 | 0.0038 | -1 | c.141 others(5): Show |
p.Pro others(5): Show |
OTUD5 | ENSG00000068308.15 | transcript | ENST00000376488.8 | protein_coding | 7/9 | 1455/2888 | 1418/1701 | 473/566 | chrX | TogoVar |