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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OR5K4_chr3_98348854_98359819 | 98353584 | TAGGATAA others(16): Show |
T | upstream_gene_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 450 | 0.0022 | -23 | c.-26 others(32): Show |
OR5K4 | ENSG00000196098.2 | transcript | ENST00000354924.2 | protein_coding | 269 | chr3 | TogoVar | |||||||
OR6J1_chr14_22625929_22649352 | 22641210 | TAAGAAAG others(16): Show |
T | intron_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0002 | a0002c0002t0025 | a0002c0002t0025g0288 | 1 | 32 | 0.0313 | -23 | c.-28 others(40): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
OR7A10_chr19_14835466_14853922 | 14849356 | CTCTTCTT others(16): Show |
C | upstream_gene_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 483 | 0.0021 | -23 | c.-89 others(32): Show |
OR7A10 | ENSG00000127515.3 | transcript | ENST00000641129.1 | protein_coding | 435 | chr19 | TogoVar | |||||||
OR7A10_chr19_14835466_14853922 | 14849427 | TTCTTCTT others(16): Show |
T | upstream_gene_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0012 | 1 | 486 | 0.0021 | -23 | c.-96 others(32): Show |
OR7A10 | ENSG00000127515.3 | transcript | ENST00000641129.1 | protein_coding | 506 | chr19 | TogoVar | |||||||
OR7A10_chr19_14835466_14853922 | 14849429 | CTTCTTCT others(16): Show |
C | upstream_gene_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 486 | 0.0021 | -23 | c.-96 others(32): Show |
OR7A10 | ENSG00000127515.3 | transcript | ENST00000641129.1 | protein_coding | 508 | chr19 | TogoVar | |||||||
OR7A17_chr19_14873203_14891132 | 14885689 | CCATACTG others(16): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG01891.hp2 others(24): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0005a0001c0001t0010a0001c0001t0021others(16): Show | a0001c0001t0005g0174 a0001c0001t0010g0026 a0001c0001t0010g0167 others(17): Show |
27 | 442 | 0.0611 | -23 | c.-29 others(40): Show |
OR7A17 | ENSG00000185385.5 | transcript | ENST00000641113.1 | protein_coding | 1/2 | chr19 | TogoVar | |||||||
OR7A5_chr19_14821241_14840185 | 14828913 | AGAATATA others(16): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00558.hp2 others(170): Show |
a0001a0006 | a0001c0001a0001c0010a0006c0008 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0017 others(41): Show |
173 | 470 | 0.3681 | -23 | c.-13 others(38): Show |
OR7A5 | ENSG00000188269.10 | transcript | ENST00000322301.5 | protein_coding | 1/1 | chr19 | TogoVar | |||||||
OR7C1_chr19_14793515_14840185 | 14828913 | AGAATATA others(16): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00558.hp2 others(138): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(106): Show |
141 | 406 | 0.3473 | -23 | c.-62 others(42): Show |
OR7C1 | ENSG00000127530.4 | transcript | ENST00000641666.2 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
OR7D2_chr19_9173979_9193818 | 9183955 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0062 | 1 | 72 | 0.0139 | -23 | c.-13 others(40): Show |
OR7D2 | ENSG00000188000.6 | transcript | ENST00000641288.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
OR9Q1_chr11_58018881_58186616 | 58037683 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0077 | 1 | 282 | 0.0035 | -23 | c.-93 others(42): Show |
OR9Q1 | ENSG00000186509.4 | transcript | ENST00000335397.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
OR9Q1_chr11_58018881_58186616 | 58037685 | ATATATTT others(16): Show |
A | intron_variant | MODIFIER | HG03654.hp1 NA19082.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0002c0003t0001 | a0001c0001t0003g0036 a0002c0003t0001g0304 |
2 | 302 | 0.0066 | -23 | c.-93 others(42): Show |
OR9Q1 | ENSG00000186509.4 | transcript | ENST00000335397.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
OR9Q1_chr11_58018881_58186616 | 58037687 | ATATTTTT others(16): Show |
A | intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 1 | 296 | 0.0034 | -23 | c.-93 others(42): Show |
OR9Q1 | ENSG00000186509.4 | transcript | ENST00000335397.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
OR9Q1_chr11_58018881_58186616 | 58065377 | ACATGCCT others(16): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00438.hp1 others(198): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0022 others(196): Show |
201 | 322 | 0.6242 | -23 | c.-15 others(40): Show |
OR9Q1 | ENSG00000186509.4 | transcript | ENST00000335397.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
OR9Q1_chr11_58018881_58186616 | 58069139 | GTCCATGC others(16): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG00642.hp1 others(80): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(15): Show | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(80): Show |
83 | 322 | 0.2578 | -23 | c.-15 others(42): Show |
OR9Q1 | ENSG00000186509.4 | transcript | ENST00000335397.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ORAI3_chr16_30944068_30959938 | 30958355 | GTGGCCGG others(16): Show |
G | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 290 | 0.0069 | -23 | c.*45 others(34): Show |
ORAI3 | ENSG00000175938.7 | transcript | ENST00000318663.5 | protein_coding | 3418 | chr16 | TogoVar | |||||||
ORC5_chr7_104121341_104213013 | 104194166 | TTTATGGA others(16): Show |
T | intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0224 | 1 | 364 | 0.0027 | -23 | c.553 others(38): Show |
ORC5 | ENSG00000164815.11 | transcript | ENST00000297431.9 | protein_coding | 5/13 | chr7 | TogoVar | |||||||
OSBPL10_chr3_31655825_31986262 | 31812715 | AAAAAAAG others(16): Show |
A | intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0029 | a0001c0029t0001 | a0001c0029t0001g0128 | 1 | 184 | 0.0054 | -23 | c.729 others(42): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 4/11 | chr3 | TogoVar | |||||||
OSBPL10_chr3_31655825_31986262 | 31965525 | TTATATTA others(16): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp2 others(50): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0009others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(17): Show | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 others(50): Show |
53 | 175 | 0.3029 | -23 | c.281 others(42): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 1/11 | chr3 | TogoVar | |||||||
OSBPL2_chr20_62233521_62301183 | 62270446 | GCCTCTCT others(16): Show |
G | intron_variant | MODIFIER | HG02257.hp2 HG03453.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0219 a0001c0002t0001g0220 |
2 | 346 | 0.0058 | -23 | c.259 others(40): Show |
OSBPL2 | ENSG00000130703.17 | transcript | ENST00000313733.9 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
OSBPL2_chr20_62233521_62301183 | 62288378 | CGGAGGCT others(16): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01496.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 a0001c0001t0001g0237 |
2 | 346 | 0.0058 | -23 | c.112 others(40): Show |
OSBPL2 | ENSG00000130703.17 | transcript | ENST00000313733.9 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
OSBPL6_chr2_178189512_178407893 | 178265191 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01516.hp1 HG03041.hp2 others(1): Show |
a0002 | a0002c0003a0002c0006 | a0002c0003t0078a0002c0003t0079a0002c0003t0080others(1): Show | a0002c0003t0078g0020 a0002c0003t0079g0038 a0002c0003t0080g0193 others(1): Show |
4 | 7 | 0.5714 | -23 | c.-35 others(44): Show |
OSBPL6 | ENSG00000079156.17 | transcript | ENST00000190611.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
OSCAR_chr19_54089668_54105803 | 54097244 | ATCACCTT others(16): Show |
A | intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 442 | 0.0023 | -23 | c.71- others(35): Show |
OSCAR | ENSG00000170909.14 | transcript | ENST00000358375.9 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
OSM_chr22_30257829_30271851 | 30266645 | TCCTTCTG others(16): Show |
T | intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0025 | 1 | 432 | 0.0023 | -23 | c.34+ others(35): Show |
OSM | ENSG00000099985.4 | transcript | ENST00000215781.3 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
OSTF1_chr9_75083514_75152265 | 75128504 | TATATATA others(16): Show |
T | intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 364 | 0.0027 | -23 | c.132 others(38): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
OTUD7A_chr15_31470398_31875673 | 31510836 | CATATGTA others(16): Show |
C | intron_variant | MODIFIER | HG03942.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0069 | 1 | 210 | 0.0048 | -23 | c.894 others(40): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | |||||||
OTUD7A_chr15_31470398_31875673 | 31510972 | CATATGTA others(16): Show |
C | intron_variant | MODIFIER | NA18612.hp1 | a0002 | a0002c0003 | a0002c0003t0008 | a0002c0003t0008g0039 | 1 | 242 | 0.0041 | -23 | c.894 others(40): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | |||||||
OXCT1_chr5_41725065_41875425 | 41859866 | TATATATA others(16): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG01106.hp2 HG01433.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 others(5): Show |
8 | 194 | 0.0412 | -23 | c.278 others(40): Show |
OXCT1 | ENSG00000083720.13 | transcript | ENST00000196371.10 | protein_coding | 3/16 | chr5 | TogoVar | |||||||
OXR1_chr8_106265190_106757694 | 106405179 | TATATATA others(16): Show |
T | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0027 | 1 | 170 | 0.0059 | -23 | c.23+ others(40): Show |
OXR1 | ENSG00000164830.19 | transcript | ENST00000517566.7 | protein_coding | 2/16 | chr8 | TogoVar | |||||||
OXR1_chr8_106265190_106757694 | 106694755 | TATATATA others(16): Show |
T | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0079 | 1 | 170 | 0.0059 | -23 | c.675 others(40): Show |
OXR1 | ENSG00000164830.19 | transcript | ENST00000517566.7 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
P2RX5_chr17_3668227_3701155 | 3699879 | AAGGAAGG others(16): Show |
A | upstream_gene_variant | MODIFIER | NA18947.hp2 NA18954.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 a0001c0001t0001g0261 |
2 | 359 | 0.0056 | -23 | c.-38 others(34): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 3725 | chr17 | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1472694 | GGGAGGGT others(16): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(29): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(13): Show | a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0035 others(29): Show |
32 | 113 | 0.2832 | -23 | c.-24 others(40): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1530149 | GTATGTAT others(16): Show |
G | intron_variant | MODIFIER | HG02148.hp2 HG02451.hp1 HG02897.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0016a0001c0001t0032others(3): Show | a0001c0001t0001g0084 a0001c0001t0016g0106 a0001c0001t0032g0114 others(3): Show |
6 | 34 | 0.1765 | -23 | c.-25 others(40): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73037549 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 231 | 0.0043 | -23 | c.114 others(42): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 9/14 | chr10 | TogoVar | |||||||
PACC1_chr1_212358928_212419886 | 212381670 | GTGCACAG others(16): Show |
G | intron_variant | MODIFIER | HG01175.hp2 HG01257.hp2 HG01258.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0001g0280 a0001c0001t0005g0021 a0001c0001t0005g0318 others(13): Show |
18 | 372 | 0.0484 | -23 | c.496 others(40): Show |
PACC1 | ENSG00000065600.13 | transcript | ENST00000261455.9 | protein_coding | 4/7 | chr1 | TogoVar | |||||||
PACRG_chr6_162722974_163320500 | 163109957 | ATAGAGCT others(16): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02723.hp1 HG02809.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0017 a0001c0001t0001g0038 a0001c0001t0001g0047 others(8): Show |
11 | 130 | 0.0846 | -23 | c.613 others(42): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PACRG_chr6_162722974_163320500 | 163196921 | AGACAGAT others(16): Show |
A | intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 125 | 0.0080 | -23 | c.613 others(44): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 4/4 | chr6 | TogoVar | |||||||
PACS1_chr11_66065272_66249744 | 66156232 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG03130.hp2 HG03209.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0296 a0001c0001t0001g0297 others(2): Show |
5 | 320 | 0.0156 | -23 | c.357 others(42): Show |
PACS1 | ENSG00000175115.13 | transcript | ENST00000320580.9 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PACS1_chr11_66065272_66249744 | 66202743 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0272 a0001c0001t0002g0319 |
2 | 165 | 0.0121 | -23 | c.445 others(40): Show |
PACS1 | ENSG00000175115.13 | transcript | ENST00000320580.9 | protein_coding | 2/23 | chr11 | TogoVar | |||||||
PACS2_chr14_105309748_105403147 | 105364320 | CGGTGGGC others(16): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01891.hp2 HG02109.hp2 others(21): Show |
a0002a0007 | a0002c0002a0002c0003a0002c0005others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(10): Show | a0002c0002t0001g0019 a0002c0002t0002g0001 a0002c0002t0002g0193 others(19): Show |
24 | 208 | 0.1154 | -23 | c.424 others(40): Show |
PACS2 | ENSG00000179364.15 | transcript | ENST00000447393.6 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PACS2_chr14_105309748_105403147 | 105364373 | CGTCCCGG others(16): Show |
C | intron_variant | MODIFIER | HG02132.hp1 HG02155.hp2 HG03654.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0020a0001c0001t0038 | a0001c0001t0007g0010 a0001c0001t0007g0011 a0001c0001t0007g0089 others(2): Show |
5 | 197 | 0.0254 | -23 | c.424 others(40): Show |
PACS2 | ENSG00000179364.15 | transcript | ENST00000447393.6 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PACS2_chr14_105309748_105403147 | 105364419 | TGTCCCGG others(16): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01256.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0030 | a0001c0001t0001g0029 a0001c0001t0001g0036 a0001c0001t0030g0032 |
3 | 166 | 0.0181 | -23 | c.424 others(40): Show |
PACS2 | ENSG00000179364.15 | transcript | ENST00000447393.6 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PAFAH1B2_chr11_117139287_117176045 | 117172382 | ATATATAT others(16): Show |
A | downstream_gene_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 422 | 0.0024 | -23 | c.*46 others(34): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1338 | chr11 | TogoVar | |||||||
PAFAH1B2_chr11_117139287_117176045 | 117172384 | ATATATAT others(16): Show |
A | downstream_gene_variant | MODIFIER | HG00673.hp1 HG02083.hp2 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0010g0012 |
3 | 426 | 0.0070 | -23 | c.*46 others(34): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1340 | chr11 | TogoVar | |||||||
PAG1_chr8_80962810_81117068 | 80979789 | TACATATG others(16): Show |
T | intron_variant | MODIFIER | HG02109.hp1 | a0002 | a0002c0005 | a0002c0005t0042 | a0002c0005t0042g0170 | 1 | 254 | 0.0039 | -23 | c.936 others(38): Show |
PAG1 | ENSG00000076641.4 | transcript | ENST00000220597.4 | protein_coding | 8/8 | chr8 | TogoVar | |||||||
PAGE1_chrX_49682447_49700984 | 49689566 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0017 | 2 | 319 | 0.0063 | -23 | c.293 others(36): Show |
PAGE1 | ENSG00000068985.5 | transcript | ENST00000376150.4 | protein_coding | 4/5 | chrX | TogoVar | |||||||
PAGE1_chrX_49682447_49700984 | 49689570 | AAAAAAAT others(16): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 320 | 0.0031 | -23 | c.293 others(36): Show |
PAGE1 | ENSG00000068985.5 | transcript | ENST00000376150.4 | protein_coding | 4/5 | chrX | TogoVar | |||||||
PAGE1_chrX_49682447_49700984 | 49689572 | AAAAATAT others(16): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 2 | 317 | 0.0063 | -23 | c.293 others(36): Show |
PAGE1 | ENSG00000068985.5 | transcript | ENST00000376150.4 | protein_coding | 4/5 | chrX | TogoVar | |||||||
PAGE4_chrX_49824303_49839264 | 49839162 | TTTGTGAA others(16): Show |
T | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02486.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0011 | 2 | 288 | 0.0069 | -23 | c.*53 others(34): Show |
PAGE4 | ENSG00000101951.17 | transcript | ENST00000218068.7 | protein_coding | 4899 | chrX | TogoVar | |||||||
PAH_chr12_102831889_102922244 | 102871932 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG02004.hp2 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0194 a0001c0001t0002g0156 |
2 | 302 | 0.0066 | -23 | c.442 others(40): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | TogoVar | |||||||
PAH_chr12_102831889_102922244 | 102871934 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG01069.hp2 others(30): Show |
a0001 | a0001c0001a0001c0007a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0068 a0001c0001t0001g0179 a0001c0001t0001g0197 others(29): Show |
33 | 295 | 0.1119 | -23 | c.442 others(40): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | TogoVar |