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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NSD1_chr5_177128773_177305213 | 177158998 | T | TTATATAT others(41): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0132 | 1 | 298 | 0.0034 | 48 | c.927 others(67): Show |
NSD1 | ENSG00000165671.22 | transcript | ENST00000439151.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
NSRP1_chr17_30111816_30191475 | 30122352 | C | CATATATA others(41): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0182 | 1 | 282 | 0.0036 | 48 | c.114 others(65): Show |
NSRP1 | ENSG00000126653.18 | transcript | ENST00000247026.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
NSUN2_chr5_6594239_6638044 | 6600654 | T | TGGGAGAC others(41): Show |
intron_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0182 | 1 | 438 | 0.0023 | 48 | c.199 others(65): Show |
NSUN2 | ENSG00000037474.15 | transcript | ENST00000264670.11 | protein_coding | 18/18 | chr5 | TogoVar | ||||||
NTM_chr11_131365615_132341822 | 132275704 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02280.hp2 HG02615.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0009 | a0001c0001t0001g0004a0001c0001t0001g0023a0001c0001t0001g0042others(4): Show | 7 | 86 | 0.0814 | 48 | c.527 others(67): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NTN1_chr17_9016510_9249000 | 9226540 | G | GTGGGGAG others(41): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01069.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0059 | a0001c0001t0001g0028a0001c0001t0059g0115 | 2 | 258 | 0.0078 | 48 | c.148 others(67): Show |
NTN1 | ENSG00000065320.9 | transcript | ENST00000173229.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
NTN5_chr19_48656407_48678017 | 48669240 | C | CCACCACC others(41): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01081.hp2 HG01168.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0017a0001c0002t0002g0052 | 6 | 412 | 0.0146 | 48 | c.631 others(65): Show |
NTN5 | ENSG00000142233.14 | transcript | ENST00000270235.11 | protein_coding | 2/6 | chr19 | TogoVar | ||||||
NTNG1_chr1_107136039_107489923 | 107290984 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0034a0001c0001t0035 | a0001c0001t0034g0057a0001c0001t0035g0059 | 2 | 150 | 0.0133 | 48 | c.247 others(67): Show |
NTNG1 | ENSG00000162631.20 | transcript | ENST00000370068.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NTRK1_chr1_156855865_156886850 | 156869018 | C | CCCTTCCT others(41): Show |
intron_variant | MODIFIER | NA18975.hp2 NA19080.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0135a0001c0003t0001g0138 | 2 | 392 | 0.0051 | 48 | c.717 others(63): Show |
NTRK1 | ENSG00000198400.14 | transcript | ENST00000524377.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NTSR1_chr20_62703836_62767771 | 62747464 | C | CACTCAGT others(41): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 316 | 0.0032 | 48 | c.715 others(65): Show |
NTSR1 | ENSG00000101188.5 | transcript | ENST00000370501.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
NTSR1_chr20_62703836_62767771 | 62755221 | T | TTCTCTCC others(41): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02451.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0018 | a0001c0001t0008g0296a0001c0001t0018g0204 | 2 | 316 | 0.0063 | 48 | c.916 others(63): Show |
NTSR1 | ENSG00000101188.5 | transcript | ENST00000370501.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
NTSR1_chr20_62703836_62767771 | 62755265 | A | ATCCATCC others(41): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03130.hp1 HG03453.hp2 |
a0001 | a0001c0003 | a0001c0003t0017a0001c0003t0023 | a0001c0003t0017g0223a0001c0003t0017g0224a0001c0003t0023g0230 | 3 | 316 | 0.0095 | 48 | c.916 others(63): Show |
NTSR1 | ENSG00000101188.5 | transcript | ENST00000370501.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
NUBPL_chr14_31556404_31866224 | 31760144 | T | TGTGTGTG others(41): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 268 | 0.0037 | 48 | c.514 others(67): Show |
NUBPL | ENSG00000151413.17 | transcript | ENST00000281081.12 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
NUBPL_chr14_31556404_31866224 | 31760144 | T | TGTGTGTG others(41): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0037 | 1 | 268 | 0.0037 | 48 | c.514 others(67): Show |
NUBPL | ENSG00000151413.17 | transcript | ENST00000281081.12 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
NUCB2_chr11_17271739_17337211 | 17288882 | T | TACACACA others(41): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02300.hp1 NA18991.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0155a0002c0002t0002g0160a0002c0002t0002g0196 | 3 | 360 | 0.0083 | 48 | c.-1+ others(63): Show |
NUCB2 | ENSG00000070081.18 | transcript | ENST00000529010.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NUDCD1_chr8_109235919_109339087 | 109311559 | G | GTATATAT others(41): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0206 | 1 | 360 | 0.0028 | 48 | c.273 others(67): Show |
NUDCD1 | ENSG00000120526.12 | transcript | ENST00000239690.9 | protein_coding | 2/9 | chr8 | TogoVar | ||||||
NUDCD1_chr8_109235919_109339087 | 109311559 | G | GTGTATAT others(41): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG03516.hp2 |
a0006 | a0006c0006 | a0006c0006t0008 | a0006c0006t0008g0334a0006c0006t0008g0335a0006c0006t0008g0336 | 3 | 360 | 0.0083 | 48 | c.273 others(67): Show |
NUDCD1 | ENSG00000120526.12 | transcript | ENST00000239690.9 | protein_coding | 2/9 | chr8 | TogoVar | ||||||
NUDCD1_chr8_109235919_109339087 | 109311559 | G | GTGTGTGT others(41): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02897.hp2 HG03098.hp2 |
a0003 | a0003c0003 | a0003c0003t0004a0003c0003t0006 | a0003c0003t0004g0218a0003c0003t0006g0009 | 3 | 360 | 0.0083 | 48 | c.273 others(67): Show |
NUDCD1 | ENSG00000120526.12 | transcript | ENST00000239690.9 | protein_coding | 2/9 | chr8 | TogoVar | ||||||
NUDT3_chr6_34274679_34397669 | 34397648 | G | GTGCCGTC others(41): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG03098.hp1 HG03209.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0026 | a0001c0001t0011g0103a0001c0001t0011g0104a0001c0001t0011g0105others(2): Show | 5 | 270 | 0.0185 | 48 | c.-52 others(59): Show |
NUDT3 | ENSG00000272325.2 | transcript | ENST00000607016.2 | protein_coding | 4980 | chr6 | TogoVar | ||||||
NUP160_chr11_47773118_47853350 | 47775210 | T | TAGAAAAA others(41): Show |
downstream_gene_variant | MODIFIER | HG03834.hp1 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199a0001c0001t0002g0208 | 2 | 338 | 0.0059 | 48 | c.*38 others(59): Show |
NUP160 | ENSG00000030066.14 | transcript | ENST00000378460.7 | protein_coding | 2907 | chr11 | TogoVar | ||||||
NUP210L_chr1_153987690_154160073 | 154125622 | A | AAAGGAAG others(41): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01106.hp1 HG01192.hp1 others(15): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0029others(15): Show | 18 | 290 | 0.0621 | 48 | c.132 others(65): Show |
NUP210L | ENSG00000143552.10 | transcript | ENST00000368559.8 | protein_coding | 10/39 | chr1 | TogoVar | ||||||
NUP93_chr16_56725129_56855286 | 56808231 | T | TATATAGT others(41): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0038 | 1 | 378 | 0.0027 | 48 | c.489 others(65): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NUP93_chr16_56725129_56855286 | 56808381 | T | TATATAGT others(41): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0021 | 1 | 378 | 0.0027 | 48 | c.489 others(65): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NUP98_chr11_3670019_3802554 | 3688820 | C | CATATACA others(41): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0319 | 1 | 342 | 0.0029 | 48 | c.445 others(67): Show |
NUP98 | ENSG00000110713.18 | transcript | ENST00000324932.12 | protein_coding | 28/32 | chr11 | TogoVar | ||||||
NUPR1_chr16_28527708_28543974 | 28535560 | T | TTTCTTTC others(41): Show |
3_prime_UTR_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0216 | a0001c0001t0216g0234 | 1 | 368 | 0.0027 | 48 | c.*21 others(59): Show |
NUPR1 | ENSG00000176046.9 | transcript | ENST00000324873.8 | protein_coding | 3/3 | 2458 | chr16 | TogoVar | |||||
NUPR1_chr16_28527708_28543974 | 28535563 | C | CTTTCTTT others(41): Show |
3_prime_UTR_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0099 | a0001c0001t0099g0093 | 1 | 368 | 0.0027 | 48 | c.*21 others(59): Show |
NUPR1 | ENSG00000176046.9 | transcript | ENST00000324873.8 | protein_coding | 3/3 | 2455 | chr16 | TogoVar | |||||
NUPR1_chr16_28527708_28543974 | 28535563 | C | CTTTCTTT others(41): Show |
3_prime_UTR_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0116 | a0001c0001t0116g0099 | 1 | 368 | 0.0027 | 48 | c.*21 others(59): Show |
NUPR1 | ENSG00000176046.9 | transcript | ENST00000324873.8 | protein_coding | 3/3 | 2455 | chr16 | TogoVar | |||||
NUPR1_chr16_28527708_28543974 | 28535604 | C | CTTTTCTT others(41): Show |
3_prime_UTR_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0080 | a0001c0001t0080g0076 | 1 | 368 | 0.0027 | 48 | c.*20 others(59): Show |
NUPR1 | ENSG00000176046.9 | transcript | ENST00000324873.8 | protein_coding | 3/3 | 2414 | chr16 | TogoVar | |||||
NUPR2_chr7_56109681_56121417 | 56115405 | A | ATATATAC others(41): Show |
intron_variant | MODIFIER | HG01943.hp2 HG01981.hp2 NA18939.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0025 | 16 | 448 | 0.0357 | 48 | c.*7- others(61): Show |
NUPR2 | ENSG00000185290.4 | transcript | ENST00000329309.4 | protein_coding | 1/1 | chr7 | TogoVar | ||||||
NUPR2_chr7_56109681_56121417 | 56115407 | A | ATATACAC others(41): Show |
intron_variant | MODIFIER | NA18952.hp2 NA18989.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 2 | 448 | 0.0045 | 48 | c.*7- others(61): Show |
NUPR2 | ENSG00000185290.4 | transcript | ENST00000329309.4 | protein_coding | 1/1 | chr7 | TogoVar | ||||||
NUPR2_chr7_56109681_56121417 | 56115417 | A | ATATATAC others(41): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 448 | 0.0022 | 48 | c.*7- others(61): Show |
NUPR2 | ENSG00000185290.4 | transcript | ENST00000329309.4 | protein_coding | 1/1 | chr7 | TogoVar | ||||||
NUPR2_chr7_56109681_56121417 | 56115625 | T | TTATATAT others(41): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02083.hp2 HG02615.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058a0001c0001t0001g0059a0001c0001t0001g0060others(2): Show | 8 | 448 | 0.0179 | 48 | c.*6+ others(61): Show |
NUPR2 | ENSG00000185290.4 | transcript | ENST00000329309.4 | protein_coding | 1/1 | chr7 | TogoVar | ||||||
NUTM2F_chr9_94313198_94333644 | 94313212 | T | TTATAATA others(41): Show |
downstream_gene_variant | MODIFIER | HG01928.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0069 | 1 | 322 | 0.0031 | 48 | c.*52 others(59): Show |
NUTM2F | ENSG00000130950.15 | transcript | ENST00000253262.9 | protein_coding | 4985 | chr9 | TogoVar | ||||||
NWD1_chr19_16714847_16822953 | 16736193 | T | TTTCCTTC others(41): Show |
intron_variant | MODIFIER | HG03471.hp2 HG03516.hp1 |
a0004a0017 | a0004c0009a0017c0021 | a0004c0009t0009a0017c0021t0002 | a0004c0009t0009g0047a0017c0021t0002g0046 | 2 | 300 | 0.0067 | 48 | c.82- others(61): Show |
NWD1 | ENSG00000188039.17 | transcript | ENST00000524140.7 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NWD1_chr19_16714847_16822953 | 16736209 | T | TTTCCTTC others(41): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0281 | 1 | 300 | 0.0033 | 48 | c.82- others(61): Show |
NWD1 | ENSG00000188039.17 | transcript | ENST00000524140.7 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NXN_chr17_794310_984776 | 983611 | T | TATATATA others(41): Show |
upstream_gene_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0080 | 1 | 242 | 0.0041 | 48 | c.-39 others(59): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 3836 | chr17 | TogoVar | ||||||
NYAP2_chr2_225394710_225708654 | 225597512 | A | AATATATA others(41): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02523.hp2 NA18941.hp1 others(3): Show |
a0001 | a0001c0002a0001c0004a0001c0007 | a0001c0002t0001a0001c0004t0002a0001c0007t0005others(1): Show | a0001c0002t0001g0081a0001c0002t0001g0086a0001c0004t0002g0145others(3): Show | 6 | 192 | 0.0313 | 48 | c.161 others(69): Show |
NYAP2 | ENSG00000144460.13 | transcript | ENST00000272907.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NYAP2_chr2_225394710_225708654 | 225612796 | G | GGACATCA others(41): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp2 others(57): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(20): Show | a0001c0001t0001g0005a0001c0001t0001g0038a0001c0001t0002g0004others(57): Show | 60 | 192 | 0.3125 | 48 | c.161 others(69): Show |
NYAP2 | ENSG00000144460.13 | transcript | ENST00000272907.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NYAP2_chr2_225394710_225708654 | 225612796 | G | GGACATCA others(41): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 192 | 0.0052 | 48 | c.161 others(69): Show |
NYAP2 | ENSG00000144460.13 | transcript | ENST00000272907.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
OBI1_chr13_78609289_78664155 | 78658420 | G | GTATTCTA others(41): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 296 | 0.0034 | 48 | c.72+ others(61): Show |
OBI1 | ENSG00000152193.8 | transcript | ENST00000282003.7 | protein_coding | 1/5 | chr13 | TogoVar | ||||||
OBI1_chr13_78609289_78664155 | 78659312 | A | AAAAAAAA others(41): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 1 | 296 | 0.0034 | 48 | c.-19 others(57): Show |
OBI1 | ENSG00000152193.8 | transcript | ENST00000282003.7 | protein_coding | 158 | chr13 | TogoVar | ||||||
OC90_chr8_132019216_132064382 | 132028563 | A | AAAGAAAG others(41): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0090 | 1 | 408 | 0.0025 | 48 | c.113 others(65): Show |
OC90 | ENSG00000253117.5 | transcript | ENST00000254627.4 | protein_coding | 13/13 | chr8 | TogoVar | ||||||
OCA2_chr15_27749875_28104315 | 27824602 | C | CTCTCTCT others(41): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02647.hp2 |
a0001a0003 | a0001c0007a0003c0012 | a0001c0007t0001a0003c0012t0001 | a0001c0007t0001g0090a0003c0012t0001g0014 | 2 | 110 | 0.0182 | 48 | c.243 others(69): Show |
OCA2 | ENSG00000104044.16 | transcript | ENST00000354638.8 | protein_coding | 23/23 | chr15 | TogoVar | ||||||
OCEL1_chr19_17221226_17234219 | 17225459 | C | CTCTCTCT others(41): Show |
upstream_gene_variant | MODIFIER | HG02148.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0002 | 1 | 444 | 0.0023 | 48 | c.-78 others(57): Show |
OCEL1 | ENSG00000099330.9 | transcript | ENST00000215061.9 | protein_coding | 766 | chr19 | TogoVar | ||||||
OCEL1_chr19_17221226_17234219 | 17225459 | C | CTCTCTCT others(41): Show |
upstream_gene_variant | MODIFIER | HG01928.hp2 HG02004.hp2 HG02135.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0002 | 4 | 444 | 0.0090 | 48 | c.-78 others(57): Show |
OCEL1 | ENSG00000099330.9 | transcript | ENST00000215061.9 | protein_coding | 766 | chr19 | TogoVar | ||||||
OCEL1_chr19_17221226_17234219 | 17225459 | C | CTCTCTCT others(41): Show |
upstream_gene_variant | MODIFIER | NA18954.hp2 NA19004.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0002 | 2 | 444 | 0.0045 | 48 | c.-78 others(57): Show |
OCEL1 | ENSG00000099330.9 | transcript | ENST00000215061.9 | protein_coding | 766 | chr19 | TogoVar | ||||||
OCEL1_chr19_17221226_17234219 | 17225459 | C | CTCTCTCT others(41): Show |
upstream_gene_variant | MODIFIER | HG02155.hp2 NA18990.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0002 | 2 | 444 | 0.0045 | 48 | c.-78 others(57): Show |
OCEL1 | ENSG00000099330.9 | transcript | ENST00000215061.9 | protein_coding | 766 | chr19 | TogoVar | ||||||
OCEL1_chr19_17221226_17234219 | 17225459 | C | CTCTCTCT others(41): Show |
upstream_gene_variant | MODIFIER | HG03540.hp2 NA19067.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0002 | 2 | 444 | 0.0045 | 48 | c.-78 others(57): Show |
OCEL1 | ENSG00000099330.9 | transcript | ENST00000215061.9 | protein_coding | 766 | chr19 | TogoVar | ||||||
OCLN_chr5_69487790_69563104 | 69515528 | C | CGGGGGGC others(41): Show |
intron_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0084 | 1 | 290 | 0.0035 | 48 | c.891 others(65): Show |
OCLN | ENSG00000197822.12 | transcript | ENST00000396442.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ODF2L_chr1_86341837_86401323 | 86366408 | A | ACACACAC others(41): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0108 | 1 | 406 | 0.0025 | 48 | c.105 others(67): Show |
ODF2L | ENSG00000122417.16 | transcript | ENST00000460698.7 | protein_coding | 10/16 | chr1 | TogoVar | ||||||
OGFOD3_chr17_82384210_82423586 | 82388843 | C | CCCTCCCC others(41): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp2 others(111): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0002a0001c0001t0013a0001c0002t0001others(18): Show | a0001c0001t0002g0167a0001c0001t0002g0193a0001c0001t0002g0195others(106): Show | 114 | 348 | 0.3276 | 48 | c.*35 others(59): Show |
OGFOD3 | ENSG00000181396.13 | transcript | ENST00000313056.10 | protein_coding | 366 | chr17 | TogoVar |