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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MGAT4C_chr12_85950667_86261391 | 86110268 | C | CTATATAT others(192): Show |
intron_variant | MODIFIER | HG02074.hp2 NA18980.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0043 | a0001c0001t0001g0045 a0001c0001t0043g0039 |
2 | 186 | 0.0108 | 199 | c.-56 others(218): Show |
MGAT4C | ENSG00000182050.14 | transcript | ENST00000611864.5 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237543378 | G | GTGGCAAG others(192): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0066 | 1 | 286 | 0.0035 | 199 | c.153 others(216): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43432834 | A | AGAGAGAG others(192): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0074 | 1 | 250 | 0.0040 | 199 | c.225 others(216): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MSLN_chr16_755734_773862 | 767808 | C | CGTGGAGG others(192): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0009 | a0009c0010 | a0009c0010t0002 | a0009c0010t0002g0048 | 1 | 388 | 0.0026 | 199 | c.159 others(216): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MTRF1L_chr6_152982362_153007709 | 153005618 | T | TTTACCGT others(192): Show |
upstream_gene_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 467 | 0.0021 | 199 | c.-29 others(210): Show |
MTRF1L | ENSG00000112031.16 | transcript | ENST00000367233.10 | protein_coding | 2910 | chr6 | TogoVar | |||||||
MUSK_chr9_110663791_110811558 | 110681088 | T | TATATTAA others(192): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02559.hp1 HG02615.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0003a0001c0001t0009a0001c0001t0034others(1): Show | a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0009g0155 others(3): Show |
6 | 326 | 0.0184 | 199 | c.80- others(214): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MXRA5_chrX_3303565_3351652 | 3326168 | T | TTTATAAT others(192): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0136 | 1 | 284 | 0.0035 | 199 | c.710 others(216): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 4/6 | chrX | TogoVar | |||||||
MXRA5_chrX_3303565_3351652 | 3326168 | T | TTTATAAT others(192): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00544.hp2 others(63): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0002c0024others(13): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0008others(14): Show | a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 others(59): Show |
66 | 284 | 0.2324 | 199 | c.710 others(216): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 4/6 | chrX | TogoVar | |||||||
MXRA5_chrX_3303565_3351652 | 3326182 | T | TTTATAAT others(192): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03195.hp1 HG03453.hp1 others(1): Show |
a0002a0006 | a0002c0002a0006c0011 | a0002c0002t0001a0006c0011t0002 | a0002c0002t0001g0003 a0006c0011t0002g0128 |
4 | 284 | 0.0141 | 199 | c.710 others(216): Show |
MXRA5 | ENSG00000101825.8 | transcript | ENST00000217939.7 | protein_coding | 4/6 | chrX | TogoVar | |||||||
MYCBP2_chr13_77039657_77332094 | 77174910 | T | TAATATAT others(192): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0053 | 1 | 334 | 0.0030 | 199 | c.547 others(216): Show |
MYCBP2 | ENSG00000005810.20 | transcript | ENST00000544440.7 | protein_coding | 36/82 | chr13 | TogoVar | |||||||
MYNN_chr3_169768396_169794716 | 169771253 | A | ATTTATAT others(192): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0097 | 1 | 350 | 0.0029 | 199 | c.-22 others(210): Show |
MYNN | ENSG00000085274.16 | transcript | ENST00000349841.10 | protein_coding | 2142 | chr3 | TogoVar | |||||||
NCAPG2_chr7_158626169_158709804 | 158667782 | C | CTTACCGA others(192): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 | 1 | 378 | 0.0027 | 199 | c.148 others(218): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
NCS1_chr9_130167404_130242303 | 130221881 | A | AATATAAA others(192): Show |
intron_variant | MODIFIER | HG03098.hp2 NA18522.hp1 NA18945.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0023a0001c0001t0090others(2): Show | a0001c0001t0006g0228 a0001c0001t0023g0104 a0001c0001t0090g0275 others(2): Show |
5 | 348 | 0.0144 | 199 | c.308 others(214): Show |
NCS1 | ENSG00000107130.10 | transcript | ENST00000372398.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NEU4_chr2_241804193_241822413 | 241807271 | G | GCCCAGGG others(192): Show |
upstream_gene_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 319 | 0.0031 | 199 | c.-20 others(210): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1921 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241807931 | T | TCCCTCCC others(192): Show |
upstream_gene_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 319 | 0.0031 | 199 | c.-13 others(210): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1261 | chr2 | TogoVar | |||||||
NFATC2_chr20_51381963_51547719 | 51500818 | A | ACCACCCC others(192): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01071.hp1 HG01074.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0002g0100 a0001c0001t0005g0095 a0001c0001t0007g0064 others(1): Show |
4 | 316 | 0.0127 | 199 | c.133 others(220): Show |
NFATC2 | ENSG00000101096.20 | transcript | ENST00000371564.8 | protein_coding | 3/10 | chr20 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTATAC others(192): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0352 | 1 | 362 | 0.0028 | 199 | c.-75 others(218): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NGEF_chr2_232873701_233018256 | 232995533 | C | CTGTATAT others(192): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0041 | 1 | 362 | 0.0028 | 199 | c.-75 others(218): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
NLRP13_chr19_55890945_55937336 | 55931710 | A | AAAGAAAG others(192): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0002 | a0002c0015 | a0002c0015t0001 | a0002c0015t0001g0078 | 1 | 440 | 0.0023 | 199 | c.319 others(214): Show |
NLRP13 | ENSG00000173572.12 | transcript | ENST00000342929.4 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
NLRP13_chr19_55890945_55937336 | 55931710 | A | AAAGAAAG others(192): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0174 | 1 | 440 | 0.0023 | 199 | c.319 others(214): Show |
NLRP13 | ENSG00000173572.12 | transcript | ENST00000342929.4 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
NLRP13_chr19_55890945_55937336 | 55931710 | A | AAAGAAAG others(192): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0087 | 1 | 440 | 0.0023 | 199 | c.319 others(214): Show |
NLRP13 | ENSG00000173572.12 | transcript | ENST00000342929.4 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
NLRP13_chr19_55890945_55937336 | 55931716 | A | AGAAAGAC others(192): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0111 | 1 | 440 | 0.0023 | 199 | c.319 others(214): Show |
NLRP13 | ENSG00000173572.12 | transcript | ENST00000342929.4 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
NLRP4_chr19_55831540_55886855 | 55849894 | C | CTGCGGTG others(192): Show |
intron_variant | MODIFIER | NA18950.hp1 NA19091.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0085 a0002c0003t0001g0086 |
2 | 424 | 0.0047 | 199 | c.-65 others(216): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
NLRP4_chr19_55831540_55886855 | 55851526 | T | TGTCCGAG others(192): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0002 | a0002c0003 | a0002c0003t0011 | a0002c0003t0011g0385 | 1 | 424 | 0.0024 | 199 | c.-65 others(214): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | chr19 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136535880 | G | GGTGGAGG others(192): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0018 | a0018c0033 | a0018c0033t0007 | a0018c0033t0007g0197 | 1 | 324 | 0.0031 | 199 | c.140 others(216): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCTCCCCA others(192): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0128 | 1 | 326 | 0.0031 | 199 | c.433 others(216): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
NUP93_chr16_56725129_56855286 | 56808552 | A | ATAGTTAT others(192): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01255.hp1 |
a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0048 a0001c0002t0010g0049 a0001c0002t0010g0050 |
3 | 378 | 0.0079 | 199 | c.489 others(216): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ODF3_chr11_191761_205258 | 196510 | C | CTGGTGAG others(192): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG00639.hp1 others(60): Show |
a0001a0004a0006 | a0001c0001a0004c0006a0006c0010 | a0001c0001t0001a0001c0001t0007a0004c0006t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(4): Show |
63 | 388 | 0.1624 | 199 | c.-54 others(208): Show |
ODF3 | ENSG00000177947.15 | transcript | ENST00000325113.9 | protein_coding | 250 | chr11 | TogoVar | |||||||
OPRL1_chr20_64075082_64105633 | 64094364 | T | TGGGGGCA others(192): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01167.hp2 HG01169.hp2 others(5): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0001t0006a0001c0001t0020others(1): Show | a0001c0001t0003g0007 a0001c0001t0003g0039 a0001c0001t0003g0044 others(3): Show |
8 | 66 | 0.1212 | 199 | c.233 others(216): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
OR11H4_chr14_20234286_20249349 | 20237762 | C | CTATATAG others(192): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0019 | 1 | 439 | 0.0023 | 199 | c.-15 others(210): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1523 | chr14 | TogoVar | |||||||
OR2T12_chr1_248285139_248308424 | 248306763 | G | GCCTGAGG others(192): Show |
upstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0006 | 1 | 406 | 0.0025 | 199 | c.-36 others(210): Show |
OR2T12 | ENSG00000177201.3 | transcript | ENST00000641276.1 | protein_coding | 3340 | chr1 | TogoVar | |||||||
OR5AN1_chr11_59353895_59376714 | 59356682 | A | AGAGGGGA others(192): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 358 | 0.0028 | 199 | c.-26 others(210): Show |
OR5AN1 | ENSG00000176495.3 | transcript | ENST00000641998.1 | protein_coding | 2212 | chr11 | TogoVar | |||||||
OSBPL10_chr3_31655825_31986262 | 31857789 | G | GAGAGACA others(192): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03195.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0006 | a0001c0001t0001g0111 a0001c0002t0006g0184 |
2 | 186 | 0.0108 | 199 | c.537 others(218): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 3/11 | chr3 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3685849 | C | CCCCCGCC others(192): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 362 | 0.0028 | 199 | c.981 others(216): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
PALD1_chr10_70473767_70573450 | 70554970 | T | TCCTCCCC others(192): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02723.hp1 HG02818.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0048a0001c0004t0010a0001c0004t0030others(1): Show | a0001c0001t0048g0227 a0001c0004t0010g0204 a0001c0004t0010g0287 others(4): Show |
7 | 308 | 0.0227 | 199 | c.226 others(218): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PASD1_chrX_151558675_151681739 | 151562915 | G | GGCGGGGG others(192): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0004 | a0004c0025 | a0004c0025t0002 | a0004c0025t0002g0192 | 1 | 221 | 0.0045 | 199 | c.-95 others(208): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 759 | chrX | TogoVar | |||||||
PASD1_chrX_151558675_151681739 | 151562916 | C | CGGGGGGT others(192): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0184 | 1 | 221 | 0.0045 | 199 | c.-95 others(208): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 758 | chrX | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45909792 | C | CCCCCCCC others(192): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0265 | 1 | 292 | 0.0034 | 199 | c.471 others(214): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924976 | G | GTAGAAAC others(192): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0272 | 1 | 292 | 0.0034 | 199 | c.718 others(216): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDE6B_chr4_620573_675782 | 660984 | A | AATGGATG others(192): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02809.hp1 HG02895.hp2 |
a0001 | a0001c0002a0001c0033 | a0001c0002t0001a0001c0033t0001 | a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0033t0001g0026 |
3 | 308 | 0.0097 | 199 | c.161 others(216): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDIA6_chr2_10778391_10817785 | 10806628 | C | CAAAAGAA others(192): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0203 | 1 | 342 | 0.0029 | 199 | c.20- others(214): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
PDXK_chr21_43714129_43767299 | 43741395 | G | GGGGGGCT others(192): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 358 | 0.0028 | 199 | c.143 others(214): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PGAM5_chr12_132705842_132727734 | 132727539 | C | CGCCCGGG others(192): Show |
downstream_gene_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0192 | 1 | 394 | 0.0025 | 199 | c.*67 others(210): Show |
PGAM5 | ENSG00000247077.8 | transcript | ENST00000498926.7 | protein_coding | 4806 | chr12 | TogoVar | |||||||
PGAM5_chr12_132705842_132727734 | 132727539 | C | CGCCCGGG others(192): Show |
downstream_gene_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 394 | 0.0025 | 199 | c.*67 others(210): Show |
PGAM5 | ENSG00000247077.8 | transcript | ENST00000498926.7 | protein_coding | 4806 | chr12 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109340619 | C | CCTCTCCT others(192): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0075 | 1 | 346 | 0.0029 | 199 | c.200 others(218): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 9/9 | chr5 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51981304 | G | GCTCCCCC others(192): Show |
intron_variant | MODIFIER | HG02683.hp2 HG03239.hp2 HG04228.hp1 |
a0004a0024a0037 | a0004c0006a0024c0051a0037c0043 | a0004c0006t0003a0024c0051t0001a0037c0043t0002 | a0004c0006t0003g0040 a0024c0051t0001g0023 a0037c0043t0002g0051 |
3 | 134 | 0.0224 | 199 | c.575 others(220): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
PRIM2_chr6_57312630_57651850 | 57354256 | T | TAAAAAAT others(192): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0177 | 1 | 300 | 0.0033 | 199 | c.460 others(218): Show |
PRIM2 | ENSG00000146143.19 | transcript | ENST00000615550.5 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PRIMPOL_chr4_184644738_184699952 | 184676452 | T | TCTCCCTT others(192): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 328 | 0.0031 | 199 | c.845 others(216): Show |
PRIMPOL | ENSG00000164306.11 | transcript | ENST00000314970.11 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PRKCA_chr17_66297613_66815743 | 66799514 | G | GTGGTGGT others(192): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0052 | 1 | 178 | 0.0056 | 199 | c.185 others(218): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2122986 | G | GCTGTAGT others(192): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 286 | 0.0035 | 199 | c.335 others(218): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | chr1 | TogoVar |