| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NOTCH1_chr9_136489433_136551048 | 136535509 | G | GGTGGGGG others(248): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG00609.hp2 others(10): Show |
a0001a0024 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0033others(5): Show | a0001c0001t0001g0181a0001c0001t0001g0201a0001c0001t0001g0315others(10): Show | 13 | 324 | 0.0401 | 255 | c.140 others(272): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
| NOTCH1_chr9_136489433_136551048 | 136535680 | G | GCACTCAG others(248): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0219a0001c0001t0004g0163 | 2 | 324 | 0.0062 | 255 | c.140 others(272): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
| NOTCH1_chr9_136489433_136551048 | 136535833 | A | AGGGGGGA others(248): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0187 | 1 | 324 | 0.0031 | 255 | c.140 others(272): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
| NXN_chr17_794310_984776 | 952256 | A | ACAGACCA others(248): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 242 | 0.0041 | 255 | c.360 others(274): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
| ODF3_chr11_191761_205258 | 196510 | C | CTGGTGAG others(248): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 388 | 0.0026 | 255 | c.-54 others(264): Show |
ODF3 | ENSG00000177947.15 | transcript | ENST00000325113.9 | protein_coding | 250 | chr11 | TogoVar | ||||||
| OIP5_chr15_41304273_41337591 | 41327585 | T | TAAGACCA others(248): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0038 | 1 | 356 | 0.0028 | 255 | c.389 others(272): Show |
OIP5 | ENSG00000104147.9 | transcript | ENST00000220514.8 | protein_coding | 2/4 | chr15 | TogoVar | ||||||
| OR4F17_chr19_102104_118156 | 107934 | T | TTATTATA others(248): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 227 | 0.0044 | 255 | c.-55 others(270): Show |
OR4F17 | ENSG00000176695.8 | transcript | ENST00000585993.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| OR4F17_chr19_102104_118156 | 107961 | T | TAATATAT others(248): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 227 | 0.0044 | 255 | c.-55 others(270): Show |
OR4F17 | ENSG00000176695.8 | transcript | ENST00000585993.3 | protein_coding | 2/2 | chr19 | TogoVar | ||||||
| PAK1_chr11_77317017_77479094 | 77332356 | A | AGGGAAGG others(248): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0284 | 1 | 302 | 0.0033 | 255 | c.155 others(272): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 14/14 | chr11 | TogoVar | ||||||
| PALD1_chr10_70473767_70573450 | 70554970 | T | TCCTCCCC others(248): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02559.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0006a0001c0004t0014 | a0001c0001t0006g0126a0001c0004t0014g0179 | 2 | 308 | 0.0065 | 255 | c.226 others(274): Show |
PALD1 | ENSG00000107719.10 | transcript | ENST00000263563.7 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PCBP3_chr21_45638725_45947450 | 45909792 | C | CCCCCCCA others(248): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 | 1 | 292 | 0.0034 | 255 | c.471 others(270): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PCBP3_chr21_45638725_45947450 | 45909792 | C | CCCCCCCC others(248): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0177 | 1 | 292 | 0.0034 | 255 | c.471 others(270): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PDCD6_chr5_266646_319974 | 318187 | A | ACCCTGCA others(248): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 HG00741.hp1 HG01109.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0161a0001c0001t0001g0162others(6): Show | 10 | 360 | 0.0278 | 255 | c.*36 others(266): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3214 | chr5 | TogoVar | ||||||
| PDCD6_chr5_266646_319974 | 318187 | A | ACCCTGCA others(248): Show |
downstream_gene_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0332 | 1 | 360 | 0.0028 | 255 | c.*36 others(266): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3214 | chr5 | TogoVar | ||||||
| PDCD6_chr5_266646_319974 | 318187 | A | ACCCTGCA others(248): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00438.hp2 others(108): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0004a0001c0001t0001g0022a0001c0001t0001g0093others(100): Show | 111 | 360 | 0.3083 | 255 | c.*36 others(266): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3214 | chr5 | TogoVar | ||||||
| PDCD6_chr5_266646_319974 | 318187 | A | ACCCTGCA others(248): Show |
downstream_gene_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 360 | 0.0028 | 255 | c.*36 others(266): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3214 | chr5 | TogoVar | ||||||
| PDIA6_chr2_10778391_10817785 | 10806628 | C | CAAAGAAA others(248): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0152 | 1 | 342 | 0.0029 | 255 | c.20- others(270): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
| PERM1_chr1_970198_987093 | 977667 | A | ACCAACCC others(248): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0229 | 1 | 408 | 0.0025 | 255 | c.215 others(274): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
| PEX10_chr1_2398974_2417564 | 2401341 | T | TCTCCTCC others(248): Show |
downstream_gene_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 358 | 0.0028 | 255 | c.*44 others(266): Show |
PEX10 | ENSG00000157911.11 | transcript | ENST00000447513.7 | protein_coding | 2632 | chr1 | TogoVar | ||||||
| PFKP_chr10_3062548_3141802 | 3106725 | G | GCCCCTCT others(248): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0014 | a0001c0014t0004 | a0001c0014t0004g0162 | 1 | 402 | 0.0025 | 255 | c.775 others(270): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PFKP_chr10_3062548_3141802 | 3106725 | G | GCCCCTCT others(248): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0067 | a0001c0067t0005 | a0001c0067t0005g0270 | 1 | 402 | 0.0025 | 255 | c.775 others(270): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PLEKHN1_chr1_961482_980865 | 977667 | A | ACCAACCC others(248): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0009 | a0001c0009t0010 | a0001c0009t0010g0015 | 1 | 422 | 0.0024 | 255 | c.*30 others(266): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1803 | chr1 | TogoVar | ||||||
| PRKCZ_chr1_2045411_2190395 | 2122568 | C | CACGGCTG others(248): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 286 | 0.0035 | 255 | c.335 others(274): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | chr1 | TogoVar | ||||||
| PRKCZ_chr1_2045411_2190395 | 2122842 | G | GTCACGGC others(248): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0031 | 1 | 286 | 0.0035 | 255 | c.335 others(274): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PTK6_chr20_63523001_63542376 | 63535794 | T | TCCTCACC others(248): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0226 | 1 | 344 | 0.0029 | 255 | c.231 others(270): Show |
PTK6 | ENSG00000101213.7 | transcript | ENST00000542869.3 | protein_coding | 1/7 | chr20 | TogoVar | ||||||
| PTK6_chr20_63523001_63542376 | 63535950 | G | GCCCCCTC others(248): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02630.hp2 HG03579.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0034a0001c0002t0003g0240 | 3 | 344 | 0.0087 | 255 | c.231 others(270): Show |
PTK6 | ENSG00000101213.7 | transcript | ENST00000542869.3 | protein_coding | 1/7 | chr20 | TogoVar | ||||||
| PTP4A3_chr8_141387021_141437454 | 141430064 | G | GCACAGTC others(248): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0058 | 1 | 323 | 0.0031 | 255 | c.405 others(270): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| PTTG1IP_chr21_44844598_44878690 | 44863291 | G | GCCACGGC others(248): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02723.hp2 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0026 | a0001c0001t0007g0052a0001c0001t0007g0263a0001c0001t0026g0262 | 4 | 444 | 0.0090 | 255 | c.169 others(272): Show |
PTTG1IP | ENSG00000183255.12 | transcript | ENST00000330938.8 | protein_coding | 2/5 | chr21 | TogoVar | ||||||
| RAB11FIP3_chr16_420649_528011 | 504412 | G | GTACCCTT others(248): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02145.hp2 HG02622.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0009a0001c0002t0026 | a0001c0002t0009g0081a0001c0002t0009g0254a0001c0002t0009g0269others(2): Show | 5 | 295 | 0.0170 | 255 | c.139 others(274): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | chr16 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114113606 | A | ATCCACCC others(248): Show |
intron_variant | MODIFIER | HG02738.hp1 HG03130.hp1 HG04228.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0017a0001c0005t0001g0015a0001c0005t0001g0016 | 3 | 67 | 0.0448 | 255 | c.55+ others(272): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
| RER1_chr1_2386841_2410436 | 2401341 | T | TCTCCTCC others(248): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 354 | 0.0028 | 255 | c.365 others(270): Show |
RER1 | ENSG00000157916.20 | transcript | ENST00000605895.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RFC1_chr4_39282456_39371362 | 39348424 | A | AAAAAGAA others(248): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0239 | 1 | 276 | 0.0036 | 255 | c.132 others(272): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 2/24 | chr4 | TogoVar | ||||||
| RGS12_chr4_3288021_3444913 | 3341671 | G | GGAGGGTG others(248): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0283 | 1 | 312 | 0.0032 | 255 | c.188 others(274): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| RIPOR3_chr20_50581108_50696542 | 50666183 | A | ATTTCTTC others(248): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0118 | 1 | 280 | 0.0036 | 255 | c.3+2 others(270): Show |
RIPOR3 | ENSG00000042062.13 | transcript | ENST00000327979.8 | protein_coding | 1/21 | chr20 | TogoVar | ||||||
| RNF17_chr13_24759169_24884921 | 24881964 | A | ATATAGAT others(248): Show |
downstream_gene_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 | 1 | 426 | 0.0024 | 255 | c.*22 others(266): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 2044 | chr13 | TogoVar | ||||||
| RNF17_chr13_24759169_24884921 | 24881964 | A | ATATAGAT others(248): Show |
downstream_gene_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0304 | 1 | 426 | 0.0024 | 255 | c.*22 others(266): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 2044 | chr13 | TogoVar | ||||||
| RNF17_chr13_24759169_24884921 | 24882090 | A | ATATAGAT others(248): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 NA19002.hp2 |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0115a0004c0004t0002g0116 | 2 | 426 | 0.0047 | 255 | c.*23 others(266): Show |
RNF17 | ENSG00000132972.19 | transcript | ENST00000255324.10 | protein_coding | 2170 | chr13 | TogoVar | ||||||
| RSPH1_chr21_42467486_42501224 | 42477027 | G | GCCCCCTC others(248): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0003 | a0003c0013 | a0003c0013t0002 | a0003c0013t0002g0191 | 1 | 408 | 0.0025 | 255 | c.727 others(270): Show |
RSPH1 | ENSG00000160188.10 | transcript | ENST00000291536.8 | protein_coding | 7/8 | chr21 | TogoVar | ||||||
| RSPH1_chr21_42467486_42501224 | 42477027 | G | GCCCCCTC others(248): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0118 | 1 | 408 | 0.0025 | 255 | c.727 others(270): Show |
RSPH1 | ENSG00000160188.10 | transcript | ENST00000291536.8 | protein_coding | 7/8 | chr21 | TogoVar | ||||||
| RSPH1_chr21_42467486_42501224 | 42477029 | C | CCCCTCCA others(248): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0210 | 1 | 408 | 0.0025 | 255 | c.727 others(270): Show |
RSPH1 | ENSG00000160188.10 | transcript | ENST00000291536.8 | protein_coding | 7/8 | chr21 | TogoVar | ||||||
| RSPH1_chr21_42467486_42501224 | 42477225 | C | CCCCTCCA others(248): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0115 | 1 | 408 | 0.0025 | 255 | c.727 others(268): Show |
RSPH1 | ENSG00000160188.10 | transcript | ENST00000291536.8 | protein_coding | 7/8 | chr21 | TogoVar | ||||||
| RXRA_chr9_134321455_134445585 | 134444407 | C | CTTCCCCC others(248): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0085 | 1 | 232 | 0.0043 | 255 | c.*77 others(266): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 3823 | chr9 | TogoVar | ||||||
| SAMD11_chr1_918923_949574 | 934792 | A | AGGGGGGG others(248): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0009 | a0009c0013 | a0009c0013t0002 | a0009c0013t0002g0288 | 1 | 434 | 0.0023 | 255 | c.843 others(270): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SARDH_chr9_133658560_133743352 | 133668438 | T | TCCTTCCC others(248): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0034 | a0002c0034t0003 | a0002c0034t0003g0060 | 1 | 262 | 0.0038 | 255 | c.249 others(274): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | ||||||
| SARDH_chr9_133658560_133743352 | 133668454 | T | TCCCTCAC others(248): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0002 | a0002c0008 | a0002c0008t0003 | a0002c0008t0003g0177 | 1 | 262 | 0.0038 | 255 | c.249 others(274): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | ||||||
| SCGB1C1_chr11_188078_199575 | 196510 | C | CTGGTGAG others(248): Show |
downstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0001 | 1 | 354 | 0.0028 | 255 | c.*20 others(266): Show |
SCGB1C1 | ENSG00000188076.3 | transcript | ENST00000342878.3 | protein_coding | 1936 | chr11 | TogoVar | ||||||
| SDCCAG8_chr1_243251041_243505091 | 243480681 | G | GGGATGGA others(248): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 189 | 0.0053 | 255 | c.198 others(274): Show |
SDCCAG8 | ENSG00000054282.16 | transcript | ENST00000366541.8 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SDK1_chr7_3296252_4274000 | 3976059 | G | GCAGAGGA others(248): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0014 | a0001c0014t0018 | a0001c0014t0018g0062 | 1 | 116 | 0.0086 | 255 | c.199 others(274): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | chr7 | TogoVar | ||||||
| SDK1_chr7_3296252_4274000 | 3976110 | G | GTAGAGGG others(248): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0007 | a0001c0007t0021 | a0001c0007t0021g0110 | 1 | 116 | 0.0086 | 255 | c.199 others(274): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | chr7 | TogoVar | ||||||
| SDK1_chr7_3296252_4274000 | 3976161 | G | GCAGAGGG others(248): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0010 | a0010c0019 | a0010c0019t0074 | a0010c0019t0074g0009 | 1 | 116 | 0.0086 | 255 | c.199 others(274): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |