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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPATS2L_chr2_200301693_200487264 | 200418581 | TAATAAAT others(5): Show |
T | intron_variant | MODIFIER | HG02145.hp2 | a0003 | a0003c0008 | a0003c0008t0058 | a0003c0008t0058g0098 | 1 | 300 | 0.0033 | -12 | c.199 others(27): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200442510 | CTAGAGGC others(5): Show |
C | intron_variant | MODIFIER | HG04184.hp2 NA18962.hp1 NA18962.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0033others(2): Show | a0001c0001t0003g0092 a0001c0001t0004g0036 a0001c0001t0033g0025 others(3): Show |
6 | 300 | 0.0200 | -12 | c.788 others(29): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200474751 | TAGGTAAT others(5): Show |
T | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0028 | 1 | 300 | 0.0033 | -12 | c.128 others(31): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49375141 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG01069.hp2 HG01071.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 others(9): Show |
12 | 158 | 0.0760 | -12 | c.-24 others(31): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49376092 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0068 a0001c0001t0004g0123 |
2 | 158 | 0.0127 | -12 | c.-24 others(31): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49403594 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01069.hp1 HG01071.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0003a0002c0006t0001 | a0001c0001t0001g0036 a0001c0001t0001g0098 a0001c0001t0001g0117 others(10): Show |
13 | 158 | 0.0823 | -12 | c.-24 others(33): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49409592 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0149 | 1 | 158 | 0.0063 | -12 | c.-24 others(33): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49435638 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01175.hp1 HG01192.hp1 others(41): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0058 others(41): Show |
44 | 158 | 0.2785 | -12 | c.-24 others(33): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49442785 | TTAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01175.hp1 HG01192.hp1 others(24): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0006 a0001c0001t0002g0007 a0001c0001t0002g0047 others(24): Show |
27 | 158 | 0.1709 | -12 | c.-24 others(33): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 2/13 | chr12 | TogoVar | |||||||
SPATS2_chr12_49362462_49532425 | 49468463 | TTTTTTGT others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG01069.hp2 HG01071.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(8): Show |
11 | 158 | 0.0696 | -12 | c.25+ others(27): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49516158 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0064 | 1 | 158 | 0.0063 | -12 | c.898 others(29): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49516166 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0031 | 1 | 158 | 0.0063 | -12 | c.898 others(29): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPC24_chr19_11140493_11160782 | 11142503 | TGGTGCCT others(5): Show |
T | downstream_gene_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0170 | a0001c0001t0170g0105 | 1 | 438 | 0.0023 | -12 | c.*46 others(23): Show |
SPC24 | ENSG00000161888.12 | transcript | ENST00000592540.6 | protein_coding | 2989 | chr19 | TogoVar | |||||||
SPC24_chr19_11140493_11160782 | 11158483 | AAAAAAAA others(5): Show |
A | upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0129 | a0001c0001t0129g0296 | 1 | 438 | 0.0023 | -12 | c.-27 others(23): Show |
SPC24 | ENSG00000161888.12 | transcript | ENST00000592540.6 | protein_coding | 2702 | chr19 | TogoVar | |||||||
SPC25_chr2_168865891_168895430 | 168888982 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02486.hp2 HG02647.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0018 a0001c0001t0001g0110 a0001c0001t0001g0111 others(2): Show |
9 | 360 | 0.0250 | -12 | c.199 others(27): Show |
SPC25 | ENSG00000152253.9 | transcript | ENST00000282074.7 | protein_coding | 3/6 | chr2 | TogoVar | |||||||
SPCS2_chr11_74944266_74984033 | 74955851 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG02040.hp1 HG02258.hp2 HG02280.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0001g0139 others(2): Show |
11 | 378 | 0.0291 | -12 | c.114 others(29): Show |
SPCS2 | ENSG00000118363.13 | transcript | ENST00000263672.11 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPCS3_chr4_176314966_176337245 | 176334634 | TATATATA others(5): Show |
T | downstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 470 | 0.0021 | -12 | c.*63 others(23): Show |
SPCS3 | ENSG00000129128.13 | transcript | ENST00000503362.2 | protein_coding | 2390 | chr4 | TogoVar | |||||||
SPCS3_chr4_176314966_176337245 | 176334636 | TATATACA others(5): Show |
T | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(71): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0013others(7): Show | a0001c0001t0003g0003 a0001c0001t0003g0029 a0001c0001t0003g0031 others(19): Show |
74 | 470 | 0.1575 | -12 | c.*63 others(23): Show |
SPCS3 | ENSG00000129128.13 | transcript | ENST00000503362.2 | protein_coding | 2392 | chr4 | TogoVar | |||||||
SPDL1_chr5_169578773_169609778 | 169605573 | TGATAGAT others(5): Show |
T | downstream_gene_variant | MODIFIER | HG02717.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0043 | 2 | 398 | 0.0050 | -12 | c.*13 others(23): Show |
SPDL1 | ENSG00000040275.17 | transcript | ENST00000265295.9 | protein_coding | 796 | chr5 | TogoVar | |||||||
SPDYA_chr2_28805834_28855610 | 28819847 | AAAATATA others(5): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0324 | 1 | 338 | 0.0030 | -12 | c.294 others(27): Show |
SPDYA | ENSG00000163806.16 | transcript | ENST00000334056.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPDYA_chr2_28805834_28855610 | 28819849 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG03831.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 a0001c0001t0001g0283 a0001c0001t0001g0323 |
3 | 338 | 0.0089 | -12 | c.294 others(27): Show |
SPDYA | ENSG00000163806.16 | transcript | ENST00000334056.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPDYA_chr2_28805834_28855610 | 28823702 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG00738.hp2 HG02451.hp2 others(19): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0005 | a0001c0001t0001a0001c0004t0001a0003c0005t0001 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(19): Show |
22 | 338 | 0.0651 | -12 | c.380 others(29): Show |
SPDYA | ENSG00000163806.16 | transcript | ENST00000334056.10 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPDYA_chr2_28805834_28855610 | 28846722 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02818.hp2 HG03098.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0247 a0001c0001t0003g0194 a0001c0001t0003g0196 others(1): Show |
4 | 338 | 0.0118 | -12 | c.851 others(29): Show |
SPDYA | ENSG00000163806.16 | transcript | ENST00000334056.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPDYC_chr11_65165233_65178374 | 65166391 | CTTTTTTT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp2 HG04199.hp1 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 442 | 0.0068 | -12 | c.-39 others(23): Show |
SPDYC | ENSG00000204710.3 | transcript | ENST00000377185.3 | protein_coding | 3841 | chr11 | TogoVar | |||||||
SPDYE10_chr7_73099008_73160431 | 73119439 | GCTTACAT others(5): Show |
G | intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0154 | 1 | 216 | 0.0046 | -12 | c.-63 others(31): Show |
SPDYE10 | ENSG00000274570.6 | transcript | ENST00000691996.1 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
SPDYE10_chr7_73099008_73160431 | 73134296 | TCACTCAT others(5): Show |
T | intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0169 | 1 | 216 | 0.0046 | -12 | c.-63 others(33): Show |
SPDYE10 | ENSG00000274570.6 | transcript | ENST00000691996.1 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
SPDYE10_chr7_73099008_73160431 | 73137593 | TGAAAGAA others(5): Show |
T | intron_variant | MODIFIER | HG02056.hp2 HG02809.hp2 HG02886.hp2 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0003others(2): Show | a0001c0001t0002a0001c0005t0002a0002c0003t0004others(2): Show | a0001c0001t0002g0012 a0001c0001t0002g0018 a0001c0001t0002g0021 others(7): Show |
10 | 216 | 0.0463 | -12 | c.-64 others(33): Show |
SPDYE10 | ENSG00000274570.6 | transcript | ENST00000691996.1 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
SPDYE12_chr7_74899289_74920078 | 74907732 | GATAAATA others(5): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG01109.hp1 HG01243.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0002 a0001c0001t0003g0029 a0001c0001t0003g0030 others(8): Show |
32 | 350 | 0.0914 | -12 | c.495 others(27): Show |
SPDYE12 | ENSG00000184616.12 | transcript | ENST00000618416.5 | protein_coding | 5/7 | chr7 | TogoVar | |||||||
SPDYE12_chr7_74899289_74920078 | 74912770 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00597.hp2 others(24): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0007 a0001c0001t0001g0110 a0001c0001t0001g0111 others(17): Show |
27 | 350 | 0.0771 | -12 | c.130 others(27): Show |
SPDYE12 | ENSG00000184616.12 | transcript | ENST00000618416.5 | protein_coding | 2/7 | chr7 | TogoVar | |||||||
SPDYE12_chr7_74899289_74920078 | 74918935 | TTGTGTGT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00673.hp1 HG01884.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0032 a0001c0001t0001g0073 others(11): Show |
18 | 350 | 0.0514 | -12 | c.-44 others(23): Show |
SPDYE12 | ENSG00000184616.12 | transcript | ENST00000618416.5 | protein_coding | 3858 | chr7 | TogoVar | |||||||
SPDYE18_chr7_77045391_77067558 | 77048672 | CAAAAAAA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(159): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(14): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(103): Show |
162 | 416 | 0.3894 | -12 | c.*32 others(23): Show |
SPDYE18 | ENSG00000205482.11 | transcript | ENST00000510091.4 | protein_coding | 1718 | chr7 | TogoVar | |||||||
SPDYE18_chr7_77045391_77067558 | 77064468 | ACATACAT others(5): Show |
A | upstream_gene_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0242 | 1 | 416 | 0.0024 | -12 | c.-24 others(23): Show |
SPDYE18 | ENSG00000205482.11 | transcript | ENST00000510091.4 | protein_coding | 1911 | chr7 | TogoVar | |||||||
SPDYE1_chr7_43992897_44015124 | 43994386 | AAAAGAAA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG03710.hp1 HG03834.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 a0002c0002t0001g0008 |
2 | 394 | 0.0051 | -12 | c.-39 others(23): Show |
SPDYE1 | ENSG00000136206.5 | transcript | ENST00000693451.1 | protein_coding | 3510 | chr7 | TogoVar | |||||||
SPDYE21_chr7_67271941_67294005 | 67274831 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG01106.hp2 HG01175.hp2 HG04184.hp1 others(9): Show |
a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0007 a0004c0004t0004g0014 a0004c0004t0004g0028 others(6): Show |
12 | 460 | 0.0261 | -12 | c.-26 others(23): Show |
SPDYE21 | ENSG00000230358.6 | transcript | ENST00000424157.4 | protein_coding | 2109 | chr7 | TogoVar | |||||||
SPDYE2_chr7_102546226_102568538 | 102549251 | CGTGTGTG others(5): Show |
C | upstream_gene_variant | MODIFIER | NA19012.hp2 NA19054.hp1 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0112 a0003c0003t0002g0117 |
2 | 164 | 0.0122 | -12 | c.-24 others(23): Show |
SPDYE2 | ENSG00000205238.12 | transcript | ENST00000691607.2 | protein_coding | 1974 | chr7 | TogoVar | |||||||
SPDYE2_chr7_102546226_102568538 | 102555249 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG01255.hp1 HG02109.hp2 NA19004.hp2 |
a0001a0004 | a0001c0023a0004c0005a0004c0028 | a0001c0023t0024a0004c0005t0007a0004c0028t0029 | a0001c0023t0024g0047 a0004c0005t0007g0136 a0004c0028t0029g0075 |
3 | 164 | 0.0183 | -12 | c.380 others(27): Show |
SPDYE2 | ENSG00000205238.12 | transcript | ENST00000691607.2 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPDYE2_chr7_102546226_102568538 | 102559002 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01070.hp2 HG01175.hp2 others(8): Show |
a0001a0003a0004 | a0001c0001a0001c0007a0001c0032others(2): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0017others(4): Show | a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0009g0115 others(8): Show |
11 | 164 | 0.0671 | -12 | c.755 others(27): Show |
SPDYE2 | ENSG00000205238.12 | transcript | ENST00000691607.2 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPDYE5_chr7_75487320_75509316 | 75498110 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(205): Show |
a0001a0002a0006others(7): Show | a0001c0001a0001c0005a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0020a0001c0005t0001others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(81): Show |
208 | 408 | 0.5098 | -12 | c.669 others(27): Show |
SPDYE5 | ENSG00000170092.15 | transcript | ENST00000625065.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPDYE6_chr7_102340746_102361444 | 102351918 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0204 | 1 | 439 | 0.0023 | -12 | c.669 others(27): Show |
SPDYE6 | ENSG00000260097.3 | transcript | ENST00000563237.3 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
SPDYE9_chr7_73070972_73091038 | 73083718 | CCTTCTTT others(5): Show |
C | intron_variant | MODIFIER | HG03579.hp2 | a0007 | a0007c0007 | a0007c0007t0012 | a0007c0007t0012g0067 | 1 | 164 | 0.0061 | -12 | c.130 others(27): Show |
SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | TogoVar | |||||||
SPDYE9_chr7_73070972_73091038 | 73083734 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 164 | 0.0061 | -12 | c.130 others(27): Show |
SPDYE9 | ENSG00000262461.7 | transcript | ENST00000575125.6 | protein_coding | 2/7 | chr7 | TogoVar | |||||||
SPECC1L_chr22_24265831_24422738 | 24270290 | CGTATATA others(5): Show |
C | upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0009 | 1 | 326 | 0.0031 | -12 | c.-83 others(21): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 540 | chr22 | TogoVar | |||||||
SPECC1L_chr22_24265831_24422738 | 24325538 | GATTTATT others(5): Show |
G | intron_variant | MODIFIER | HG03516.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0030 | a0001c0001t0002g0078 a0001c0001t0030g0009 |
2 | 326 | 0.0061 | -12 | c.214 others(31): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SPECC1L_chr22_24265831_24422738 | 24325569 | TTATTTAT others(5): Show |
T | intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0010 | a0001c0010t0035 | a0001c0010t0035g0067 | 1 | 326 | 0.0031 | -12 | c.214 others(31): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 6/16 | chr22 | TogoVar | |||||||
SPECC1L_chr22_24265831_24422738 | 24363928 | GGTGGGGG others(5): Show |
G | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0267 | 1 | 326 | 0.0031 | -12 | c.282 others(29): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SPECC1L_chr22_24265831_24422738 | 24383792 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG02080.hp1 HG03209.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0016others(2): Show | a0001c0001t0001g0264 a0001c0001t0004g0014 a0001c0001t0004g0015 others(21): Show |
24 | 326 | 0.0736 | -12 | c.308 others(33): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20019207 | CATTCATT others(5): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG01168.hp1 others(32): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0014a0001c0001t0090a0001c0001t0102others(20): Show | a0001c0001t0014g0174 a0001c0001t0014g0175 a0001c0001t0014g0176 others(32): Show |
35 | 250 | 0.1400 | -12 | c.-22 others(29): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20030149 | GTACCCTG others(5): Show |
G | intron_variant | MODIFIER | HG02074.hp1 | a0003 | a0003c0004 | a0003c0004t0016 | a0003c0004t0016g0219 | 1 | 250 | 0.0040 | -12 | c.-22 others(31): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
SPECC1_chr17_20004359_20324026 | 20051064 | TTCTTTTT others(5): Show |
T | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0083 | a0001c0001t0083g0167 | 1 | 250 | 0.0040 | -12 | c.-22 others(31): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20051068 | TTTTCTTT others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG01081.hp1 HG01106.hp1 others(22): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0008others(3): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0010others(16): Show | a0001c0001t0002g0131 a0001c0001t0002g0169 a0001c0001t0006g0157 others(22): Show |
25 | 250 | 0.1000 | -12 | c.-22 others(31): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |