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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPARCL1_chr4_87468335_87534376 | 87469947 | CTTTTTTT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(162): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0003a0001c0006others(10): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(23): Show | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0004 others(152): Show |
165 | 390 | 0.4231 | -8 | c.*38 others(19): Show |
SPARCL1 | ENSG00000152583.13 | transcript | ENST00000282470.11 | protein_coding | 3387 | chr4 | TogoVar | |||||||
SPARCL1_chr4_87468335_87534376 | 87486888 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00597.hp1 NA18969.hp1 NA18974.hp1 others(5): Show |
a0001 | a0001c0003a0001c0006 | a0001c0003t0001a0001c0006t0001 | a0001c0003t0001g0193 a0001c0003t0001g0208 a0001c0003t0001g0209 others(5): Show |
8 | 390 | 0.0205 | -8 | c.153 others(27): Show |
SPARCL1 | ENSG00000152583.13 | transcript | ENST00000282470.11 | protein_coding | 7/10 | chr4 | TogoVar | |||||||
SPARCL1_chr4_87468335_87534376 | 87492783 | GGCACAGG others(1): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00639.hp1 others(80): Show |
a0003a0004a0006others(2): Show | a0003c0004a0003c0012a0004c0005others(4): Show | a0003c0004t0001a0003c0004t0002a0003c0004t0003others(11): Show | a0003c0004t0001g0005 a0003c0004t0001g0019 a0003c0004t0001g0082 others(78): Show |
83 | 390 | 0.2128 | -8 | c.121 others(25): Show |
SPARCL1 | ENSG00000152583.13 | transcript | ENST00000282470.11 | protein_coding | 4/10 | chr4 | TogoVar | |||||||
SPARCL1_chr4_87468335_87534376 | 87492784 | GCACAGGA others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00558.hp1 others(118): Show |
a0002a0009a0013 | a0002c0001a0002c0014a0009c0011others(1): Show | a0002c0001t0001a0002c0001t0002a0002c0001t0006others(3): Show | a0002c0001t0001g0067 a0002c0001t0001g0068 a0002c0001t0001g0069 others(114): Show |
121 | 390 | 0.3103 | -8 | c.121 others(25): Show |
SPARCL1 | ENSG00000152583.13 | transcript | ENST00000282470.11 | protein_coding | 4/10 | chr4 | TogoVar | |||||||
SPARCL1_chr4_87468335_87534376 | 87504135 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG02717.hp2 HG02818.hp2 HG02886.hp2 others(6): Show |
a0001a0002a0004 | a0001c0003a0002c0001a0004c0005 | a0001c0003t0001a0001c0003t0002a0002c0001t0002others(1): Show | a0001c0003t0001g0208 a0001c0003t0002g0274 a0001c0003t0002g0275 others(6): Show |
9 | 390 | 0.0231 | -8 | c.-11 others(25): Show |
SPARCL1 | ENSG00000152583.13 | transcript | ENST00000282470.11 | protein_coding | 1/10 | chr4 | TogoVar | |||||||
SPARCL1_chr4_87468335_87534376 | 87506782 | CATCTATC others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00741.hp1 others(11): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0003t0001a0002c0001t0002 | a0001c0002t0001g0144 a0001c0003t0001g0118 a0001c0003t0001g0119 others(10): Show |
14 | 390 | 0.0359 | -8 | c.-11 others(25): Show |
SPARCL1 | ENSG00000152583.13 | transcript | ENST00000282470.11 | protein_coding | 1/10 | chr4 | TogoVar | |||||||
SPARCL1_chr4_87468335_87534376 | 87506820 | TCTATCTA others(1): Show |
T | intron_variant | MODIFIER | NA18947.hp2 NA18967.hp2 NA18969.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0177 a0001c0003t0001g0244 a0001c0003t0001g0245 others(3): Show |
6 | 390 | 0.0154 | -8 | c.-11 others(25): Show |
SPARCL1 | ENSG00000152583.13 | transcript | ENST00000282470.11 | protein_coding | 1/10 | chr4 | TogoVar | |||||||
SPARCL1_chr4_87468335_87534376 | 87522640 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01243.hp2 HG01884.hp1 others(12): Show |
a0002a0003a0006others(1): Show | a0002c0001a0003c0004a0006c0009others(1): Show | a0002c0001t0001a0002c0001t0002a0003c0004t0002others(2): Show | a0002c0001t0001g0094 a0002c0001t0002g0362 a0002c0001t0002g0368 others(12): Show |
15 | 390 | 0.0385 | -8 | c.-12 others(25): Show |
SPARCL1 | ENSG00000152583.13 | transcript | ENST00000282470.11 | protein_coding | 1/10 | chr4 | TogoVar | |||||||
SPARC_chr5_151656096_151691915 | 151673966 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG00558.hp1 others(42): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0014others(2): Show | a0001c0001t0001g0266 a0001c0001t0006g0150 a0001c0001t0014g0303 others(22): Show |
45 | 442 | 0.1018 | -8 | c.120 others(23): Show |
SPARC | ENSG00000113140.11 | transcript | ENST00000231061.9 | protein_coding | 3/9 | chr5 | TogoVar | |||||||
SPARC_chr5_151656096_151691915 | 151674002 | GTGTGTGC others(1): Show |
G | intron_variant | MODIFIER | NA18950.hp2 NA18963.hp2 NA19009.hp1 others(2): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0009t0002 | a0001c0001t0002g0033 a0001c0001t0002g0074 a0001c0001t0002g0165 others(1): Show |
5 | 442 | 0.0113 | -8 | c.120 others(23): Show |
SPARC | ENSG00000113140.11 | transcript | ENST00000231061.9 | protein_coding | 3/9 | chr5 | TogoVar | |||||||
SPATA12_chr3_57055664_57080432 | 57070984 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(70): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0035 a0001c0001t0001g0047 a0001c0001t0001g0159 others(34): Show |
73 | 440 | 0.1659 | -8 | c.-32 others(27): Show |
SPATA12 | ENSG00000186451.2 | transcript | ENST00000334325.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24173362 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(88): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(67): Show | a0001c0001t0002g0094 a0001c0001t0002g0162 a0001c0001t0002g0164 others(88): Show |
91 | 356 | 0.2556 | -8 | c.-11 others(29): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24189489 | ATATACGT others(1): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02818.hp1 HG02970.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0104a0001c0002t0050a0001c0004t0093others(3): Show | a0001c0001t0104g0030 a0001c0002t0050g0027 a0001c0004t0093g0055 others(3): Show |
6 | 356 | 0.0169 | -8 | c.-11 others(29): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24201031 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG02109.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0044a0001c0002t0050a0001c0002t0081others(17): Show | a0001c0001t0044g0018 a0001c0002t0050g0338 a0001c0002t0081g0208 others(17): Show |
20 | 356 | 0.0562 | -8 | c.-11 others(29): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24233886 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00639.hp1 others(66): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0003a0001c0004others(16): Show | a0001c0001t0005a0001c0003t0004a0001c0003t0005others(55): Show | a0001c0001t0005g0111 a0001c0003t0004g0070 a0001c0003t0004g0189 others(66): Show |
69 | 356 | 0.1938 | -8 | c.165 others(27): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24278873 | TTTCCTTC others(1): Show |
T | intron_variant | MODIFIER | HG01123.hp1 HG01257.hp2 HG02004.hp1 others(27): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0002g0119 a0001c0001t0002g0188 a0001c0001t0003g0297 others(27): Show |
30 | 356 | 0.0843 | -8 | c.216 others(27): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24278970 | TTCCCTCC others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00423.hp1 others(121): Show |
a0001a0002a0007others(4): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(75): Show | a0001c0001t0002g0094 a0001c0001t0002g0119 a0001c0001t0002g0162 others(121): Show |
124 | 356 | 0.3483 | -8 | c.216 others(27): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24291736 | CTTTATTT others(1): Show |
C | intron_variant | MODIFIER | HG03471.hp2 NA18522.hp2 NA19043.hp2 |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0015a0002c0007t0087a0002c0007t0118 | a0001c0001t0015g0347 a0002c0007t0087g0353 a0002c0007t0118g0283 |
3 | 356 | 0.0084 | -8 | c.308 others(25): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24295670 | ACTCTCTC others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG01074.hp2 HG01192.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0024a0001c0002t0009a0001c0002t0010others(4): Show | a0001c0001t0024g0040 a0001c0002t0009g0319 a0001c0002t0009g0336 others(5): Show |
8 | 356 | 0.0225 | -8 | c.321 others(25): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24296884 | CCCTGCCC others(1): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG02280.hp1 HG03098.hp1 others(1): Show |
a0001a0009a0017 | a0001c0006a0001c0013a0009c0045others(1): Show | a0001c0006t0088a0001c0013t0128a0009c0045t0092others(1): Show | a0001c0006t0088g0059 a0001c0013t0128g0120 a0009c0045t0092g0071 others(1): Show |
4 | 356 | 0.0112 | -8 | c.321 others(25): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24300577 | GAGAACAG others(1): Show |
G | intron_variant | MODIFIER | HG02015.hp2 HG02155.hp2 NA18945.hp1 others(3): Show |
a0001 | a0001c0002a0001c0004a0001c0006 | a0001c0002t0013a0001c0002t0054a0001c0004t0053others(1): Show | a0001c0002t0013g0150 a0001c0002t0054g0300 a0001c0004t0053g0322 others(3): Show |
6 | 356 | 0.0169 | -8 | c.365 others(25): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA16_chr3_172884357_173146235 | 172959787 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01255.hp2 others(20): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0005others(4): Show | a0001c0001t0001a0002c0002t0001a0002c0005t0001others(4): Show | a0001c0001t0001g0069 a0001c0001t0001g0084 a0001c0001t0001g0085 others(20): Show |
23 | 200 | 0.1150 | -8 | c.934 others(25): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 5/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 172961016 | TTTTCTCT others(1): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp1 HG00738.hp1 others(52): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0015others(8): Show | a0001c0001t0001a0001c0004t0001a0001c0015t0001others(8): Show | a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0025 others(52): Show |
55 | 200 | 0.2750 | -8 | c.934 others(25): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 5/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 172961063 | CTTCTTTC others(1): Show |
C | intron_variant | MODIFIER | HG02615.hp2 HG02976.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0163 a0002c0002t0001g0199 |
2 | 200 | 0.0100 | -8 | c.934 others(25): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 5/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 172999395 | ATTTCTTT others(1): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG01928.hp2 HG02280.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0015others(4): Show | a0001c0001t0001a0001c0004t0001a0001c0015t0001others(4): Show | a0001c0001t0001g0191 a0001c0004t0001g0020 a0001c0004t0001g0038 others(10): Show |
13 | 200 | 0.0650 | -8 | c.848 others(27): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 4/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173015861 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG01361.hp1 HG02145.hp1 HG02622.hp2 others(2): Show |
a0002a0004a0006others(1): Show | a0002c0002a0004c0006a0006c0020others(1): Show | a0002c0002t0001a0004c0006t0001a0006c0020t0001others(1): Show | a0002c0002t0001g0143 a0002c0002t0001g0198 a0004c0006t0001g0098 others(2): Show |
5 | 200 | 0.0250 | -8 | c.848 others(25): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 4/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173021722 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02615.hp1 HG02717.hp2 others(7): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0009 | a0001c0001t0001a0002c0002t0001a0005c0009t0002 | a0001c0001t0001g0069 a0001c0001t0001g0084 a0001c0001t0001g0194 others(7): Show |
10 | 200 | 0.0500 | -8 | c.759 others(25): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 3/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173027974 | TCTCCCTC others(1): Show |
T | intron_variant | MODIFIER | HG01261.hp1 HG02886.hp2 HG02976.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0074 a0001c0001t0001g0131 a0001c0001t0001g0132 others(1): Show |
4 | 200 | 0.0200 | -8 | c.759 others(25): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 3/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173028015 | CTTCCTTC others(1): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01891.hp2 HG02965.hp1 others(4): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0009 | a0001c0001t0001a0002c0002t0001a0005c0009t0002 | a0001c0001t0001g0034 a0002c0002t0001g0099 a0002c0002t0001g0101 others(4): Show |
7 | 200 | 0.0350 | -8 | c.759 others(25): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 3/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173030057 | ACTATCTA others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG00642.hp2 others(94): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0004a0001c0015others(13): Show | a0001c0001t0001a0001c0004t0001a0001c0015t0001others(13): Show | a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 others(94): Show |
97 | 200 | 0.4850 | -8 | c.759 others(27): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 3/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173059832 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG00741.hp1 others(34): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0002c0002others(5): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(5): Show | a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0041 others(34): Show |
37 | 200 | 0.1850 | -8 | c.613 others(27): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173088007 | CGTCTTTC others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG01891.hp1 others(7): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0078 a0001c0001t0001g0183 a0001c0004t0001g0036 others(7): Show |
10 | 200 | 0.0500 | -8 | c.612 others(27): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173088008 | GTCTTTCT others(1): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01433.hp1 HG02129.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0050 others(9): Show |
12 | 200 | 0.0600 | -8 | c.612 others(27): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173093040 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG01081.hp1 HG01167.hp1 others(27): Show |
a0001a0003a0012 | a0001c0001a0003c0003a0003c0007others(2): Show | a0001c0001t0001a0003c0003t0001a0003c0007t0001others(2): Show | a0001c0001t0001g0063 a0003c0003t0001g0009 a0003c0003t0001g0013 others(27): Show |
30 | 200 | 0.1500 | -8 | c.612 others(27): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173100660 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG03209.hp2 NA18981.hp2 others(2): Show |
a0001a0002a0004others(1): Show | a0001c0004a0002c0002a0004c0006others(1): Show | a0001c0004t0001a0002c0002t0001a0004c0006t0001others(1): Show | a0001c0004t0001g0083 a0002c0002t0001g0104 a0002c0002t0001g0143 others(2): Show |
5 | 200 | 0.0250 | -8 | c.612 others(27): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173139985 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG02965.hp1 HG03130.hp1 NA18522.hp2 |
a0005 | a0005c0009 | a0005c0009t0002 | a0005c0009t0002g0001 a0005c0009t0002g0002 a0005c0009t0002g0003 |
3 | 200 | 0.0150 | -8 | c.-19 others(25): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 1/10 | chr3 | TogoVar | |||||||
SPATA17_chr1_217626344_217876696 | 217736561 | AAGATCTT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(82): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(26): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(82): Show |
85 | 252 | 0.3373 | -8 | c.396 others(25): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217808377 | ACACACCC others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(42): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 others(42): Show |
45 | 252 | 0.1786 | -8 | c.100 others(27): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA18_chr4_52046304_52102299 | 52047775 | TTTTATTT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02622.hp1 HG02976.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0071 a0001c0001t0003g0124 a0001c0001t0004g0017 others(5): Show |
9 | 308 | 0.0292 | -8 | c.-39 others(19): Show |
SPATA18 | ENSG00000163071.11 | transcript | ENST00000295213.9 | protein_coding | 3528 | chr4 | TogoVar | |||||||
SPATA18_chr4_52046304_52102299 | 52050315 | CATATATA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(54): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0002a0007c0009others(1): Show | a0001c0001t0002a0001c0001t0003a0002c0002t0001others(3): Show | a0001c0001t0002g0032 a0001c0001t0002g0166 a0001c0001t0002g0184 others(40): Show |
57 | 308 | 0.1851 | -8 | c.-13 others(19): Show |
SPATA18 | ENSG00000163071.11 | transcript | ENST00000295213.9 | protein_coding | 988 | chr4 | TogoVar | |||||||
SPATA18_chr4_52046304_52102299 | 52077244 | TTCCCTCC others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(63): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(5): Show | a0001c0001t0001g0129 a0001c0001t0003g0002 a0001c0001t0003g0006 others(47): Show |
66 | 308 | 0.2143 | -8 | c.102 others(25): Show |
SPATA18 | ENSG00000163071.11 | transcript | ENST00000295213.9 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA1_chr1_84501386_84572379 | 84536881 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01261.hp1 HG01515.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0088 a0001c0003t0001g0089 a0001c0003t0001g0090 others(3): Show |
6 | 312 | 0.0192 | -8 | c.717 others(25): Show |
SPATA1 | ENSG00000122432.19 | transcript | ENST00000699524.1 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA1_chr1_84501386_84572379 | 84560097 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp2 HG00609.hp1 others(82): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0003t0003a0001c0003t0004others(9): Show | a0001c0001t0001g0188 a0001c0003t0003g0102 a0001c0003t0004g0002 others(65): Show |
85 | 312 | 0.2724 | -8 | c.129 others(27): Show |
SPATA1 | ENSG00000122432.19 | transcript | ENST00000699524.1 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA20_chr17_50542174_50560852 | 50554885 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02572.hp1 others(2): Show |
a0001a0006a0013 | a0001c0001a0006c0007a0013c0019 | a0001c0001t0001a0006c0007t0001a0013c0019t0001 | a0001c0001t0001g0017 a0006c0007t0001g0017 a0013c0019t0001g0053 |
5 | 334 | 0.0150 | -8 | c.215 others(25): Show |
SPATA20 | ENSG00000006282.22 | transcript | ENST00000006658.11 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPATA21_chr1_16393643_16442424 | 16436865 | CAAATAAA others(1): Show |
C | intron_variant | MODIFIER | HG01123.hp2 HG01255.hp1 HG01261.hp2 |
a0003a0009 | a0003c0003a0009c0013 | a0003c0003t0002a0009c0013t0002 | a0003c0003t0002g0335 a0009c0013t0002g0336 a0009c0013t0002g0337 |
3 | 352 | 0.0085 | -8 | c.-18 others(25): Show |
SPATA21 | ENSG00000187144.11 | transcript | ENST00000335496.5 | protein_coding | 1/12 | chr1 | TogoVar | |||||||
SPATA2L_chr16_89691357_89706705 | 89698474 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02451.hp2 HG03209.hp1 others(5): Show |
a0001a0007 | a0001c0001a0001c0003a0007c0014 | a0001c0001t0001a0001c0003t0001a0001c0003t0015others(1): Show | a0001c0001t0001g0080 a0001c0003t0001g0016 a0001c0003t0015g0089 others(1): Show |
8 | 418 | 0.0191 | -8 | c.304 others(23): Show |
SPATA2L | ENSG00000158792.16 | transcript | ENST00000289805.10 | protein_coding | 2/2 | chr16 | TogoVar | |||||||
SPATA2_chr20_49898391_49920529 | 49903898 | GATAGATA others(1): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00741.hp2 HG01255.hp1 HG02818.hp2 others(3): Show |
a0001a0009 | a0001c0001a0009c0023 | a0001c0001t0023a0001c0001t0055a0001c0001t0071others(2): Show | a0001c0001t0023g0141 a0001c0001t0023g0186 a0001c0001t0055g0138 others(3): Show |
6 | 426 | 0.0141 | -8 | c.*17 others(19): Show |
SPATA2 | ENSG00000158480.11 | transcript | ENST00000289431.10 | protein_coding | 3/3 | 1713 | chr20 | TogoVar | ||||||
SPATA2_chr20_49898391_49920529 | 49903902 | GATATATA others(1): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG01074.hp1 HG01099.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0060 | a0001c0001t0024g0022 a0001c0001t0060g0161 |
4 | 426 | 0.0094 | -8 | c.*17 others(19): Show |
SPATA2 | ENSG00000158480.11 | transcript | ENST00000289431.10 | protein_coding | 3/3 | 1709 | chr20 | TogoVar | ||||||
SPATA31A6_chr9_42178659_42194887 | 42184439 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00735.hp1 NA19030.hp2 |
a0002a0033 | a0002c0034a0033c0019 | a0002c0034t0002a0033c0019t0006 | a0002c0034t0002g0055 a0033c0019t0006g0032 |
2 | 182 | 0.0110 | -8 | c.190 others(23): Show |
SPATA31A6 | ENSG00000185775.10 | transcript | ENST00000332857.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPATA31D1_chr9_81983772_82000253 | 81989684 | TAATGAAT others(1): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG02970.hp2 HG03516.hp1 others(1): Show |
a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0006 | 4 | 382 | 0.0105 | -8 | c.187 others(21): Show |
SPATA31D1 | ENSG00000214929.4 | transcript | ENST00000344803.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |