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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPATA17_chr1_217626344_217876696 | 217732084 | T | TTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG02165.hp1 NA18990.hp1 NA19066.hp1 |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0031 | a0001c0003t0003g0223 a0001c0003t0003g0226 a0001c0003t0031g0225 |
3 | 252 | 0.0119 | 20 | c.396 others(37): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217749979 | C | CTATATAT others(13): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 252 | 0.0040 | 20 | c.519 others(37): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217749983 | C | CTATATAT others(13): Show |
intron_variant | MODIFIER | HG02486.hp2 NA18969.hp1 NA19085.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0015a0001c0003t0003 | a0001c0001t0002g0013 a0001c0001t0015g0059 a0001c0003t0003g0210 |
3 | 252 | 0.0119 | 20 | c.519 others(37): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217749985 | C | CTATATAT others(13): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02735.hp2 NA18960.hp1 |
a0001 | a0001c0001a0001c0003a0001c0009 | a0001c0001t0006a0001c0003t0001a0001c0009t0001 | a0001c0001t0006g0096 a0001c0003t0001g0220 a0001c0009t0001g0178 |
3 | 252 | 0.0119 | 20 | c.519 others(37): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217749985 | C | CTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG02148.hp1 NA18968.hp1 NA19063.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0177 a0001c0003t0003g0212 a0001c0003t0003g0228 |
3 | 252 | 0.0119 | 20 | c.519 others(37): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217749985 | C | CTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG00323.hp1 HG03098.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0039 | a0001c0001t0002g0020 a0001c0002t0039g0057 |
2 | 252 | 0.0079 | 20 | c.519 others(37): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217749985 | C | CTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 252 | 0.0040 | 20 | c.519 others(37): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217749985 | C | CTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0142 | 1 | 252 | 0.0040 | 20 | c.519 others(37): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217770978 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG01069.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(6): Show | a0001c0001t0001g0016 a0001c0001t0001g0046 a0001c0001t0001g0154 others(10): Show |
13 | 252 | 0.0516 | 20 | c.520 others(37): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA21_chr1_16393643_16442424 | 16426254 | C | CTTATTTA others(13): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02258.hp1 HG02615.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0043 a0001c0001t0002g0265 a0001c0001t0002g0266 |
3 | 352 | 0.0085 | 20 | c.35- others(35): Show |
SPATA21 | ENSG00000187144.11 | transcript | ENST00000335496.5 | protein_coding | 3/12 | chr1 | TogoVar | |||||||
SPATA21_chr1_16393643_16442424 | 16426557 | C | CTATATAT others(13): Show |
intron_variant | MODIFIER | HG03098.hp1 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 a0001c0001t0001g0059 |
2 | 352 | 0.0057 | 20 | c.35- others(35): Show |
SPATA21 | ENSG00000187144.11 | transcript | ENST00000335496.5 | protein_coding | 3/12 | chr1 | TogoVar | |||||||
SPATA21_chr1_16393643_16442424 | 16426579 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 352 | 0.0028 | 20 | c.35- others(35): Show |
SPATA21 | ENSG00000187144.11 | transcript | ENST00000335496.5 | protein_coding | 3/12 | chr1 | TogoVar | |||||||
SPATA22_chr17_3435019_3476819 | 3435327 | C | CTTTTTTT others(13): Show |
downstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 420 | 0.0024 | 20 | c.*48 others(31): Show |
SPATA22 | ENSG00000141255.13 | transcript | ENST00000572969.6 | protein_coding | 4691 | chr17 | TogoVar | |||||||
SPATA22_chr17_3435019_3476819 | 3458855 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02273.hp2 NA19090.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 a0001c0001t0001g0072 a0001c0001t0001g0134 |
4 | 420 | 0.0095 | 20 | c.329 others(37): Show |
SPATA22 | ENSG00000141255.13 | transcript | ENST00000572969.6 | protein_coding | 5/8 | chr17 | TogoVar | |||||||
SPATA24_chr5_139391767_139409089 | 139399417 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 336 | 0.0030 | 20 | c.386 others(37): Show |
SPATA24 | ENSG00000170469.11 | transcript | ENST00000450845.7 | protein_coding | 4/5 | chr5 | TogoVar | |||||||
SPATA2_chr20_49898391_49920529 | 49903902 | G | GATATATA others(13): Show |
3_prime_UTR_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0091 | 1 | 426 | 0.0024 | 20 | c.*17 others(31): Show |
SPATA2 | ENSG00000158480.11 | transcript | ENST00000289431.10 | protein_coding | 3/3 | 1716 | chr20 | TogoVar | ||||||
SPATA31A6_chr9_42178659_42194887 | 42184503 | G | GTTATTTT others(13): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0065 | 1 | 182 | 0.0055 | 20 | c.190 others(35): Show |
SPATA31A6 | ENSG00000185775.10 | transcript | ENST00000332857.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPATA31C2_chr9_88124305_88143475 | 88140879 | G | GAGGCTGA others(13): Show |
upstream_gene_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 446 | 0.0022 | 20 | c.-24 others(31): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 2405 | chr9 | TogoVar | |||||||
SPATA31D4_chr9_81923428_81939998 | 81930201 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01993.hp1 HG02559.hp1 HG03453.hp2 others(10): Show |
a0001a0004a0006others(2): Show | a0001c0001a0004c0004a0006c0006others(2): Show | a0001c0001t0001a0004c0004t0001a0006c0006t0007others(3): Show | a0001c0001t0001g0013 a0001c0001t0001g0066 a0001c0001t0001g0094 others(6): Show |
13 | 360 | 0.0361 | 20 | c.293 others(33): Show |
SPATA31D4 | ENSG00000189357.9 | transcript | ENST00000419782.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPATA31F3_chr9_34884066_34900764 | 34886746 | A | ATCTGTCT others(13): Show |
downstream_gene_variant | MODIFIER | NA18984.hp1 NA19080.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002 | 2 | 434 | 0.0046 | 20 | c.*26 others(31): Show |
SPATA31F3 | ENSG00000187791.13 | transcript | ENST00000340783.11 | protein_coding | 2319 | chr9 | TogoVar | |||||||
SPATA31F3_chr9_34884066_34900764 | 34886834 | G | GTATCTAT others(13): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 HG02080.hp1 HG02129.hp2 others(19): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0002c0002t0001a0004c0004t0001 | a0001c0001t0001g0003 a0002c0002t0001g0001 a0002c0002t0001g0009 others(2): Show |
22 | 434 | 0.0507 | 20 | c.*25 others(31): Show |
SPATA31F3 | ENSG00000187791.13 | transcript | ENST00000340783.11 | protein_coding | 2231 | chr9 | TogoVar | |||||||
SPATA45_chr1_212825141_212852649 | 212826759 | C | CAAAAAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 HG01952.hp2 HG02027.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0132 a0001c0001t0001g0143 |
4 | 402 | 0.0100 | 20 | c.*34 others(31): Show |
SPATA45 | ENSG00000185523.6 | transcript | ENST00000332912.3 | protein_coding | 3381 | chr1 | TogoVar | |||||||
SPATA48_chr7_50090883_50164256 | 50100812 | A | AAAATAAA others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(83): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(7): Show | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0108 others(78): Show |
86 | 328 | 0.2622 | 20 | c.554 others(37): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 122992978 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG01175.hp1 others(17): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(10): Show | a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0103 others(17): Show |
20 | 262 | 0.0763 | 20 | c.186 others(41): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123299117 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0043a0001c0001t0051 | a0001c0001t0043g0172 a0001c0001t0051g0174 |
2 | 262 | 0.0076 | 20 | c.250 others(41): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA6L_chr9_4593316_4671480 | 4600483 | C | CAGAGAGA others(13): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(67): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0008a0002c0002others(4): Show | a0001c0001t0002a0001c0001t0017a0001c0001t0030others(9): Show | a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0006 others(66): Show |
70 | 408 | 0.1716 | 20 | c.*32 others(29): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 12/12 | 3696 | chr9 | TogoVar | ||||||
SPATA6L_chr9_4593316_4671480 | 4629769 | G | GTGTATAT others(13): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02615.hp1 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0023 | a0001c0001t0012g0079 a0001c0001t0012g0120 a0001c0001t0023g0176 |
3 | 408 | 0.0074 | 20 | c.352 others(35): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 4/11 | chr9 | TogoVar | |||||||
SPATA6L_chr9_4593316_4671480 | 4629769 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG01243.hp1 others(27): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0341 a0001c0001t0003g0306 a0001c0001t0004g0116 others(27): Show |
30 | 408 | 0.0735 | 20 | c.352 others(35): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 4/11 | chr9 | TogoVar | |||||||
SPATA6L_chr9_4593316_4671480 | 4629769 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0393 | 1 | 408 | 0.0025 | 20 | c.352 others(35): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 4/11 | chr9 | TogoVar | |||||||
SPATA6L_chr9_4593316_4671480 | 4629769 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0014 | a0014c0013 | a0014c0013t0005 | a0014c0013t0005g0157 | 1 | 408 | 0.0025 | 20 | c.352 others(35): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 4/11 | chr9 | TogoVar | |||||||
SPATA6L_chr9_4593316_4671480 | 4666552 | A | ACGGTGCG others(13): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(237): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0004a0001c0006others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(70): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0012 others(234): Show |
240 | 408 | 0.5882 | 20 | c.-30 others(29): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 73 | chr9 | TogoVar | |||||||
SPATA6_chr1_48290373_48477204 | 48297125 | G | GGTGTGTG others(13): Show |
3_prime_UTR_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0311 | 1 | 322 | 0.0031 | 20 | c.*15 others(31): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 13/13 | 1587 | chr1 | TogoVar | ||||||
SPATA6_chr1_48290373_48477204 | 48428839 | G | GTGTATAT others(13): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0308 | 1 | 322 | 0.0031 | 20 | c.239 others(39): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 3/12 | chr1 | TogoVar | |||||||
SPATA7_chr14_88380657_88443460 | 88429890 | C | CTATTTAT others(13): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 364 | 0.0028 | 20 | c.102 others(37): Show |
SPATA7 | ENSG00000042317.17 | transcript | ENST00000393545.9 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SPATS1_chr6_44337650_44385179 | 44369880 | C | CATAAAAT others(13): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01069.hp1 HG01255.hp2 others(27): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0006 | a0001c0001t0004a0001c0001t0009a0001c0001t0011others(6): Show | a0001c0001t0004g0020 a0001c0001t0004g0022 a0001c0001t0004g0061 others(25): Show |
30 | 392 | 0.0765 | 20 | c.696 others(35): Show |
SPATS1 | ENSG00000249481.7 | transcript | ENST00000674044.1 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200305826 | C | CTAAATAA others(13): Show |
upstream_gene_variant | MODIFIER | HG01074.hp1 HG01074.hp2 HG02723.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0008a0001c0001t0014a0001c0001t0073others(1): Show | a0001c0001t0008g0088 a0001c0001t0014g0050 a0001c0001t0073g0090 others(1): Show |
4 | 300 | 0.0133 | 20 | c.-11 others(31): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 866 | chr2 | TogoVar | |||||||
SPATS2L_chr2_200301693_200487264 | 200396033 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0149 | 1 | 300 | 0.0033 | 20 | c.39+ others(35): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200396033 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0003 | a0001c0003t0024 | a0001c0003t0024g0242 | 1 | 300 | 0.0033 | 20 | c.39+ others(35): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200396033 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0209 | 1 | 300 | 0.0033 | 20 | c.39+ others(35): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200468347 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01175.hp2 HG02004.hp2 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(6): Show | a0001c0001t0002g0241 a0001c0001t0004g0038 a0001c0001t0008g0013 others(10): Show |
13 | 300 | 0.0433 | 20 | c.957 others(35): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200477515 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02818.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0017a0002c0004t0012 | a0001c0001t0017g0087 a0002c0004t0012g0020 |
2 | 300 | 0.0067 | 20 | c.128 others(36): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49498145 | A | AAAATATA others(13): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061 | 1 | 158 | 0.0063 | 20 | c.703 others(37): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPC24_chr19_11140493_11160782 | 11146465 | T | TAAAAAAA others(13): Show |
3_prime_UTR_variant | MODIFIER | HG02055.hp1 HG02055.hp2 |
a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0030 | 2 | 438 | 0.0046 | 20 | c.*71 others(29): Show |
SPC24 | ENSG00000161888.12 | transcript | ENST00000592540.6 | protein_coding | 5/5 | 717 | chr19 | TogoVar | ||||||
SPCS2_chr11_74944266_74984033 | 74955851 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00609.hp2 HG02155.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0011 a0001c0001t0001g0103 a0001c0001t0001g0104 others(7): Show |
11 | 378 | 0.0291 | 20 | c.114 others(37): Show |
SPCS2 | ENSG00000118363.13 | transcript | ENST00000263672.11 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPDL1_chr5_169578773_169609778 | 169605573 | T | TGATAGAT others(13): Show |
downstream_gene_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 398 | 0.0025 | 20 | c.*13 others(31): Show |
SPDL1 | ENSG00000040275.17 | transcript | ENST00000265295.9 | protein_coding | 796 | chr5 | TogoVar | |||||||
SPDYE10_chr7_73099008_73160431 | 73111754 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01175.hp1 HG01256.hp1 others(20): Show |
a0001a0002 | a0001c0002a0001c0006a0002c0004 | a0001c0002t0001a0001c0006t0005a0001c0006t0013others(2): Show | a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0059 others(20): Show |
23 | 216 | 0.1065 | 20 | c.130 others(35): Show |
SPDYE10 | ENSG00000274570.6 | transcript | ENST00000691996.1 | protein_coding | 3/8 | chr7 | TogoVar | |||||||
SPDYE10_chr7_73099008_73160431 | 73123788 | C | CCTCTCTC others(13): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0005 | 1 | 216 | 0.0046 | 20 | c.-63 others(39): Show |
SPDYE10 | ENSG00000274570.6 | transcript | ENST00000691996.1 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
SPDYE10_chr7_73099008_73160431 | 73123788 | C | CCTCTCTC others(13): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0097 | 1 | 216 | 0.0046 | 20 | c.-63 others(39): Show |
SPDYE10 | ENSG00000274570.6 | transcript | ENST00000691996.1 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
SPDYE10_chr7_73099008_73160431 | 73124921 | C | CTAAATAA others(13): Show |
intron_variant | MODIFIER | HG02698.hp2 HG03669.hp2 HG04204.hp1 others(2): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0006a0001c0006t0014a0001c0006t0025 | a0001c0001t0006g0173 a0001c0001t0006g0174 a0001c0006t0014g0214 others(2): Show |
5 | 216 | 0.0232 | 20 | c.-63 others(39): Show |
SPDYE10 | ENSG00000274570.6 | transcript | ENST00000691996.1 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
SPDYE10_chr7_73099008_73160431 | 73142980 | G | GAGGAAGG others(13): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0008 | 1 | 216 | 0.0046 | 20 | c.-64 others(41): Show |
SPDYE10 | ENSG00000274570.6 | transcript | ENST00000691996.1 | protein_coding | 1/8 | chr7 | TogoVar |