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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SORCS3_chr10_104636290_105270242 | 104696298 | A | ATAATATA others(10): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0071 | 1 | 132 | 0.0076 | 17 | c.627 others(36): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 1/26 | chr10 | TogoVar | |||||||
SORCS3_chr10_104636290_105270242 | 104735456 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01358.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0002t0003 | a0001c0001t0002g0018 a0001c0001t0002g0099 a0001c0001t0004g0112 others(1): Show |
4 | 16 | 0.2500 | 17 | c.627 others(36): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 104876703 | T | TCTTCCTT others(10): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0074 | 1 | 34 | 0.0294 | 17 | c.695 others(36): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 2/26 | chr10 | TogoVar | |||||||
SORCS3_chr10_104636290_105270242 | 104940239 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0121 | 1 | 129 | 0.0078 | 17 | c.795 others(36): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 3/26 | chr10 | TogoVar | |||||||
SORCS3_chr10_104636290_105270242 | 105003998 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02280.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0003 | a0001c0001t0004g0125 a0001c0002t0003g0128 |
2 | 58 | 0.0345 | 17 | c.954 others(36): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 105125709 | A | ACACACAC others(10): Show |
intron_variant | MODIFIER | HG01099.hp2 HG03927.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0086 a0001c0002t0001g0105 |
2 | 134 | 0.0149 | 17 | c.121 others(38): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 7/26 | chr10 | TogoVar | |||||||
SORL1_chr11_121447314_121638763 | 121540522 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02040.hp1 HG03540.hp2 others(8): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0046others(1): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0006others(4): Show | a0001c0002t0001g0103 a0001c0002t0004g0003 a0001c0002t0004g0078 others(8): Show |
11 | 36 | 0.3056 | 17 | c.168 others(36): Show |
SORL1 | ENSG00000137642.13 | transcript | ENST00000260197.12 | protein_coding | 12/47 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SOS1_chr2_38976549_39126051 | 39075588 | G | GAGTCTAG others(10): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00597.hp2 others(126): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 others(126): Show |
129 | 244 | 0.5287 | 17 | c.88- others(32): Show |
SOS1 | ENSG00000115904.15 | transcript | ENST00000402219.8 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
SOS2_chr14_50112130_50236578 | 50122391 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0362 | 1 | 36 | 0.0278 | 17 | c.338 others(36): Show |
SOS2 | ENSG00000100485.12 | transcript | ENST00000216373.10 | protein_coding | 21/22 | chr14 | TogoVar | |||||||
SOS2_chr14_50112130_50236578 | 50220405 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02257.hp2 NA18943.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0079 others(2): Show |
5 | 44 | 0.1136 | 17 | c.87+ others(34): Show |
SOS2 | ENSG00000100485.12 | transcript | ENST00000216373.10 | protein_coding | 1/22 | chr14 | TogoVar | |||||||
SOS2_chr14_50112130_50236578 | 50234255 | T | TAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0138 | 1 | 46 | 0.0217 | 17 | c.-29 others(28): Show |
SOS2 | ENSG00000100485.12 | transcript | ENST00000216373.10 | protein_coding | 2678 | chr14 | TogoVar | |||||||
SOX11_chr2_5687384_5706385 | 5688867 | T | TGTGTGTG others(10): Show |
upstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0000 | 1 | 428 | 0.0023 | 17 | c.-38 others(28): Show |
SOX11 | ENSG00000176887.7 | transcript | ENST00000322002.5 | protein_coding | 3516 | chr2 | TogoVar | |||||||
SOX13_chr1_204068115_204132743 | 204105413 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0188 | 1 | 138 | 0.0072 | 17 | c.-1- others(32): Show |
SOX13 | ENSG00000143842.15 | transcript | ENST00000367204.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SOX30_chr5_157620679_157657438 | 157632047 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02135.hp1 HG02257.hp1 NA18956.hp1 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0013 a0001c0002t0001g0062 a0001c0002t0001g0063 others(9): Show |
14 | 134 | 0.1045 | 17 | c.188 others(36): Show |
SOX30 | ENSG00000039600.11 | transcript | ENST00000265007.11 | protein_coding | 4/4 | chr5 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23578117 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01934.hp1 HG02738.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0074a0001c0001t0075others(1): Show | a0001c0001t0021g0129 a0001c0001t0021g0139 a0001c0001t0074g0175 others(2): Show |
5 | 16 | 0.3125 | 17 | c.116 others(36): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 9/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23872164 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01928.hp2 HG02165.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0041a0001c0001t0097others(1): Show | a0001c0001t0008g0037 a0001c0001t0008g0076 a0001c0001t0041g0010 others(2): Show |
5 | 90 | 0.0556 | 17 | c.270 others(36): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 2/14 | chr12 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16349715 | A | AGGAAGGA others(10): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0141 | 1 | 118 | 0.0085 | 17 | c.-5+ others(32): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 1/15 | chr11 | TogoVar | |||||||
SP110_chr2_230160186_230224984 | 230206595 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | NA18998.hp1 NA19001.hp2 NA19060.hp2 |
a0001a0004a0021 | a0001c0001a0004c0004a0021c0022 | a0001c0001t0001a0004c0004t0004a0021c0022t0001 | a0001c0001t0001g0230 a0004c0004t0004g0055 a0021c0022t0001g0147 |
3 | 38 | 0.0789 | 17 | c.898 others(34): Show |
SP110 | ENSG00000135899.20 | transcript | ENST00000258381.11 | protein_coding | 8/18 | chr2 | TogoVar | |||||||
SP140L_chr2_230322193_230408732 | 230354881 | G | GAAAGAAA others(10): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02074.hp1 HG02109.hp2 others(8): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0004t0006a0002c0002t0001others(2): Show | a0001c0001t0001g0077 a0001c0001t0001g0148 a0001c0001t0001g0149 others(8): Show |
11 | 280 | 0.0393 | 17 | c.108 others(34): Show |
SP140L | ENSG00000185404.17 | transcript | ENST00000415673.7 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP140L_chr2_230322193_230408732 | 230354885 | G | GAAAGAAA others(10): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 330 | 0.0030 | 17 | c.108 others(34): Show |
SP140L | ENSG00000185404.17 | transcript | ENST00000415673.7 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP140L_chr2_230322193_230408732 | 230357994 | G | GTAAAGCA others(10): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0012 | a0012c0016 | a0012c0016t0001 | a0012c0016t0001g0127 | 1 | 334 | 0.0030 | 17 | c.270 others(30): Show |
SP140L | ENSG00000185404.17 | transcript | ENST00000415673.7 | protein_coding | 3/18 | chr2 | TogoVar | |||||||
SP3_chr2_173895775_173970373 | 173939764 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0117 | 1 | 18 | 0.0556 | 17 | c.163 others(38): Show |
SP3 | ENSG00000172845.18 | transcript | ENST00000310015.12 | protein_coding | 4/6 | chr2 | TogoVar | |||||||
SPACA7_chr13_112371355_112439689 | 112416289 | T | TTGTTGTT others(10): Show |
intron_variant | MODIFIER | NA18940.hp1 NA18962.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 a0001c0001t0002g0031 |
2 | 179 | 0.0112 | 17 | c.445 others(36): Show |
SPACA7 | ENSG00000153498.12 | transcript | ENST00000283550.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPAG11A_chr8_7843008_7865943 | 7863213 | A | ATTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG06807.hp2 NA18948.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0015 a0001c0001t0001g0038 a0001c0001t0001g0086 others(2): Show |
5 | 8 | 0.6250 | 17 | c.*23 others(28): Show |
SPAG11A | ENSG00000178287.18 | transcript | ENST00000642566.2 | protein_coding | 2271 | chr8 | TogoVar | |||||||
SPAG11B_chr8_7445603_7468542 | 7448302 | C | CAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 6 | 0.1667 | 17 | c.*23 others(28): Show |
SPAG11B | ENSG00000164871.18 | transcript | ENST00000398462.7 | protein_coding | 2300 | chr8 | TogoVar | |||||||
SPAG16_chr2_213279464_214415501 | 213292663 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 65 | 0.0154 | 17 | c.137 others(34): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213642820 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03195.hp1 NA19087.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0025 a0001c0001t0001g0041 a0003c0003t0001g0043 |
3 | 56 | 0.0536 | 17 | c.107 others(40): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214012288 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0067 | 1 | 34 | 0.0294 | 17 | c.140 others(36): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG17_chr1_117948590_118190228 | 117969505 | G | GGAGGCAG others(10): Show |
intron_variant | MODIFIER | NA18906.hp2 NA19043.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0204 a0001c0004t0001g0218 |
2 | 264 | 0.0076 | 17 | c.638 others(34): Show |
SPAG17 | ENSG00000155761.14 | transcript | ENST00000336338.10 | protein_coding | 46/48 | chr1 | TogoVar | |||||||
SPAG17_chr1_117948590_118190228 | 118069344 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00733.hp2 others(43): Show |
a0001a0003a0004others(5): Show | a0001c0004a0003c0003a0003c0029others(6): Show | a0001c0004t0003a0003c0003t0001a0003c0003t0003others(7): Show | a0001c0004t0003g0082 a0003c0003t0001g0064 a0003c0003t0001g0086 others(43): Show |
46 | 149 | 0.3087 | 17 | c.238 others(36): Show |
SPAG17 | ENSG00000155761.14 | transcript | ENST00000336338.10 | protein_coding | 17/48 | chr1 | TogoVar | |||||||
SPAG1_chr8_100153587_100246904 | 100168687 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01243.hp2 HG01891.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0003 | a0001c0002t0001g0185 a0001c0003t0003g0101 a0001c0003t0003g0102 others(2): Show |
5 | 116 | 0.0431 | 17 | c.300 others(34): Show |
SPAG1 | ENSG00000104450.13 | transcript | ENST00000388798.7 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPAG4_chr20_35610829_35626094 | 35615424 | A | AAAAAGAA others(10): Show |
upstream_gene_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 115 | 0.0087 | 17 | c.-58 others(26): Show |
SPAG4 | ENSG00000061656.11 | transcript | ENST00000374273.8 | protein_coding | 404 | chr20 | TogoVar | |||||||
SPAG4_chr20_35610829_35626094 | 35615424 | A | AGAAAGAA others(10): Show |
upstream_gene_variant | MODIFIER | HG02004.hp2 NA18906.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0001 a0001c0003t0002g0020 |
2 | 116 | 0.0172 | 17 | c.-58 others(26): Show |
SPAG4 | ENSG00000061656.11 | transcript | ENST00000374273.8 | protein_coding | 404 | chr20 | TogoVar | |||||||
SPAG6_chr10_22340496_22422610 | 22411840 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0076 | 1 | 32 | 0.0313 | 17 | c.146 others(34): Show |
SPAG6 | ENSG00000077327.16 | transcript | ENST00000376624.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SPAG9_chr17_50957174_51125868 | 51037685 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03195.hp1 |
a0002 | a0002c0003 | a0002c0003t0008 | a0002c0003t0008g0173 a0002c0003t0008g0287 |
2 | 154 | 0.0130 | 17 | c.741 others(34): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 5/29 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51104932 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00621.hp1 HG00639.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(3): Show | a0001c0001t0001g0215 a0001c0001t0001g0224 a0001c0001t0001g0226 others(16): Show |
19 | 217 | 0.0876 | 17 | c.303 others(36): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 1/29 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51104932 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 199 | 0.0050 | 17 | c.303 others(36): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 1/29 | chr17 | TogoVar | |||||||
SPAST_chr2_32058556_32162637 | 32081781 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 124 | 0.0081 | 17 | c.416 others(34): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAST_chr2_32058556_32162637 | 32083766 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 286 | 0.0035 | 17 | c.416 others(34): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAST_chr2_32058556_32162637 | 32083770 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00735.hp1 NA18979.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 a0001c0001t0001g0159 |
2 | 253 | 0.0079 | 17 | c.416 others(34): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAST_chr2_32058556_32162637 | 32083772 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02129.hp1 NA18951.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 a0001c0001t0001g0148 |
2 | 233 | 0.0086 | 17 | c.416 others(34): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAST_chr2_32058556_32162637 | 32083774 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 195 | 0.0051 | 17 | c.416 others(34): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24190376 | A | ATTATTAT others(10): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0085 | 1 | 128 | 0.0078 | 17 | c.-11 others(38): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | chr13 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173056705 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0158 | 1 | 72 | 0.0139 | 17 | c.613 others(34): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SPATA17_chr1_217626344_217876696 | 217703174 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0226 | 1 | 188 | 0.0053 | 17 | c.395 others(36): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217712128 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0002 | a0001c0002t0044 | a0001c0002t0044g0091 | 1 | 151 | 0.0066 | 17 | c.395 others(36): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217714488 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01361.hp1 HG02165.hp1 others(6): Show |
a0001 | a0001c0003a0001c0008 | a0001c0003t0001a0001c0003t0003a0001c0003t0031others(1): Show | a0001c0003t0001g0220 a0001c0003t0003g0098 a0001c0003t0003g0214 others(6): Show |
9 | 193 | 0.0466 | 17 | c.396 others(36): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217786750 | T | TTCTTCTT others(10): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0113 | 1 | 36 | 0.0278 | 17 | c.872 others(34): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA18_chr4_52046304_52102299 | 52058298 | T | TTTTGGGA others(10): Show |
intron_variant | MODIFIER | NA20752.hp1 NA20805.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0041 a0002c0002t0001g0042 |
2 | 306 | 0.0065 | 17 | c.88- others(32): Show |
SPATA18 | ENSG00000163071.11 | transcript | ENST00000295213.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA21_chr1_16393643_16442424 | 16442161 | A | AGAGATGA others(10): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 HG01106.hp1 HG01884.hp1 others(14): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(3): Show | a0001c0001t0001g0007 a0001c0001t0001g0152 a0001c0001t0001g0158 others(12): Show |
17 | 350 | 0.0486 | 17 | c.-52 others(28): Show |
SPATA21 | ENSG00000187144.11 | transcript | ENST00000335496.5 | protein_coding | 4738 | chr1 | TogoVar |