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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SORCS2_chr4_7187538_7747827 | 7257124 | GTGAATCT others(10): Show |
G | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0011 | 1 | 168 | 0.0060 | -17 | c.480 others(36): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 1/26 | chr4 | TogoVar | |||||||
SORCS3_chr10_104636290_105270242 | 104684779 | GTTTTTTT others(10): Show |
G | intron_variant | MODIFIER | HG01346.hp2 HG01517.hp1 HG01884.hp1 others(10): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0037 others(10): Show |
13 | 33 | 0.3939 | -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 | 104741700 | GTTTTTTT others(10): Show |
G | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0118 | 1 | 7 | 0.1429 | -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 | 104905345 | CTGTGTTG others(10): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00642.hp2 others(65): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0040 others(65): Show |
68 | 134 | 0.5075 | -17 | c.696 others(36): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 104940226 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG01169.hp1 HG01358.hp2 HG02738.hp1 others(2): Show |
a0001a0012 | a0001c0001a0012c0012 | a0001c0001t0001a0001c0001t0002a0012c0012t0001 | a0001c0001t0001g0113 a0001c0001t0002g0017 a0001c0001t0002g0018 others(2): Show |
5 | 127 | 0.0394 | -17 | c.795 others(36): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 104940228 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG01123.hp1 HG01243.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0049 a0001c0001t0001g0098 a0001c0001t0001g0106 others(4): Show |
7 | 127 | 0.0551 | -17 | c.795 others(36): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 104940230 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0107 | 1 | 126 | 0.0079 | -17 | c.795 others(36): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 105242759 | TTTTATAT others(10): Show |
T | intron_variant | MODIFIER | HG03139.hp2 HG03225.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0072 a0001c0002t0001g0051 |
2 | 134 | 0.0149 | -17 | c.286 others(36): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORT1_chr1_109304575_109402918 | 109378745 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 238 | 0.0042 | -17 | c.307 others(34): Show |
SORT1 | ENSG00000134243.12 | transcript | ENST00000256637.8 | protein_coding | 1/19 | chr1 | TogoVar | |||||||
SOS2_chr14_50112130_50236578 | 50192143 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG01175.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0353 a0001c0005t0001g0354 a0001c0005t0001g0355 |
3 | 25 | 0.1200 | -17 | c.511 others(34): Show |
SOS2 | ENSG00000100485.12 | transcript | ENST00000216373.10 | protein_coding | 4/22 | chr14 | TogoVar | |||||||
SOSTDC1_chr7_16456481_16470738 | 16470075 | TATATATA others(10): Show |
T | upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 420 | 0.0024 | -17 | c.-44 others(28): Show |
SOSTDC1 | ENSG00000171243.8 | transcript | ENST00000307068.5 | protein_coding | 4338 | chr7 | TogoVar | |||||||
SOX11_chr2_5687384_5706385 | 5706368 | ACTGGGGT others(10): Show |
A | downstream_gene_variant | MODIFIER | HG01261.hp2 HG02132.hp1 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0051a0001c0001t0148a0001c0001t0165 | a0001c0001t0051g0000 a0001c0001t0148g0000 a0001c0001t0165g0000 |
3 | 304 | 0.0099 | -17 | c.*12 others(30): Show |
SOX11 | ENSG00000176887.7 | transcript | ENST00000322002.5 | protein_coding | 4984 | chr2 | TogoVar | |||||||
SOX13_chr1_204068115_204132743 | 204076491 | AAGTGTCA others(10): Show |
A | intron_variant | MODIFIER | HG02622.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0267 a0001c0001t0003g0268 |
2 | 362 | 0.0055 | -17 | c.-2+ others(32): Show |
SOX13 | ENSG00000143842.15 | transcript | ENST00000367204.6 | protein_coding | 1/13 | chr1 | TogoVar | |||||||
SOX13_chr1_204068115_204132743 | 204115657 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 154 | 0.0065 | -17 | c.419 others(32): Show |
SOX13 | ENSG00000143842.15 | transcript | ENST00000367204.6 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SOX3_chrX_140497985_140510069 | 140502233 | AAGTGGGG others(10): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(311): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 others(10): Show |
314 | 337 | 0.9318 | -17 | c.*14 others(28): Show |
SOX3 | ENSG00000134595.9 | transcript | ENST00000370536.5 | protein_coding | 751 | chrX | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23570923 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0120 | 1 | 200 | 0.0050 | -17 | c.134 others(36): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 10/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23570925 | AAAAAAAT others(10): Show |
A | intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0180 | 1 | 193 | 0.0052 | -17 | c.134 others(36): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 10/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23570927 | AAAAATAT others(10): Show |
A | intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0071 | 1 | 202 | 0.0050 | -17 | c.134 others(36): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 10/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23570931 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0039 | a0001c0001t0008g0035 a0001c0001t0039g0004 |
2 | 147 | 0.0136 | -17 | c.134 others(36): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 10/14 | chr12 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16063495 | TTTATATA others(10): Show |
T | intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 215 | 0.0047 | -17 | c.110 others(36): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 9/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16126473 | CCCTGCTC others(10): Show |
C | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0002 | a0001c0002t0043 | a0001c0002t0043g0216 | 1 | 216 | 0.0046 | -17 | c.778 others(36): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 6/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16132394 | GAAAGAAA others(10): Show |
G | intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0052 | 1 | 204 | 0.0049 | -17 | c.778 others(36): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 6/15 | chr11 | TogoVar | |||||||
SOX7_chr8_10718768_10735511 | 10734485 | GCGGCTAC others(10): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(121): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0017others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(21): Show | a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0022 others(35): Show |
124 | 460 | 0.2696 | -17 | c.-40 others(28): Show |
SOX7 | ENSG00000171056.8 | transcript | ENST00000304501.2 | protein_coding | 3975 | chr8 | TogoVar | |||||||
SP100_chr2_230411201_230550606 | 230510473 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01192.hp1 HG01361.hp1 others(20): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0003a0001c0007others(3): Show | a0001c0001t0002a0001c0001t0005a0001c0003t0005others(7): Show | a0001c0001t0002g0102 a0001c0001t0002g0175 a0001c0001t0002g0274 others(20): Show |
23 | 24 | 0.9583 | -17 | c.205 others(34): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP100_chr2_230411201_230550606 | 230535906 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | NA18970.hp1 NA18970.hp2 |
a0002a0010 | a0002c0005a0010c0012 | a0002c0005t0001a0010c0012t0009 | a0002c0005t0001g0164 a0010c0012t0009g0087 |
2 | 71 | 0.0282 | -17 | c.209 others(36): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 24/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP4_chr7_21423083_21519822 | 21424056 | TCGGCTCA others(10): Show |
T | upstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 424 | 0.0024 | -17 | c.-41 others(28): Show |
SP4 | ENSG00000105866.15 | transcript | ENST00000222584.8 | protein_coding | 4026 | chr7 | TogoVar | |||||||
SP5_chr2_170710337_170723078 | 170715466 | CGGCGGCG others(10): Show |
C | 5_prime_UTR_variant | MODIFIER | HG02647.hp2 HG02809.hp2 HG02896.hp2 others(3): Show |
a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0001 | 6 | 450 | 0.0133 | -17 | c.-46 others(24): Show |
SP5 | ENSG00000204335.4 | transcript | ENST00000375281.4 | protein_coding | 1/2 | 30 | chr2 | TogoVar | ||||||
SP8_chr7_20777279_20791886 | 20790841 | CAAAAAAA others(10): Show |
C | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01255.hp2 HG01361.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0001 a0001c0001t0008g0010 |
11 | 196 | 0.0561 | -17 | c.-40 others(28): Show |
SP8 | ENSG00000164651.18 | transcript | ENST00000418710.3 | protein_coding | 3956 | chr7 | TogoVar | |||||||
SPACA4_chr19_48601742_48612714 | 48602705 | ATATATAT others(10): Show |
A | upstream_gene_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 266 | 0.0075 | -17 | c.-42 others(28): Show |
SPACA4 | ENSG00000177202.3 | transcript | ENST00000321762.3 | protein_coding | 4036 | chr19 | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48135306 | CTTTCTTT others(10): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 312 | 0.0032 | -17 | c.*27 others(28): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 2687 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48135325 | TTCTTTCT others(10): Show |
T | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02622.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 3 | 312 | 0.0096 | -17 | c.*27 others(28): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 2706 | chrX | TogoVar | |||||||
SPACA7_chr13_112371355_112439689 | 112383116 | AAAAGAAA others(10): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG01070.hp2 others(20): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0111 a0001c0001t0001g0141 a0001c0001t0001g0142 others(20): Show |
23 | 304 | 0.0757 | -17 | c.94+ others(32): Show |
SPACA7 | ENSG00000153498.12 | transcript | ENST00000283550.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPACA7_chr13_112371355_112439689 | 112414388 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 6 | 0.1667 | -17 | c.445 others(36): Show |
SPACA7 | ENSG00000153498.12 | transcript | ENST00000283550.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213728876 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02976.hp2 NA19043.hp1 NA19043.hp2 |
a0002a0006a0010 | a0002c0002a0006c0006a0010c0011 | a0002c0002t0001a0006c0006t0001a0010c0011t0001 | a0002c0002t0001g0018 a0006c0006t0001g0024 a0010c0011t0001g0086 |
3 | 17 | 0.1765 | -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 | 214126043 | CTTCCTTC others(10): Show |
C | intron_variant | MODIFIER | HG01256.hp1 NA20300.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0069 a0002c0002t0001g0076 |
2 | 85 | 0.0235 | -17 | c.159 others(38): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG4_chr20_35610829_35626094 | 35615102 | AAAAAATA others(10): Show |
A | upstream_gene_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 318 | 0.0031 | -17 | c.-90 others(26): Show |
SPAG4 | ENSG00000061656.11 | transcript | ENST00000374273.8 | protein_coding | 726 | chr20 | TogoVar | |||||||
SPARCL1_chr4_87468335_87534376 | 87486888 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0336 | 1 | 40 | 0.0250 | -17 | c.153 others(36): Show |
SPARCL1 | ENSG00000152583.13 | transcript | ENST00000282470.11 | protein_coding | 7/10 | chr4 | TogoVar | |||||||
SPAST_chr2_32058556_32162637 | 32083733 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG01934.hp2 HG02630.hp1 HG02717.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0006 | a0001c0001t0004g0247 a0001c0001t0004g0295 a0001c0001t0005g0197 others(3): Show |
6 | 340 | 0.0176 | -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 | 32146801 | TTGCAGTA others(10): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00621.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0189 a0001c0001t0002g0231 a0001c0001t0002g0232 others(4): Show |
7 | 340 | 0.0206 | -17 | c.168 others(34): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24191501 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG02280.hp2 others(7): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0104a0001c0002t0016a0001c0002t0051others(7): Show | a0001c0001t0104g0030 a0001c0002t0016g0202 a0001c0002t0051g0027 others(7): Show |
10 | 42 | 0.2381 | -17 | c.-11 others(38): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24288552 | TGGAATCC others(10): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(137): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0014others(91): Show | a0001c0001t0004g0078 a0001c0001t0004g0205 a0001c0001t0005g0087 others(137): Show |
140 | 354 | 0.3955 | -17 | c.266 others(34): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA18_chr4_52046304_52102299 | 52047798 | TATTTATT others(10): Show |
T | upstream_gene_variant | MODIFIER | HG03540.hp2 HG03669.hp1 NA19043.hp1 |
a0003 | a0003c0005 | a0003c0005t0001a0003c0005t0004a0003c0005t0017 | a0003c0005t0001g0119 a0003c0005t0004g0121 a0003c0005t0017g0120 |
3 | 306 | 0.0098 | -17 | c.-39 others(28): Show |
SPATA18 | ENSG00000163071.11 | transcript | ENST00000295213.9 | protein_coding | 3505 | chr4 | TogoVar | |||||||
SPATA22_chr17_3435019_3476819 | 3435327 | CTTTTTTT others(10): Show |
C | downstream_gene_variant | MODIFIER | HG00597.hp1 HG00639.hp2 HG01361.hp2 others(11): Show |
a0002a0003a0005others(1): Show | a0002c0002a0002c0005a0003c0003others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0005t0001others(3): Show | a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0017 others(8): Show |
14 | 51 | 0.2745 | -17 | c.*48 others(28): Show |
SPATA22 | ENSG00000141255.13 | transcript | ENST00000572969.6 | protein_coding | 4691 | chr17 | TogoVar | |||||||
SPATA31D3_chr9_81938500_81955093 | 81945273 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG03710.hp1 NA18970.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0019 a0002c0002t0001g0019 |
5 | 68 | 0.0735 | -17 | c.293 others(30): Show |
SPATA31D3 | ENSG00000186788.14 | transcript | ENST00000445385.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPATA45_chr1_212825141_212852649 | 212826131 | TTAGGTTG others(10): Show |
T | downstream_gene_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 400 | 0.0025 | -17 | c.*40 others(28): Show |
SPATA45 | ENSG00000185523.6 | transcript | ENST00000332912.3 | protein_coding | 4009 | chr1 | TogoVar | |||||||
SPATA4_chr4_176179579_176200585 | 176194722 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 26 | 0.0385 | -17 | c.218 others(32): Show |
SPATA4 | ENSG00000150628.7 | transcript | ENST00000280191.7 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
SPATA5_chr4_122918078_123324433 | 122930909 | TTGTTTTA others(10): Show |
T | intron_variant | MODIFIER | HG01346.hp1 HG01934.hp2 HG02165.hp1 others(9): Show |
a0003a0004 | a0003c0003a0004c0006 | a0003c0003t0001a0003c0003t0002a0003c0003t0005others(6): Show | a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0002g0015 others(9): Show |
12 | 260 | 0.0462 | -17 | c.446 others(34): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123007577 | TGTGTGTG others(10): Show |
T | intron_variant | MODIFIER | HG01361.hp1 HG01891.hp1 HG02559.hp1 others(10): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(8): Show | a0002c0002t0001g0160 a0002c0002t0001g0162 a0002c0002t0002g0163 others(10): Show |
13 | 256 | 0.0508 | -17 | c.187 others(38): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | chr4 | TogoVar | |||||||
SPATA6L_chr9_4593316_4671480 | 4605146 | AAGCCAGC others(10): Show |
A | intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 406 | 0.0025 | -17 | c.108 others(34): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 10/11 | chr9 | TogoVar | |||||||
SPATA6L_chr9_4593316_4671480 | 4638780 | CTTTTCTT others(10): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG06807.hp1 |
a0005a0010 | a0005c0009a0010c0017 | a0005c0009t0033a0010c0017t0052 | a0005c0009t0033g0177 a0005c0009t0033g0180 a0010c0017t0052g0187 |
3 | 406 | 0.0074 | -17 | c.227 others(34): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 3/11 | chr9 | TogoVar |