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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP110_chr2_230160186_230224984 | 230224010 | G | GCCCAGGA others(8): Show |
upstream_gene_variant | MODIFIER | NA18998.hp1 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0055 | 1 | 426 | 0.0023 | 15 | c.-41 others(26): Show |
SP110 | ENSG00000135899.20 | transcript | ENST00000258381.11 | protein_coding | 4027 | chr2 | TogoVar | |||||||
SP1_chr12_53375176_53421446 | 53382438 | T | TACCTGGA others(8): Show |
disruptive_inframe_insertion | MODERATE | NA18992.hp1 | a0005 | a0005c0005 | a0005c0005t0004 | a0005c0005t0004g0056 | 1 | 324 | 0.0031 | 15 | c.492 others(22): Show |
p.Pro others(28): Show |
SP1 | ENSG00000185591.10 | transcript | ENST00000327443.9 | protein_coding | 3/6 | 623/7680 | 507/2358 | 169/785 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
SP3_chr2_173895775_173970373 | 173939764 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01074.hp1 HG03098.hp1 NA18956.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0038others(1): Show | a0001c0001t0001g0154 a0001c0001t0006g0107 a0001c0001t0006g0114 others(3): Show |
6 | 23 | 0.2609 | 15 | c.163 others(36): Show |
SP3 | ENSG00000172845.18 | transcript | ENST00000310015.12 | protein_coding | 4/6 | chr2 | TogoVar | |||||||
SP9_chr2_174329954_174343500 | 174337471 | A | AGCGGCGG others(8): Show |
disruptive_inframe_insertion | MODERATE | HG02735.hp2 | a0006 | a0006c0015 | a0006c0015t0001 | a0006c0015t0001g0001 | 1 | 386 | 0.0026 | 15 | c.139 others(24): Show |
p.Ala others(28): Show |
SP9 | ENSG00000217236.2 | transcript | ENST00000394967.3 | protein_coding | 2/2 | 1533/2554 | 1394/1455 | 465/484 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
SPAAR_chr9_35904490_35916686 | 35906563 | C | CCCCCACC others(8): Show |
upstream_gene_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 418 | 0.0024 | 15 | c.-33 others(26): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2926 | chr9 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35906578 | T | TCACCACC others(8): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0003 | 2 | 416 | 0.0048 | 15 | c.-32 others(26): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2911 | chr9 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35906586 | T | TCCACCAC others(8): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 HG02630.hp2 HG02922.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0008 a0001c0001t0003g0001 a0001c0001t0005g0002 others(1): Show |
4 | 308 | 0.0130 | 15 | c.-32 others(26): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2903 | chr9 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35906586 | T | TCCACCTC others(8): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0002 | 1 | 305 | 0.0033 | 15 | c.-32 others(26): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2903 | chr9 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35906589 | A | ACCACCAC others(8): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 380 | 0.0053 | 15 | c.-32 others(26): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2900 | chr9 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35906595 | A | ACCACCAC others(8): Show |
upstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0001 | 1 | 412 | 0.0024 | 15 | c.-32 others(26): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2894 | chr9 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35906602 | C | CCCCCACC others(8): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 2 | 418 | 0.0048 | 15 | c.-32 others(26): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2887 | chr9 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35912298 | T | TTTGTATT others(8): Show |
downstream_gene_variant | MODIFIER | HG03831.hp2 HG03834.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 278 | 0.0108 | 15 | c.*16 others(26): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 613 | chr9 | TogoVar | |||||||
SPACA4_chr19_48601742_48612714 | 48602704 | A | AAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | NA18939.hp1 NA18959.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 191 | 0.0105 | 15 | c.-42 others(26): Show |
SPACA4 | ENSG00000177202.3 | transcript | ENST00000321762.3 | protein_coding | 4037 | chr19 | TogoVar | |||||||
SPACA4_chr19_48601742_48612714 | 48602704 | A | AAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 190 | 0.0053 | 15 | c.-42 others(26): Show |
SPACA4 | ENSG00000177202.3 | transcript | ENST00000321762.3 | protein_coding | 4037 | chr19 | TogoVar | |||||||
SPAG11A_chr8_7843008_7865943 | 7863212 | G | GTTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 130 | 0.0077 | 15 | c.*23 others(26): Show |
SPAG11A | ENSG00000178287.18 | transcript | ENST00000642566.2 | protein_coding | 2270 | chr8 | TogoVar | |||||||
SPAG11A_chr8_7843008_7865943 | 7863213 | A | ATTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG01167.hp2 HG02056.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0001a0001c0008t0001a0002c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0060 a0001c0001t0001g0081 others(2): Show |
5 | 8 | 0.6250 | 15 | c.*23 others(26): Show |
SPAG11A | ENSG00000178287.18 | transcript | ENST00000642566.2 | protein_coding | 2271 | chr8 | TogoVar | |||||||
SPAG11B_chr8_7445603_7468542 | 7448786 | C | CCCCTTCC others(8): Show |
downstream_gene_variant | MODIFIER | NA18942.hp2 NA19091.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 2 | 161 | 0.0124 | 15 | c.*19 others(26): Show |
SPAG11B | ENSG00000164871.18 | transcript | ENST00000398462.7 | protein_coding | 1816 | chr8 | TogoVar | |||||||
SPAG16_chr2_213279464_214415501 | 213292663 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0002 | 1 | 65 | 0.0154 | 15 | c.137 others(32): 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(8): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02615.hp2 HG02976.hp2 others(4): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0011 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(1): Show | a0001c0001t0001g0015 a0001c0001t0001g0035 a0001c0001t0001g0036 others(4): Show |
7 | 60 | 0.1167 | 15 | c.107 others(38): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213728876 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 15 | 0.0667 | 15 | c.107 others(38): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213814872 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 84 | 0.0119 | 15 | c.107 others(36): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | chr2 | TogoVar | |||||||
SPAG16_chr2_213279464_214415501 | 213833494 | A | ATATATTA others(8): Show |
intron_variant | MODIFIER | HG03225.hp1 NA19030.hp1 |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0002a0006c0006t0001 | a0001c0001t0002g0072 a0006c0006t0001g0082 |
2 | 78 | 0.0256 | 15 | c.107 others(36): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | chr2 | TogoVar | |||||||
SPAG16_chr2_213279464_214415501 | 213859178 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 39 | 0.0256 | 15 | c.107 others(34): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213859993 | T | TTGATGAT others(8): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0059 | 1 | 63 | 0.0159 | 15 | c.107 others(34): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213867923 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 49 | 0.0204 | 15 | c.121 others(34): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG17_chr1_117948590_118190228 | 118069344 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01433.hp2 HG02257.hp2 others(16): Show |
a0001a0002a0013 | a0001c0004a0001c0026a0001c0027others(3): Show | a0001c0004t0001a0001c0026t0001a0001c0027t0001others(3): Show | a0001c0004t0001g0060 a0001c0004t0001g0061 a0001c0004t0001g0062 others(16): Show |
19 | 122 | 0.1557 | 15 | c.238 others(34): Show |
SPAG17 | ENSG00000155761.14 | transcript | ENST00000336338.10 | protein_coding | 17/48 | chr1 | TogoVar | |||||||
SPAG1_chr8_100153587_100246904 | 100168687 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00438.hp1 others(94): Show |
a0001a0002a0004others(2): Show | a0001c0002a0001c0003a0001c0012others(7): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0003others(9): Show | a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0082 others(92): Show |
97 | 208 | 0.4663 | 15 | c.300 others(32): Show |
SPAG1 | ENSG00000104450.13 | transcript | ENST00000388798.7 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPAG1_chr8_100153587_100246904 | 100176807 | C | CCCTCTCC others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(76): Show |
a0001a0002a0004others(3): Show | a0001c0002a0001c0012a0001c0021others(6): Show | a0001c0002t0001a0001c0002t0007a0001c0012t0001others(7): Show | a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0082 others(74): Show |
79 | 186 | 0.4247 | 15 | c.301 others(30): Show |
SPAG1 | ENSG00000104450.13 | transcript | ENST00000388798.7 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPAG4_chr20_35610829_35626094 | 35615424 | A | AAAGAAAG others(8): Show |
upstream_gene_variant | MODIFIER | HG01433.hp1 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 116 | 0.0172 | 15 | c.-58 others(24): Show |
SPAG4 | ENSG00000061656.11 | transcript | ENST00000374273.8 | protein_coding | 404 | chr20 | TogoVar | |||||||
SPAG4_chr20_35610829_35626094 | 35615460 | G | GAAAGAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 295 | 0.0034 | 15 | c.-54 others(24): Show |
SPAG4 | ENSG00000061656.11 | transcript | ENST00000374273.8 | protein_coding | 368 | chr20 | TogoVar | |||||||
SPAG4_chr20_35610829_35626094 | 35616662 | C | CAACGGAG others(8): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 318 | 0.0031 | 15 | c.304 others(30): Show |
SPAG4 | ENSG00000061656.11 | transcript | ENST00000374273.8 | protein_coding | 1/11 | chr20 | TogoVar | |||||||
SPAG6_chr10_22340496_22422610 | 22346430 | G | GTTCTTCT others(8): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02055.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0019 |
2 | 58 | 0.0345 | 15 | c.121 others(30): Show |
SPAG6 | ENSG00000077327.16 | transcript | ENST00000376624.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SPAG9_chr17_50957174_51125868 | 51022943 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01168.hp2 HG01891.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004 | a0001c0001t0001a0001c0001t0022a0002c0003t0007others(4): Show | a0001c0001t0001g0208 a0001c0001t0001g0242 a0001c0001t0022g0070 others(5): Show |
8 | 155 | 0.0516 | 15 | c.784 others(32): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 6/29 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51053854 | A | AAGTATAT others(8): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 238 | 0.0042 | 15 | c.495 others(32): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 3/29 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51089620 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 184 | 0.0054 | 15 | c.304 others(32): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 1/29 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51104932 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 199 | 0.0050 | 15 | c.303 others(34): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 1/29 | chr17 | TogoVar | |||||||
SPARCL1_chr4_87468335_87534376 | 87486888 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03225.hp1 |
a0006 | a0006c0009 | a0006c0009t0002 | a0006c0009t0002g0276 a0006c0009t0002g0277 |
2 | 41 | 0.0488 | 15 | c.153 others(34): Show |
SPARCL1 | ENSG00000152583.13 | transcript | ENST00000282470.11 | protein_coding | 7/10 | chr4 | TogoVar | |||||||
SPAST_chr2_32058556_32162637 | 32081781 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 124 | 0.0081 | 15 | c.416 others(32): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAST_chr2_32058556_32162637 | 32083762 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 317 | 0.0032 | 15 | c.416 others(32): 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(8): Show |
intron_variant | MODIFIER | HG04199.hp2 HG04204.hp2 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0027 | a0001c0001t0001g0118 a0001c0001t0001g0171 a0001c0001t0027g0144 |
3 | 254 | 0.0118 | 15 | c.416 others(32): 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(8): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00673.hp2 HG01515.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0172 |
3 | 234 | 0.0128 | 15 | c.416 others(32): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAST_chr2_32058556_32162637 | 32111970 | T | TTAGTAGT others(8): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0017 | 1 | 121 | 0.0083 | 15 | c.683 others(32): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATA12_chr3_57055664_57080432 | 57067454 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02280.hp2 HG02300.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0002c0002t0005 | a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0078 others(5): Show |
11 | 124 | 0.0887 | 15 | c.-32 others(34): Show |
SPATA12 | ENSG00000186451.2 | transcript | ENST00000334325.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24168845 | A | AAATGGAT others(8): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0008 | a0002c0008t0025 | a0002c0008t0025g0178 | 1 | 354 | 0.0028 | 15 | c.-11 others(34): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24309306 | T | TATATATA others(8): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0007 | a0002c0007t0083 | a0002c0007t0083g0147 | 1 | 350 | 0.0029 | 15 | c.*65 others(26): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 2238 | chr13 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173069112 | G | GAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02818.hp2 HG02896.hp2 others(2): Show |
a0002a0004 | a0002c0002a0004c0006a0004c0008 | a0002c0002t0001a0004c0006t0001a0004c0008t0001 | a0002c0002t0001g0196 a0004c0006t0001g0097 a0004c0006t0001g0150 others(2): Show |
5 | 87 | 0.0575 | 15 | 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(8): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG01069.hp1 others(27): Show |
a0001 | a0001c0003a0001c0004a0001c0008others(2): Show | a0001c0003t0001a0001c0003t0003a0001c0003t0014others(12): Show | a0001c0003t0001g0215 a0001c0003t0001g0220 a0001c0003t0001g0231 others(27): Show |
30 | 217 | 0.1382 | 15 | c.395 others(34): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217705430 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0004 | a0001c0004t0027 | a0001c0004t0027g0237 | 1 | 60 | 0.0167 | 15 | c.395 others(34): 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(8): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0084 | 1 | 151 | 0.0066 | 15 | c.395 others(34): 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(8): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0230 | 1 | 185 | 0.0054 | 15 | c.396 others(34): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |