regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SOX5_chr12_23524504_23954670 | 23530818 | T | TGTGTGTG others(31): Show |
3_prime_UTR_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0112 | a0001c0001t0112g0001 | 1 | 212 | 0.0047 | 38 | c.*34 others(49): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 15/15 | 3400 | chr12 | TogoVar | |||||
SP3_chr2_173895775_173970373 | 173935854 | A | ACAACGGA others(31): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG01261.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0033a0001c0001t0090 | a0001c0001t0012g0292a0001c0001t0012g0293a0001c0001t0012g0295others(7): Show | 10 | 356 | 0.0281 | 38 | c.164 others(59): Show |
SP3 | ENSG00000172845.18 | transcript | ENST00000310015.12 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
SPACA4_chr19_48601742_48612714 | 48602704 | A | AAAAAAAA others(31): Show |
upstream_gene_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 392 | 0.0026 | 38 | c.-42 others(49): Show |
SPACA4 | ENSG00000177202.3 | transcript | ENST00000321762.3 | protein_coding | 4037 | chr19 | TogoVar | ||||||
SPACA6_chr19_51688330_51710190 | 51704952 | A | AGGCCCCC others(31): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0004 | a0004c0010 | a0004c0010t0001 | a0004c0010t0001g0039 | 1 | 416 | 0.0024 | 38 | c.942 others(53): Show |
SPACA6 | ENSG00000182310.16 | transcript | ENST00000637797.2 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SPAG16_chr2_213279464_214415501 | 213860474 | T | TATAGATA others(31): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01496.hp1 HG01516.hp1 others(11): Show |
a0003a0009 | a0003c0003a0009c0009 | a0003c0003t0001a0009c0009t0001 | a0003c0003t0001g0026a0003c0003t0001g0028a0003c0003t0001g0029others(11): Show | 14 | 86 | 0.1628 | 38 | c.107 others(57): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPAG16_chr2_213279464_214415501 | 213860474 | T | TATAGATA others(31): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0062 | 1 | 86 | 0.0116 | 38 | c.107 others(57): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPAG17_chr1_117948590_118190228 | 118089354 | T | TGTGTGTG others(31): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02074.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0028a0002c0002t0001g0035 | 2 | 266 | 0.0075 | 38 | c.135 others(57): Show |
SPAG17 | ENSG00000155761.14 | transcript | ENST00000336338.10 | protein_coding | 10/48 | chr1 | TogoVar | ||||||
SPAG5_chr17_28572574_28604025 | 28600750 | A | AAAAAAAA others(31): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 330 | 0.0030 | 38 | c.-18 others(49): Show |
SPAG5 | ENSG00000076382.17 | transcript | ENST00000321765.10 | protein_coding | 1726 | chr17 | TogoVar | ||||||
SPAG5_chr17_28572574_28604025 | 28600750 | A | AAAAAAAA others(31): Show |
upstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0149 | 1 | 330 | 0.0030 | 38 | c.-18 others(49): Show |
SPAG5 | ENSG00000076382.17 | transcript | ENST00000321765.10 | protein_coding | 1726 | chr17 | TogoVar | ||||||
SPAG5_chr17_28572574_28604025 | 28600750 | A | AAAAAATA others(31): Show |
upstream_gene_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 330 | 0.0030 | 38 | c.-18 others(49): Show |
SPAG5 | ENSG00000076382.17 | transcript | ENST00000321765.10 | protein_coding | 1726 | chr17 | TogoVar | ||||||
SPAG5_chr17_28572574_28604025 | 28600750 | A | AATATATA others(31): Show |
upstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 330 | 0.0030 | 38 | c.-18 others(49): Show |
SPAG5 | ENSG00000076382.17 | transcript | ENST00000321765.10 | protein_coding | 1726 | chr17 | TogoVar | ||||||
SPAG6_chr10_22340496_22422610 | 22413688 | G | GATATATA others(31): Show |
intron_variant | MODIFIER | HG02602.hp1 HG02965.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0008 | a0002c0002t0001g0010a0002c0002t0008g0007 | 2 | 142 | 0.0141 | 38 | c.146 others(57): Show |
SPAG6 | ENSG00000077327.16 | transcript | ENST00000376624.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SPAST_chr2_32058556_32162637 | 32110794 | G | GAGTATAT others(31): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 342 | 0.0029 | 38 | c.683 others(55): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 4/16 | chr2 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24309283 | T | TTATATAT others(31): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG01071.hp1 HG01261.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0112a0001c0002t0122a0001c0003t0004others(1): Show | a0001c0001t0112g0223a0001c0002t0122g0278a0001c0003t0004g0253others(1): Show | 4 | 356 | 0.0112 | 38 | c.*65 others(49): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 2215 | chr13 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217749985 | C | CTATATAT others(31): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 252 | 0.0040 | 38 | c.519 others(55): 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(31): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 252 | 0.0040 | 38 | c.519 others(55): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SPATA32_chr17_45249393_45267094 | 45262511 | G | GGCACCCC others(31): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00621.hp1 others(21): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0005a0001c0001t0001g0025a0001c0001t0001g0043others(6): Show | 24 | 414 | 0.0580 | 38 | c.-49 others(47): Show |
SPATA32 | ENSG00000184361.13 | transcript | ENST00000331780.5 | protein_coding | 418 | chr17 | TogoVar | ||||||
SPATA32_chr17_45249393_45267094 | 45262516 | C | CCCGTGTG others(31): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 HG02559.hp2 HG02717.hp2 others(5): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0001 | a0001c0003t0001g0015a0001c0003t0001g0112a0002c0002t0001g0111 | 8 | 414 | 0.0193 | 38 | c.-50 others(47): Show |
SPATA32 | ENSG00000184361.13 | transcript | ENST00000331780.5 | protein_coding | 423 | chr17 | TogoVar | ||||||
SPATA32_chr17_45249393_45267094 | 45262554 | C | CCCGTGTG others(31): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00438.hp1 others(54): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002 | a0001c0001t0001a0001c0009t0001a0002c0002t0001 | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0010others(17): Show | 57 | 414 | 0.1377 | 38 | c.-53 others(47): Show |
SPATA32 | ENSG00000184361.13 | transcript | ENST00000331780.5 | protein_coding | 461 | chr17 | TogoVar | ||||||
SPATA48_chr7_50090883_50164256 | 50125319 | C | CATATATA others(31): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0018a0002c0002t0003g0242a0002c0002t0003g0243others(2): Show | 5 | 328 | 0.0152 | 38 | c.652 others(55): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SPATA5_chr4_122918078_123324433 | 123174811 | A | ATCTTTTT others(31): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 262 | 0.0038 | 38 | c.234 others(59): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SPATS2L_chr2_200301693_200487264 | 200468347 | T | TACACACA others(31): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01884.hp1 HG03225.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0001t0059a0001c0002t0045 | a0001c0001t0014g0050a0001c0001t0059g0026a0001c0002t0045g0291 | 3 | 300 | 0.0100 | 38 | c.957 others(53): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPDYE10_chr7_73099008_73160431 | 73134537 | A | AAGAAAGA others(31): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00621.hp2 others(11): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0002a0001c0002t0001a0001c0005t0014others(3): Show | a0001c0001t0002g0037a0001c0002t0001g0080a0001c0002t0001g0084others(11): Show | 14 | 216 | 0.0648 | 38 | c.-63 others(59): Show |
SPDYE10 | ENSG00000274570.6 | transcript | ENST00000691996.1 | protein_coding | 1/8 | chr7 | TogoVar | ||||||
SPDYE2B_chr7_102645319_102667625 | 102646940 | G | GAAAGAAA others(31): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG01928.hp2 HG01975.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0002c0002t0001others(1): Show | a0001c0001t0001g0012a0001c0001t0001g0026a0001c0001t0006g0001others(2): Show | 6 | 128 | 0.0469 | 38 | c.-38 others(49): Show |
SPDYE2B | ENSG00000173678.15 | transcript | ENST00000507450.6 | protein_coding | 3378 | chr7 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20021702 | A | ATATATAT others(31): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0004 | a0004c0005 | a0004c0005t0009 | a0004c0005t0009g0241 | 1 | 250 | 0.0040 | 38 | c.-22 others(57): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SPECC1_chr17_20004359_20324026 | 20298948 | A | AGAGAGAG others(31): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0010 | a0001c0010t0099 | a0001c0010t0099g0173 | 1 | 250 | 0.0040 | 38 | c.305 others(57): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SPEF2_chr5_35612863_35819611 | 35751001 | A | ATATATAC others(31): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0008 | 1 | 268 | 0.0037 | 38 | c.333 others(57): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 23/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SPEF2_chr5_35612863_35819611 | 35751062 | T | TACATACG others(31): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0217 | 1 | 268 | 0.0037 | 38 | c.333 others(57): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 23/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SPEF2_chr5_35612863_35819611 | 35751096 | C | CACACACA others(31): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02922.hp2 |
a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0166a0008c0009t0001g0168 | 2 | 268 | 0.0075 | 38 | c.333 others(57): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 23/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SPICE1_chr3_113437718_113520156 | 113480930 | A | AAGAAAGA others(31): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 1 | 364 | 0.0028 | 38 | c.611 others(55): Show |
SPICE1 | ENSG00000163611.11 | transcript | ENST00000295872.8 | protein_coding | 7/17 | chr3 | TogoVar | ||||||
SPICE1_chr3_113437718_113520156 | 113480936 | A | AAAGAAAG others(31): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0295 | 1 | 364 | 0.0028 | 38 | c.611 others(55): Show |
SPICE1 | ENSG00000163611.11 | transcript | ENST00000295872.8 | protein_coding | 7/17 | chr3 | TogoVar | ||||||
SPIN1_chr9_88383444_88483694 | 88441398 | C | CGCGTGTG others(31): Show |
intron_variant | MODIFIER | HG01884.hp1 NA20129.hp1 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0141a0001c0002t0006g0142 | 2 | 176 | 0.0114 | 38 | c.53- others(53): Show |
SPIN1 | ENSG00000106723.17 | transcript | ENST00000375859.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SPIN1_chr9_88383444_88483694 | 88441398 | C | CGTGTGTG others(31): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0067 | 1 | 176 | 0.0057 | 38 | c.53- others(53): Show |
SPIN1 | ENSG00000106723.17 | transcript | ENST00000375859.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SPIN1_chr9_88383444_88483694 | 88441414 | T | TGTGTGTG others(31): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0041 | 1 | 176 | 0.0057 | 38 | c.53- others(53): Show |
SPIN1 | ENSG00000106723.17 | transcript | ENST00000375859.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SPIN1_chr9_88383444_88483694 | 88441414 | T | TGTGTGTG others(31): Show |
intron_variant | MODIFIER | HG03710.hp2 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0042a0001c0001t0003g0032 | 2 | 176 | 0.0114 | 38 | c.53- others(53): Show |
SPIN1 | ENSG00000106723.17 | transcript | ENST00000375859.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SPIN1_chr9_88383444_88483694 | 88441414 | T | TGTGTGTG others(31): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0012 | 1 | 176 | 0.0057 | 38 | c.53- others(53): Show |
SPIN1 | ENSG00000106723.17 | transcript | ENST00000375859.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SPIN1_chr9_88383444_88483694 | 88441414 | T | TGTGTGTG others(31): Show |
intron_variant | MODIFIER | HG00140.hp2 HG03225.hp2 NA18978.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0036a0001c0001t0002g0065a0001c0001t0005g0026 | 3 | 176 | 0.0171 | 38 | c.53- others(53): Show |
SPIN1 | ENSG00000106723.17 | transcript | ENST00000375859.4 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SPIRE2_chr16_89823475_89876319 | 89852212 | C | CCCCACCC others(31): Show |
intron_variant | MODIFIER | HG06807.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282a0001c0001t0001g0283 | 2 | 356 | 0.0056 | 38 | c.645 others(55): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SPIRE2_chr16_89823475_89876319 | 89852684 | C | CCACCCCC others(31): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 356 | 0.0028 | 38 | c.646 others(55): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89869053 | A | AAAAAAAA others(31): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 356 | 0.0028 | 38 | c.180 others(55): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SPIRE2_chr16_89823475_89876319 | 89869053 | A | AAAAAAAA others(31): Show |
intron_variant | MODIFIER | NA18945.hp1 NA18945.hp2 NA18974.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0180a0001c0001t0001g0181a0001c0001t0001g0207others(2): Show | 5 | 356 | 0.0140 | 38 | c.180 others(55): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SPIRE2_chr16_89823475_89876319 | 89869053 | A | AAAAAACA others(31): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0341 | 1 | 356 | 0.0028 | 38 | c.180 others(55): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SPIRE2_chr16_89823475_89876319 | 89869053 | A | AAAAAATA others(31): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 356 | 0.0028 | 38 | c.180 others(55): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SPOCD1_chr1_31785422_31821022 | 31817120 | A | ATATATAT others(31): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 NA18986.hp2 |
a0001a0010 | a0001c0001a0010c0020 | a0001c0001t0001a0010c0020t0001 | a0001c0001t0001g0038a0010c0020t0001g0244 | 2 | 260 | 0.0077 | 38 | c.-12 others(49): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 1099 | chr1 | TogoVar | ||||||
SPOCK1_chr5_136970298_137504326 | 137131989 | A | AAAAAAAA others(31): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0009 | 1 | 152 | 0.0066 | 38 | c.347 others(55): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 4/10 | chr5 | TogoVar | ||||||
SPOCK1_chr5_136970298_137504326 | 137356838 | T | TATATATA others(31): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0059 | 1 | 152 | 0.0066 | 38 | c.187 others(57): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 2/10 | chr5 | TogoVar | ||||||
SPOCK1_chr5_136970298_137504326 | 137356838 | T | TATATATA others(31): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 152 | 0.0066 | 38 | c.187 others(57): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 2/10 | chr5 | TogoVar | ||||||
SPOCK3_chr4_166728384_167239494 | 166860802 | C | CATATATA others(31): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG02965.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0108a0001c0001t0002g0135a0001c0001t0003g0025others(2): Show | 5 | 144 | 0.0347 | 38 | c.589 others(57): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 6/10 | chr4 | TogoVar | ||||||
SPOCK3_chr4_166728384_167239494 | 166860802 | C | CATATATA others(31): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00621.hp1 HG01952.hp1 others(15): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0085a0001c0001t0001g0091a0001c0001t0001g0092others(15): Show | 18 | 144 | 0.1250 | 38 | c.589 others(57): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 6/10 | chr4 | TogoVar | ||||||
SPOCK3_chr4_166728384_167239494 | 166860802 | C | CATATATA others(31): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02451.hp2 HG02976.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0004 | a0001c0001t0001a0001c0005t0003a0002c0004t0003 | a0001c0001t0001g0015a0001c0001t0001g0046a0001c0005t0003g0003others(1): Show | 4 | 144 | 0.0278 | 38 | c.589 others(57): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 6/10 | chr4 | TogoVar |