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 | 217629226 | GTCATACA | G | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00609.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(10): Show | a0001c0001t0001g0209 a0001c0001t0001g0216 a0001c0001t0005g0084 others(32): Show |
35 | 250 | 0.1400 | -7 | c.-21 others(18): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 2117 | chr1 | TogoVar | |||||||
SPATA17_chr1_217626344_217876696 | 217689221 | CTTTTTTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG01069.hp1 others(39): Show |
a0001 | a0001c0003a0001c0004a0001c0008others(2): Show | a0001c0003t0001a0001c0003t0003a0001c0003t0014others(18): Show | a0001c0003t0001g0215 a0001c0003t0001g0220 a0001c0003t0001g0231 others(39): Show |
42 | 85 | 0.4941 | -7 | c.395 others(24): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217710813 | TTTATTAG | T | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG01069.hp1 others(40): Show |
a0001 | a0001c0003a0001c0004a0001c0008others(2): Show | a0001c0003t0001a0001c0003t0003a0001c0003t0014others(18): Show | a0001c0003t0001g0215 a0001c0003t0001g0220 a0001c0003t0001g0231 others(40): Show |
43 | 250 | 0.1720 | -7 | c.395 others(26): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217770978 | ATTTTTTT | A | intron_variant | MODIFIER | HG01109.hp1 HG02451.hp1 HG02559.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0006 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(4): Show | a0001c0001t0001g0090 a0001c0001t0001g0126 a0001c0001t0005g0089 others(7): Show |
10 | 34 | 0.2941 | -7 | c.520 others(24): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217809578 | TTATAATA | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00438.hp2 others(70): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0041 others(70): Show |
73 | 250 | 0.2920 | -7 | c.100 others(26): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 9/10 | chr1 | TogoVar | |||||||
SPATA18_chr4_52046304_52102299 | 52047808 | TTTATTTA | T | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02258.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0020a0001c0001t0021 | a0001c0001t0004g0221 a0001c0001t0020g0222 a0001c0001t0021g0218 |
3 | 306 | 0.0098 | -7 | c.-38 others(18): Show |
SPATA18 | ENSG00000163071.11 | transcript | ENST00000295213.9 | protein_coding | 3495 | chr4 | TogoVar | |||||||
SPATA18_chr4_52046304_52102299 | 52056498 | GATCAGTA | G | intron_variant | MODIFIER | NA18957.hp1 NA19005.hp1 NA19072.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0035 a0002c0002t0001g0215 |
3 | 306 | 0.0098 | -7 | c.88- others(22): Show |
SPATA18 | ENSG00000163071.11 | transcript | ENST00000295213.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA19_chr11_133835631_133850513 | 133847725 | AGCTTTGT | A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(127): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(4): Show | a0001c0001t0001g0037 a0002c0002t0001g0010 a0002c0002t0001g0011 others(11): Show |
130 | 360 | 0.3611 | -7 | c.-22 others(18): Show |
SPATA19 | ENSG00000166118.8 | transcript | ENST00000299140.8 | protein_coding | 2213 | chr11 | TogoVar | |||||||
SPATA1_chr1_84501386_84572379 | 84560098 | AAAGAAAG | A | intron_variant | MODIFIER | HG00140.hp1 HG00621.hp1 HG02145.hp1 others(8): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0003a0001c0003t0004others(3): Show | a0001c0001t0001g0183 a0001c0003t0003g0106 a0001c0003t0004g0002 others(8): Show |
11 | 298 | 0.0369 | -7 | c.129 others(26): Show |
SPATA1 | ENSG00000122432.19 | transcript | ENST00000699524.1 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA45_chr1_212825141_212852649 | 212826759 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00597.hp1 HG00673.hp2 NA18747.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0068 |
15 | 134 | 0.1119 | -7 | c.*34 others(18): Show |
SPATA45 | ENSG00000185523.6 | transcript | ENST00000332912.3 | protein_coding | 3381 | chr1 | TogoVar | |||||||
SPATA5_chr4_122918078_123324433 | 123082523 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(78): Show |
a0001a0007a0008 | a0001c0001a0001c0005a0007c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0062 others(78): Show |
81 | 171 | 0.4737 | -7 | c.221 others(26): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123123951 | CAAAAAAA | C | intron_variant | MODIFIER | HG01192.hp2 HG02257.hp2 HG02280.hp1 others(3): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0012a0001c0001t0051a0005c0008t0015others(1): Show | a0001c0001t0012g0241 a0001c0001t0012g0244 a0001c0001t0012g0246 others(3): Show |
6 | 108 | 0.0556 | -7 | c.234 others(28): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123272327 | GTTTGTTA | G | intron_variant | MODIFIER | HG02630.hp2 NA18522.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0038 | a0001c0001t0018g0001 a0001c0001t0018g0002 a0001c0001t0038g0141 |
3 | 260 | 0.0115 | -7 | c.250 others(28): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA6L_chr9_4593316_4671480 | 4606481 | TGCCTGAC | T | intron_variant | MODIFIER | HG02451.hp2 HG02630.hp1 HG02717.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0018 | a0001c0001t0002g0154 a0001c0001t0002g0179 a0001c0001t0002g0278 others(1): Show |
4 | 406 | 0.0099 | -7 | c.996 others(24): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 9/11 | chr9 | TogoVar | |||||||
SPATA6L_chr9_4593316_4671480 | 4638790 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp2 others(25): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0013a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0336 a0001c0001t0002g0339 a0001c0001t0003g0025 others(25): Show |
28 | 386 | 0.0725 | -7 | c.227 others(24): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 3/11 | chr9 | TogoVar | |||||||
SPATA6L_chr9_4593316_4671480 | 4644183 | CAAAAAAA | C | intron_variant | MODIFIER | HG00544.hp1 HG01123.hp1 HG02109.hp2 others(9): Show |
a0001a0002a0010others(1): Show | a0001c0001a0002c0002a0002c0005others(2): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0015others(5): Show | a0001c0001t0002g0281 a0001c0001t0002g0289 a0001c0001t0002g0301 others(9): Show |
12 | 56 | 0.2143 | -7 | c.227 others(24): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 3/11 | chr9 | TogoVar | |||||||
SPATA6L_chr9_4593316_4671480 | 4656926 | TACTAGCA | T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(30): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0006a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0070 a0001c0001t0001g0079 a0001c0001t0002g0073 others(30): Show |
33 | 406 | 0.0813 | -7 | c.178 others(22): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 2/11 | chr9 | TogoVar | |||||||
SPATA6_chr1_48290373_48477204 | 48360275 | TAAATGTA | T | intron_variant | MODIFIER | HG00140.hp2 HG01081.hp1 HG01168.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0002c0002t0019 | a0001c0001t0006g0144 a0001c0001t0006g0145 a0001c0001t0006g0146 others(8): Show |
11 | 320 | 0.0344 | -7 | c.910 others(22): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 9/12 | chr1 | TogoVar | |||||||
SPATS1_chr6_44337650_44385179 | 44379621 | AAAAAAAG | A | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(55): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0003a0002c0002t0003a0002c0002t0014others(5): Show | a0001c0001t0003g0025 a0001c0001t0003g0116 a0002c0002t0003g0001 others(44): Show |
58 | 390 | 0.1487 | -7 | c.*25 others(18): Show |
SPATS1 | ENSG00000249481.7 | transcript | ENST00000674044.1 | protein_coding | 9/9 | 2562 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SPATS2L_chr2_200301693_200487264 | 200396032 | AAATATAT | A | intron_variant | MODIFIER | HG00738.hp1 HG01993.hp1 HG02027.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0053 | a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0183 others(3): Show |
6 | 295 | 0.0203 | -7 | c.39+ others(22): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200396034 | ATATATAT | A | intron_variant | MODIFIER | HG00423.hp1 HG00642.hp1 HG00735.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(4): Show | a0001c0001t0002g0175 a0001c0001t0005g0186 a0001c0001t0007g0161 others(10): Show |
13 | 289 | 0.0450 | -7 | c.39+ others(22): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 3/12 | chr2 | TogoVar | |||||||
SPATS2_chr12_49362462_49532425 | 49375186 | GTGTGTGT | G | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02258.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0050 others(8): Show |
11 | 156 | 0.0705 | -7 | c.-24 others(26): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 2/13 | chr12 | TogoVar | |||||||
SPATS2_chr12_49362462_49532425 | 49435638 | CTTTTTTT | C | intron_variant | MODIFIER | HG01167.hp1 HG02486.hp1 HG02896.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0068 a0001c0001t0004g0124 a0001c0001t0004g0125 others(2): Show |
5 | 76 | 0.0658 | -7 | c.-24 others(28): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49442785 | TTAAAAAA | T | intron_variant | MODIFIER | HG02809.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0034 a0001c0001t0007g0035 |
2 | 74 | 0.0270 | -7 | c.-24 others(28): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 2/13 | chr12 | TogoVar | |||||||
SPATS2_chr12_49362462_49532425 | 49516167 | ATATATAT | A | intron_variant | MODIFIER | HG01891.hp1 HG02615.hp1 HG03239.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 a0001c0001t0001g0086 a0001c0001t0001g0095 others(3): Show |
6 | 126 | 0.0476 | -7 | c.898 others(24): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 10/13 | chr12 | TogoVar | |||||||
SPC24_chr19_11140493_11160782 | 11147908 | CAAAAAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00597.hp1 others(120): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(53): Show | a0001c0001t0002g0004 a0001c0001t0002g0014 a0001c0001t0002g0029 others(88): Show |
123 | 357 | 0.3445 | -7 | c.411 others(20): Show |
SPC24 | ENSG00000161888.12 | transcript | ENST00000592540.6 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
SPCS1_chr3_52701106_52716148 | 52709700 | CAAAAAAA | C | 3_prime_UTR_variant | MODIFIER | HG00741.hp1 HG01167.hp2 HG01346.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0027 | a0001c0001t0011g0002 a0001c0001t0027g0002 |
6 | 201 | 0.0299 | -7 | c.*19 others(18): Show |
SPCS1 | ENSG00000114902.14 | transcript | ENST00000619898.5 | protein_coding | 4/4 | 1904 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SPCS3_chr4_176314966_176337245 | 176328436 | GTTTTTTT | G | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(79): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0001c0001t0013a0001c0001t0026others(5): Show | a0001c0001t0003g0003 a0001c0001t0003g0029 a0001c0001t0003g0030 others(19): Show |
82 | 412 | 0.1990 | -7 | c.*11 others(16): Show |
SPCS3 | ENSG00000129128.13 | transcript | ENST00000503362.2 | protein_coding | 5/5 | 119 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SPDEF_chr6_34532802_34561329 | 34543214 | AAAAAAAG | A | intron_variant | MODIFIER | HG01928.hp1 HG02698.hp1 HG02818.hp2 others(5): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0002t0002a0002c0002t0005others(1): Show | a0002c0002t0001g0116 a0002c0002t0002g0086 a0002c0002t0002g0087 others(5): Show |
8 | 380 | 0.0211 | -7 | c.436 others(22): Show |
SPDEF | ENSG00000124664.11 | transcript | ENST00000374037.8 | protein_coding | 2/5 | chr6 | TogoVar | |||||||
SPDYA_chr2_28805834_28855610 | 28827977 | TTTTTTTC | T | intron_variant | MODIFIER | HG01884.hp1 HG02451.hp1 HG06807.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 others(1): Show |
4 | 336 | 0.0119 | -7 | c.381 others(24): Show |
SPDYA | ENSG00000163806.16 | transcript | ENST00000334056.10 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPDYE10_chr7_73099008_73160431 | 73127082 | CTTTTTTT | C | intron_variant | MODIFIER | HG02258.hp1 HG02965.hp2 HG03195.hp2 others(2): Show |
a0002a0006 | a0002c0003a0006c0008 | a0002c0003t0004a0006c0008t0004 | a0002c0003t0004g0055 a0002c0003t0004g0056 a0002c0003t0004g0057 others(2): Show |
5 | 63 | 0.0794 | -7 | c.-63 others(28): Show |
SPDYE10 | ENSG00000274570.6 | transcript | ENST00000691996.1 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
SPDYE10_chr7_73099008_73160431 | 73150908 | ATATATAT | A | intron_variant | MODIFIER | HG00738.hp1 HG02145.hp2 HG02965.hp1 others(2): Show |
a0001a0005 | a0001c0002a0005c0007 | a0001c0002t0001a0005c0007t0009 | a0001c0002t0001g0048 a0001c0002t0001g0064 a0001c0002t0001g0094 others(2): Show |
5 | 129 | 0.0388 | -7 | c.-64 others(26): Show |
SPDYE10 | ENSG00000274570.6 | transcript | ENST00000691996.1 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
SPDYE16_chr7_76526313_76548297 | 76543896 | AAAAAAAG | A | upstream_gene_variant | MODIFIER | HG00408.hp2 HG01074.hp2 HG01175.hp2 others(6): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0018 a0003c0003t0002g0019 a0003c0003t0002g0076 others(6): Show |
9 | 254 | 0.0354 | -7 | c.-11 others(18): Show |
SPDYE16 | ENSG00000185040.14 | transcript | ENST00000633306.2 | protein_coding | 600 | chr7 | TogoVar | |||||||
SPDYE21_chr7_67271941_67294005 | 67280691 | CAAAAAAA | C | intron_variant | MODIFIER | HG01123.hp2 HG01256.hp2 HG01496.hp2 others(15): Show |
a0005a0008 | a0005c0005a0008c0009 | a0005c0005t0004a0005c0005t0012a0005c0005t0019others(1): Show | a0005c0005t0004g0006 a0005c0005t0012g0006 a0005c0005t0012g0117 others(4): Show |
18 | 72 | 0.2500 | -7 | c.380 others(22): Show |
SPDYE21 | ENSG00000230358.6 | transcript | ENST00000424157.4 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPDYE21_chr7_67271941_67294005 | 67281096 | CAACAAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(114): Show |
a0002a0009a0013others(2): Show | a0002c0002a0002c0010a0009c0011others(3): Show | a0002c0002t0001a0002c0002t0009a0002c0002t0018others(6): Show | a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0005 others(39): Show |
117 | 439 | 0.2665 | -7 | c.380 others(22): Show |
SPDYE21 | ENSG00000230358.6 | transcript | ENST00000424157.4 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPDYE2B_chr7_102645319_102667625 | 102662866 | TATTTTTA | T | downstream_gene_variant | MODIFIER | HG01175.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0093 a0001c0001t0014g0084 |
2 | 123 | 0.0163 | -7 | c.*17 others(18): Show |
SPDYE2B | ENSG00000173678.15 | transcript | ENST00000507450.6 | protein_coding | 242 | chr7 | TogoVar | |||||||
SPDYE2_chr7_102546226_102568538 | 102547901 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG00609.hp2 others(13): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0011a0001c0032others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(8): Show | a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0133 others(12): Show |
16 | 51 | 0.3137 | -7 | c.-38 others(18): Show |
SPDYE2 | ENSG00000205238.12 | transcript | ENST00000691607.2 | protein_coding | 3324 | chr7 | TogoVar | |||||||
SPDYE2_chr7_102546226_102568538 | 102559002 | CAAAAAAA | C | intron_variant | MODIFIER | HG02280.hp2 HG02717.hp2 HG02965.hp2 others(2): Show |
a0001a0009 | a0001c0001a0009c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(1): Show | a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0002g0019 others(2): Show |
5 | 16 | 0.3125 | -7 | c.755 others(22): Show |
SPDYE2 | ENSG00000205238.12 | transcript | ENST00000691607.2 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPECC1L_chr22_24265831_24422738 | 24270209 | CTTTAATA | C | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01192.hp2 HG01891.hp1 others(6): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0005a0001c0008t0005 | a0001c0001t0005g0004 a0001c0001t0005g0309 a0001c0001t0005g0310 others(6): Show |
9 | 324 | 0.0278 | -7 | c.-91 others(16): Show |
SPECC1L | ENSG00000100014.20 | transcript | ENST00000314328.14 | protein_coding | 621 | chr22 | TogoVar | |||||||
SPECC1_chr17_20004359_20324026 | 20071813 | TGACACTC | T | intron_variant | MODIFIER | HG03098.hp2 HG03540.hp1 NA21309.hp1 |
a0001 | a0001c0003 | a0001c0003t0074a0001c0003t0075a0001c0003t0076 | a0001c0003t0074g0052 a0001c0003t0075g0054 a0001c0003t0076g0042 |
3 | 248 | 0.0121 | -7 | c.-21 others(26): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
SPECC1_chr17_20004359_20324026 | 20104740 | CAAAAAAA | C | intron_variant | MODIFIER | HG01069.hp1 HG01123.hp2 HG01496.hp1 others(25): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0003t0007others(13): Show | a0001c0001t0002g0200 a0001c0001t0004g0112 a0001c0003t0007g0056 others(25): Show |
28 | 172 | 0.1628 | -7 | c.148 others(24): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20107144 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(39): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0005a0002c0002t0020others(4): Show | a0002c0002t0001g0003 a0002c0002t0001g0012 a0002c0002t0001g0013 others(39): Show |
42 | 124 | 0.3387 | -7 | c.148 others(24): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20170715 | ATTTTTCT | A | intron_variant | MODIFIER | HG00140.hp2 HG01070.hp1 HG01099.hp2 others(71): Show |
a0001a0003 | a0001c0003a0003c0004a0003c0007others(2): Show | a0001c0003t0007a0001c0003t0012a0001c0003t0017others(36): Show | a0001c0003t0007g0056 a0001c0003t0007g0059 a0001c0003t0007g0062 others(71): Show |
74 | 248 | 0.2984 | -7 | c.284 others(26): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20264457 | ATTTTTTT | A | intron_variant | MODIFIER | HG00140.hp2 HG01070.hp1 HG01099.hp2 others(37): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004others(3): Show | a0001c0001t0004a0001c0003t0022a0001c0003t0054others(19): Show | a0001c0001t0004g0165 a0001c0003t0022g0196 a0001c0003t0022g0198 others(37): Show |
40 | 70 | 0.5714 | -7 | c.294 others(26): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20270433 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(103): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0008others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(57): Show | a0001c0001t0002g0105 a0001c0001t0002g0111 a0001c0001t0002g0113 others(103): Show |
106 | 117 | 0.9060 | -7 | c.294 others(28): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPEF1_chr20_3772504_3786448 | 3774054 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02451.hp2 others(16): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0020 others(7): Show |
19 | 67 | 0.2836 | -7 | c.*41 others(18): Show |
SPEF1 | ENSG00000101222.12 | transcript | ENST00000379756.3 | protein_coding | 3449 | chr20 | TogoVar | |||||||
SPEGNB_chr2_219491131_219503287 | 219499740 | TATTTGGG | T | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02615.hp1 HG02647.hp1 others(3): Show |
a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0010 a0004c0007t0001g0011 |
6 | 374 | 0.0160 | -7 | c.*15 others(18): Show |
SPEGNB | ENSG00000286095.3 | transcript | ENST00000651166.2 | protein_coding | 1454 | chr2 | TogoVar | |||||||
SPEN_chr1_15842707_15945456 | 15844551 | GTTTTTTT | G | upstream_gene_variant | MODIFIER | HG01074.hp2 HG01099.hp2 HG02486.hp1 others(7): Show |
a0001a0002a0022 | a0001c0004a0002c0002a0022c0032 | a0001c0004t0001a0002c0002t0001a0022c0032t0001 | a0001c0004t0001g0064 a0001c0004t0001g0081 a0001c0004t0001g0083 others(7): Show |
10 | 154 | 0.0649 | -7 | c.-35 others(18): Show |
SPEN | ENSG00000065526.13 | transcript | ENST00000375759.8 | protein_coding | 3155 | chr1 | TogoVar | |||||||
SPEN_chr1_15842707_15945456 | 15892012 | CTTTTTTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(68): Show |
a0001a0003a0005others(4): Show | a0001c0001a0001c0029a0003c0003others(5): Show | a0001c0001t0001a0001c0029t0001a0003c0003t0001others(6): Show | a0001c0001t0001g0106 a0001c0029t0001g0094 a0003c0003t0001g0109 others(68): Show |
71 | 136 | 0.5221 | -7 | c.881 others(26): Show |
SPEN | ENSG00000065526.13 | transcript | ENST00000375759.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPEN_chr1_15842707_15945456 | 15904452 | CAAAAAAA | C | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00735.hp1 others(30): Show |
a0001a0007 | a0001c0001a0001c0026a0001c0027others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 others(30): Show |
33 | 96 | 0.3438 | -7 | c.882 others(24): Show |
SPEN | ENSG00000065526.13 | transcript | ENST00000375759.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |