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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPC24_chr19_11140493_11160782 | 11151356 | GC | G | intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02965.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0058a0001c0001t0182a0001c0001t0185others(1): Show | a0001c0001t0058g0030 a0001c0001t0182g0159 a0001c0001t0185g0157 others(1): Show |
5 | 438 | 0.0114 | -1 | c.161 others(9): Show |
SPC24 | ENSG00000161888.12 | transcript | ENST00000592540.6 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
SPC24_chr19_11140493_11160782 | 11151619 | TG | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(299): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(150): Show | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0022 others(215): Show |
302 | 438 | 0.6895 | -1 | c.161 others(9): Show |
SPC24 | ENSG00000161888.12 | transcript | ENST00000592540.6 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
SPC24_chr19_11140493_11160782 | 11153292 | CA | C | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00609.hp2 others(56): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0009a0001c0001t0011a0001c0001t0014others(32): Show | a0001c0001t0009g0006 a0001c0001t0009g0011 a0001c0001t0009g0053 others(43): Show |
59 | 438 | 0.1347 | -1 | c.160 others(9): Show |
SPC24 | ENSG00000161888.12 | transcript | ENST00000592540.6 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
SPC24_chr19_11140493_11160782 | 11153910 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(244): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(123): Show | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0041 others(174): Show |
247 | 438 | 0.5639 | -1 | c.160 others(9): Show |
SPC24 | ENSG00000161888.12 | transcript | ENST00000592540.6 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
SPC24_chr19_11140493_11160782 | 11154077 | GA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(405): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(193): Show | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0022 others(293): Show |
408 | 438 | 0.9315 | -1 | c.160 others(9): Show |
SPC24 | ENSG00000161888.12 | transcript | ENST00000592540.6 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
SPC24_chr19_11140493_11160782 | 11156826 | TC | T | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02165.hp2 HG02809.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0014a0001c0001t0034others(4): Show | a0001c0001t0011g0307 a0001c0001t0014g0183 a0001c0001t0014g0309 others(7): Show |
11 | 438 | 0.0251 | -1 | c.-10 others(6): Show |
SPC24 | ENSG00000161888.12 | transcript | ENST00000592540.6 | protein_coding | 1045 | chr19 | TogoVar | |||||||
SPC24_chr19_11140493_11160782 | 11157182 | CT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(243): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(130): Show | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0041 others(177): Show |
246 | 438 | 0.5616 | -1 | c.-14 others(6): Show |
SPC24 | ENSG00000161888.12 | transcript | ENST00000592540.6 | protein_coding | 1401 | chr19 | TogoVar | |||||||
SPC24_chr19_11140493_11160782 | 11157494 | CT | C | upstream_gene_variant | MODIFIER | HG01074.hp2 HG01169.hp2 HG02622.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(4): Show | a0001c0001t0002g0004 a0001c0001t0002g0014 a0001c0001t0002g0029 others(7): Show |
11 | 438 | 0.0251 | -1 | c.-17 others(6): Show |
SPC24 | ENSG00000161888.12 | transcript | ENST00000592540.6 | protein_coding | 1713 | chr19 | TogoVar | |||||||
SPC24_chr19_11140493_11160782 | 11158482 | CA | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(143): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(87): Show | a0001c0001t0001g0001 a0001c0001t0001g0223 a0001c0001t0003g0224 others(111): Show |
146 | 438 | 0.3333 | -1 | c.-27 others(6): Show |
SPC24 | ENSG00000161888.12 | transcript | ENST00000592540.6 | protein_coding | 2701 | chr19 | TogoVar | |||||||
SPC24_chr19_11140493_11160782 | 11158655 | GT | G | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02165.hp2 HG02559.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0014a0001c0001t0054others(4): Show | a0001c0001t0011g0307 a0001c0001t0014g0183 a0001c0001t0014g0310 others(6): Show |
10 | 438 | 0.0228 | -1 | c.-28 others(6): Show |
SPC24 | ENSG00000161888.12 | transcript | ENST00000592540.6 | protein_coding | 2874 | chr19 | TogoVar | |||||||
SPC24_chr19_11140493_11160782 | 11159636 | AG | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(434): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(200): Show | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0022 others(309): Show |
437 | 438 | 0.9977 | -1 | c.-38 others(6): Show |
SPC24 | ENSG00000161888.12 | transcript | ENST00000592540.6 | protein_coding | 3855 | chr19 | TogoVar | |||||||
SPC25_chr2_168865891_168895430 | 168883776 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG00733.hp1 others(45): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0018 others(30): Show |
48 | 360 | 0.1333 | -1 | c.199 others(9): Show |
SPC25 | ENSG00000152253.9 | transcript | ENST00000282074.7 | protein_coding | 3/6 | chr2 | TogoVar | |||||||
SPC25_chr2_168865891_168895430 | 168885657 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG00733.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0040 others(16): Show |
27 | 360 | 0.0750 | -1 | c.199 others(9): Show |
SPC25 | ENSG00000152253.9 | transcript | ENST00000282074.7 | protein_coding | 3/6 | chr2 | TogoVar | |||||||
SPC25_chr2_168865891_168895430 | 168886050 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(248): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(115): Show |
251 | 360 | 0.6972 | -1 | c.199 others(9): Show |
SPC25 | ENSG00000152253.9 | transcript | ENST00000282074.7 | protein_coding | 3/6 | chr2 | TogoVar | |||||||
SPC25_chr2_168865891_168895430 | 168887421 | CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(169): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0048 others(88): Show |
172 | 360 | 0.4778 | -1 | c.199 others(9): Show |
SPC25 | ENSG00000152253.9 | transcript | ENST00000282074.7 | protein_coding | 3/6 | chr2 | TogoVar | |||||||
SPC25_chr2_168865891_168895430 | 168887442 | AG | A | intron_variant | MODIFIER | HG01074.hp2 HG01261.hp1 HG01516.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0042 a0001c0001t0001g0073 a0001c0001t0001g0113 others(11): Show |
27 | 360 | 0.0750 | -1 | c.199 others(9): Show |
SPC25 | ENSG00000152253.9 | transcript | ENST00000282074.7 | protein_coding | 3/6 | chr2 | TogoVar | |||||||
SPC25_chr2_168865891_168895430 | 168891711 | TG | T | upstream_gene_variant | MODIFIER | HG01255.hp1 HG01884.hp1 HG02258.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0011 a0001c0001t0003g0064 a0001c0001t0003g0132 others(4): Show |
11 | 360 | 0.0306 | -1 | c.-14 others(6): Show |
SPC25 | ENSG00000152253.9 | transcript | ENST00000282074.7 | protein_coding | 1282 | chr2 | TogoVar | |||||||
SPCS1_chr3_52701106_52716148 | 52703423 | CA | C | upstream_gene_variant | MODIFIER | HG02004.hp1 HG02523.hp1 HG02922.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0027others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0002g0002 others(2): Show |
6 | 410 | 0.0146 | -1 | c.-28 others(6): Show |
SPCS1 | ENSG00000114902.14 | transcript | ENST00000619898.5 | protein_coding | 2682 | chr3 | TogoVar | |||||||
SPCS1_chr3_52701106_52716148 | 52704458 | CA | C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00544.hp2 others(126): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0003g0001 others(17): Show |
129 | 410 | 0.3146 | -1 | c.-17 others(6): Show |
SPCS1 | ENSG00000114902.14 | transcript | ENST00000619898.5 | protein_coding | 1647 | chr3 | TogoVar | |||||||
SPCS1_chr3_52701106_52716148 | 52707565 | AT | A | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00544.hp2 others(186): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(26): Show | a0001c0001t0001g0011 a0001c0001t0002g0002 a0001c0001t0005g0002 others(28): Show |
189 | 410 | 0.4610 | -1 | c.184 others(8): Show |
SPCS1 | ENSG00000114902.14 | transcript | ENST00000619898.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SPCS1_chr3_52701106_52716148 | 52709181 | CA | C | 3_prime_UTR_variant | MODIFIER | HG00438.hp2 HG01891.hp1 HG02071.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0020a0001c0001t0029others(1): Show | a0001c0001t0013g0002 a0001c0001t0013g0005 a0001c0001t0020g0001 others(2): Show |
9 | 410 | 0.0220 | -1 | c.*13 others(6): Show |
SPCS1 | ENSG00000114902.14 | transcript | ENST00000619898.5 | protein_coding | 4/4 | 1385 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SPCS1_chr3_52701106_52716148 | 52709700 | CA | C | 3_prime_UTR_variant | MODIFIER | HG01515.hp1 HG02922.hp2 HG03486.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0026a0001c0001t0027 | a0001c0001t0017g0001 a0001c0001t0026g0001 a0001c0001t0027g0001 |
6 | 410 | 0.0146 | -1 | c.*19 others(6): Show |
SPCS1 | ENSG00000114902.14 | transcript | ENST00000619898.5 | protein_coding | 4/4 | 1910 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SPCS1_chr3_52701106_52716148 | 52710364 | TA | T | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(395): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(47): Show |
398 | 410 | 0.9707 | -1 | c.*25 others(6): Show |
SPCS1 | ENSG00000114902.14 | transcript | ENST00000619898.5 | protein_coding | 4/4 | 2567 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SPCS1_chr3_52701106_52716148 | 52713607 | CA | C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00544.hp2 others(132): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0010others(9): Show | a0001c0001t0002g0002 a0001c0001t0005g0002 a0001c0001t0010g0002 others(11): Show |
135 | 410 | 0.3293 | -1 | c.*57 others(6): Show |
SPCS1 | ENSG00000114902.14 | transcript | ENST00000619898.5 | protein_coding | 2460 | chr3 | TogoVar | |||||||
SPCS1_chr3_52701106_52716148 | 52713794 | CA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(186): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(22): Show |
189 | 410 | 0.4610 | -1 | c.*59 others(6): Show |
SPCS1 | ENSG00000114902.14 | transcript | ENST00000619898.5 | protein_coding | 2647 | chr3 | TogoVar | |||||||
SPCS1_chr3_52701106_52716148 | 52715936 | CT | C | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02622.hp1 HG02630.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007 | a0001c0001t0006g0002 a0001c0001t0006g0004 a0001c0001t0007g0002 others(1): Show |
25 | 410 | 0.0610 | -1 | c.*81 others(6): Show |
SPCS1 | ENSG00000114902.14 | transcript | ENST00000619898.5 | protein_coding | 4789 | chr3 | TogoVar | |||||||
SPCS2_chr11_74944266_74984033 | 74946754 | CT | C | upstream_gene_variant | MODIFIER | HG01099.hp2 HG01167.hp2 HG01884.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0170 a0001c0001t0001g0205 a0001c0001t0002g0043 others(6): Show |
10 | 378 | 0.0265 | -1 | c.-25 others(6): Show |
SPCS2 | ENSG00000118363.13 | transcript | ENST00000263672.11 | protein_coding | 2511 | chr11 | TogoVar | |||||||
SPCS2_chr11_74944266_74984033 | 74948347 | AC | A | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02258.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0002t0001g0023 others(9): Show |
13 | 378 | 0.0344 | -1 | c.-93 others(5): Show |
SPCS2 | ENSG00000118363.13 | transcript | ENST00000263672.11 | protein_coding | 918 | chr11 | TogoVar | |||||||
SPCS2_chr11_74944266_74984033 | 74951810 | CA | C | intron_variant | MODIFIER | HG00323.hp1 HG01891.hp1 HG02145.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 others(16): Show |
20 | 378 | 0.0529 | -1 | c.114 others(9): Show |
SPCS2 | ENSG00000118363.13 | transcript | ENST00000263672.11 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPCS2_chr11_74944266_74984033 | 74952443 | GT | G | intron_variant | MODIFIER | HG01099.hp2 HG01884.hp1 HG02055.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 a0001c0001t0002g0181 a0001c0001t0002g0276 others(5): Show |
9 | 378 | 0.0238 | -1 | c.114 others(9): Show |
SPCS2 | ENSG00000118363.13 | transcript | ENST00000263672.11 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPCS2_chr11_74944266_74984033 | 74953217 | AT | A | intron_variant | MODIFIER | HG00408.hp2 HG01069.hp1 HG01433.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0071 others(17): Show |
21 | 378 | 0.0556 | -1 | c.114 others(9): Show |
SPCS2 | ENSG00000118363.13 | transcript | ENST00000263672.11 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPCS2_chr11_74944266_74984033 | 74961035 | TA | T | intron_variant | MODIFIER | HG02258.hp1 HG02258.hp2 HG02280.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0001g0112 others(8): Show |
17 | 378 | 0.0450 | -1 | c.115 others(9): Show |
SPCS2 | ENSG00000118363.13 | transcript | ENST00000263672.11 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPCS2_chr11_74944266_74984033 | 74962548 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(97): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(3): Show | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 others(76): Show |
100 | 378 | 0.2646 | -1 | c.115 others(9): Show |
SPCS2 | ENSG00000118363.13 | transcript | ENST00000263672.11 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPCS2_chr11_74944266_74984033 | 74968518 | GT | G | intron_variant | MODIFIER | HG01099.hp2 HG01884.hp1 HG01891.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0002g0022 others(20): Show |
27 | 378 | 0.0714 | -1 | c.360 others(9): Show |
SPCS2 | ENSG00000118363.13 | transcript | ENST00000263672.11 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPCS2_chr11_74944266_74984033 | 74971749 | AT | A | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 HG03041.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 a0001c0001t0002g0287 a0001c0001t0002g0288 others(2): Show |
7 | 378 | 0.0185 | -1 | c.494 others(9): Show |
SPCS2 | ENSG00000118363.13 | transcript | ENST00000263672.11 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPCS2_chr11_74944266_74984033 | 74972720 | CT | C | intron_variant | MODIFIER | HG00609.hp2 HG02976.hp2 HG06807.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0116 a0001c0001t0001g0148 a0001c0001t0001g0157 others(5): Show |
8 | 378 | 0.0212 | -1 | c.494 others(9): Show |
SPCS2 | ENSG00000118363.13 | transcript | ENST00000263672.11 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPCS2_chr11_74944266_74984033 | 74972893 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(98): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0001g0046 others(73): Show |
101 | 378 | 0.2672 | -1 | c.494 others(9): Show |
SPCS2 | ENSG00000118363.13 | transcript | ENST00000263672.11 | protein_coding | 4/4 | chr11 | TogoVar | |||||||
SPCS2_chr11_74944266_74984033 | 74972894 | AT | A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp1 others(126): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(103): Show |
129 | 378 | 0.3413 | -1 | c.494 others(9): Show |
SPCS2 | ENSG00000118363.13 | transcript | ENST00000263672.11 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPCS2_chr11_74944266_74984033 | 74982027 | AG | A | downstream_gene_variant | MODIFIER | HG00544.hp1 HG01069.hp2 HG01074.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(26): Show |
34 | 378 | 0.0900 | -1 | c.*49 others(6): Show |
SPCS2 | ENSG00000118363.13 | transcript | ENST00000263672.11 | protein_coding | 2995 | chr11 | TogoVar | |||||||
SPCS3_chr4_176314966_176337245 | 176315925 | CA | C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(138): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(47): Show |
141 | 470 | 0.3000 | -1 | c.-41 others(6): Show |
SPCS3 | ENSG00000129128.13 | transcript | ENST00000503362.2 | protein_coding | 4040 | chr4 | TogoVar | |||||||
SPCS3_chr4_176314966_176337245 | 176317144 | AT | A | upstream_gene_variant | MODIFIER | HG01433.hp1 HG01891.hp1 HG02486.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0034 | a0001c0001t0001g0004 a0001c0001t0034g0004 |
5 | 470 | 0.0106 | -1 | c.-29 others(6): Show |
SPCS3 | ENSG00000129128.13 | transcript | ENST00000503362.2 | protein_coding | 2821 | chr4 | TogoVar | |||||||
SPCS3_chr4_176314966_176337245 | 176318648 | TC | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(188): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(46): Show |
191 | 470 | 0.4064 | -1 | c.-14 others(6): Show |
SPCS3 | ENSG00000129128.13 | transcript | ENST00000503362.2 | protein_coding | 1317 | chr4 | TogoVar | |||||||
SPCS3_chr4_176314966_176337245 | 176321163 | CT | C | intron_variant | MODIFIER | HG00639.hp2 HG01109.hp2 HG01123.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0024 a0001c0001t0001g0043 a0001c0001t0001g0083 others(12): Show |
25 | 470 | 0.0532 | -1 | c.143 others(8): Show |
SPCS3 | ENSG00000129128.13 | transcript | ENST00000503362.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPCS3_chr4_176314966_176337245 | 176323846 | CT | C | intron_variant | MODIFIER | HG01069.hp1 HG01167.hp1 NA18951.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0002g0018 others(4): Show |
8 | 470 | 0.0170 | -1 | c.218 others(8): Show |
SPCS3 | ENSG00000129128.13 | transcript | ENST00000503362.2 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPCS3_chr4_176314966_176337245 | 176325050 | TA | T | intron_variant | MODIFIER | HG01123.hp1 HG01175.hp1 HG01243.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0006a0001c0002t0030others(1): Show | a0001c0001t0005g0046 a0001c0002t0006g0007 a0001c0002t0006g0039 others(2): Show |
12 | 470 | 0.0255 | -1 | c.294 others(8): Show |
SPCS3 | ENSG00000129128.13 | transcript | ENST00000503362.2 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
SPCS3_chr4_176314966_176337245 | 176325052 | CT | C | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG01070.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0043 a0001c0001t0001g0056 a0001c0001t0002g0040 others(5): Show |
9 | 470 | 0.0192 | -1 | c.294 others(8): Show |
SPCS3 | ENSG00000129128.13 | transcript | ENST00000503362.2 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPCS3_chr4_176314966_176337245 | 176325561 | TA | T | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00673.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0009 a0001c0001t0001g0060 a0001c0001t0001g0064 others(12): Show |
22 | 470 | 0.0468 | -1 | c.294 others(9): Show |
SPCS3 | ENSG00000129128.13 | transcript | ENST00000503362.2 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPCS3_chr4_176314966_176337245 | 176332054 | CT | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(148): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(22): Show | a0001c0001t0003g0003 a0001c0001t0003g0029 a0001c0001t0003g0030 others(49): Show |
151 | 470 | 0.3213 | -1 | c.*37 others(6): Show |
SPCS3 | ENSG00000129128.13 | transcript | ENST00000503362.2 | protein_coding | 5/5 | 3733 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SPCS3_chr4_176314966_176337245 | 176332318 | GT | G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(240): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(30): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0012 others(68): Show |
243 | 470 | 0.5170 | -1 | c.*39 others(6): Show |
SPCS3 | ENSG00000129128.13 | transcript | ENST00000503362.2 | protein_coding | 74 | chr4 | TogoVar | |||||||
SPCS3_chr4_176314966_176337245 | 176335862 | AG | A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00733.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0039 | a0001c0001t0001g0004 a0001c0001t0005g0005 a0001c0001t0005g0045 others(2): Show |
20 | 470 | 0.0426 | -1 | c.*75 others(6): Show |
SPCS3 | ENSG00000129128.13 | transcript | ENST00000503362.2 | protein_coding | 3618 | chr4 | TogoVar |