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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CACNA2D3_chr3_54117552_55079557 | 54969262 | C | CTTT | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp2 NA18522.hp2 others(1): Show |
a0001a0002 | a0001c0007a0001c0035a0001c0043others(1): Show | a0001c0007t0001a0001c0035t0001a0001c0043t0001others(1): Show | a0001c0007t0001g0043a0001c0035t0001g0049a0001c0043t0001g0051others(1): Show | 4 | 118 | 0.0339 | 3 | c.251 others(20): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 28/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 55006696 | A | ATTG | intron_variant | MODIFIER | HG02615.hp1 HG03098.hp2 |
a0001 | a0001c0034a0001c0038 | a0001c0034t0001a0001c0038t0010 | a0001c0034t0001g0086a0001c0038t0010g0059 | 2 | 118 | 0.0170 | 3 | c.276 others(22): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 55046499 | C | CATT | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG01106.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(9): Show | a0001c0001t0001g0016a0001c0001t0001g0037a0001c0001t0001g0080others(16): Show | 19 | 118 | 0.1610 | 3 | c.298 others(24): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 35/37 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 55049859 | A | AGCC | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG01106.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(9): Show | a0001c0001t0001g0016a0001c0001t0001g0080a0001c0001t0001g0097others(15): Show | 18 | 118 | 0.1525 | 3 | c.298 others(24): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 55062267 | A | ACAT | intron_variant | MODIFIER | HG01123.hp2 HG01169.hp2 HG01192.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(18): Show | a0001c0001t0001g0006a0001c0001t0001g0016a0001c0001t0001g0104others(24): Show | 27 | 118 | 0.2288 | 3 | c.298 others(24): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 55062420 | T | TCTA | intron_variant | MODIFIER | HG01123.hp2 HG01169.hp2 HG01192.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(18): Show | a0001c0001t0001g0006a0001c0001t0001g0016a0001c0001t0001g0104others(24): Show | 27 | 118 | 0.2288 | 3 | c.298 others(24): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CACNA2D3_chr3_54117552_55079557 | 55074267 | A | AAAC | 3_prime_UTR_variant | MODIFIER | HG01255.hp2 HG02976.hp1 HG03486.hp1 |
a0001 | a0001c0002a0001c0025a0001c0037 | a0001c0002t0004a0001c0025t0004a0001c0037t0004 | a0001c0002t0004g0001a0001c0025t0004g0106a0001c0037t0004g0019 | 3 | 118 | 0.0254 | 3 | c.*62 others(10): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 38/38 | 65 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
CACNA2D3_chr3_54117552_55079557 | 55074825 | A | ACTT | downstream_gene_variant | MODIFIER | HG01258.hp1 HG02109.hp1 HG02615.hp2 others(2): Show |
a0001 | a0001c0012a0001c0016a0001c0036others(1): Show | a0001c0012t0005a0001c0012t0011a0001c0016t0005others(2): Show | a0001c0012t0005g0027a0001c0012t0011g0036a0001c0016t0005g0116others(2): Show | 5 | 118 | 0.0424 | 3 | c.*61 others(12): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 269 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 55075165 | A | ACTT | downstream_gene_variant | MODIFIER | HG01106.hp1 HG02300.hp1 HG03516.hp1 others(1): Show |
a0001 | a0001c0002a0001c0004a0001c0021 | a0001c0002t0002a0001c0004t0002a0001c0021t0002 | a0001c0002t0002g0066a0001c0002t0002g0091a0001c0004t0002g0008others(1): Show | 4 | 118 | 0.0339 | 3 | c.*95 others(12): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 609 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 55075334 | A | ACTT | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00639.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(10): Show | a0001c0001t0001g0033a0001c0001t0001g0118a0001c0002t0001g0039others(17): Show | 20 | 118 | 0.1695 | 3 | c.*11 others(14): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 778 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 55075452 | T | TTGA | downstream_gene_variant | MODIFIER | HG01169.hp2 HG01934.hp1 HG02109.hp2 others(5): Show |
a0001 | a0001c0002a0001c0007a0001c0010others(3): Show | a0001c0002t0001a0001c0007t0001a0001c0010t0001others(5): Show | a0001c0002t0001g0060a0001c0007t0001g0044a0001c0010t0001g0065others(5): Show | 8 | 118 | 0.0678 | 3 | c.*12 others(14): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 896 | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 55076770 | A | ATTT | downstream_gene_variant | MODIFIER | HG01255.hp2 HG02976.hp1 HG03486.hp1 |
a0001 | a0001c0002a0001c0025a0001c0037 | a0001c0002t0004a0001c0025t0004a0001c0037t0004 | a0001c0002t0004g0001a0001c0025t0004g0106a0001c0037t0004g0019 | 3 | 118 | 0.0254 | 3 | c.*25 others(14): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2214 | chr3 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1790454 | A | ATCT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(125): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0003others(26): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(44): Show | a0001c0001t0002g0032a0001c0001t0002g0037a0001c0001t0002g0048others(125): Show | 128 | 318 | 0.4025 | 3 | c.*32 others(14): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 1508 | chr12 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1792226 | T | TCTC | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(103): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0015others(27): Show | a0001c0001t0002g0032a0001c0001t0002g0037a0001c0001t0002g0048others(103): Show | 106 | 318 | 0.3333 | 3 | c.*14 others(14): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 38/38 | 1428 | chr12 | TogoVar | |||||
CACNA2D4_chr12_1786963_1923652 | 1848762 | A | AATT | intron_variant | MODIFIER | HG01109.hp2 HG01358.hp1 HG01884.hp2 others(8): Show |
a0001a0004 | a0001c0006a0001c0017a0001c0046others(2): Show | a0001c0006t0001a0001c0006t0002a0001c0006t0008others(5): Show | a0001c0006t0001g0071a0001c0006t0001g0219a0001c0006t0001g0302others(8): Show | 11 | 318 | 0.0346 | 3 | c.224 others(22): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 23/37 | chr12 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1851682 | T | TGCG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00733.hp2 others(35): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0006others(12): Show | a0001c0001t0002a0001c0003t0001a0001c0003t0002others(20): Show | a0001c0001t0002g0131a0001c0001t0002g0203a0001c0003t0001g0058others(35): Show | 38 | 318 | 0.1195 | 3 | c.224 others(22): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 23/37 | chr12 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1898373 | T | TCAA | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp2 HG00673.hp1 others(51): Show |
a0001a0007a0015others(1): Show | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0039a0001c0001t0001g0166a0001c0001t0001g0170others(51): Show | 54 | 318 | 0.1698 | 3 | c.781 others(20): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 6/37 | chr12 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1911021 | A | ATTT | intron_variant | MODIFIER | HG00597.hp2 HG01358.hp1 HG02523.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0004others(2): Show | a0001c0001t0002g0232a0001c0002t0001g0136a0001c0002t0001g0231others(3): Show | 6 | 318 | 0.0189 | 3 | c.427 others(20): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 3/37 | chr12 | TogoVar | ||||||
CACNA2D4_chr12_1786963_1923652 | 1916573 | A | AGAG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(299): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0002a0001c0003others(51): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(95): Show | a0001c0001t0001g0039a0001c0001t0001g0078a0001c0001t0001g0081others(299): Show | 302 | 318 | 0.9497 | 3 | c.228 others(20): Show |
CACNA2D4 | ENSG00000151062.15 | transcript | ENST00000382722.10 | protein_coding | 1/37 | chr12 | TogoVar | ||||||
CACNB1_chr17_39168453_39202669 | 39170524 | C | CTTT | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02280.hp2 HG02622.hp1 others(4): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0004a0001c0001t0020a0001c0006t0004 | a0001c0001t0004g0137a0001c0001t0004g0157a0001c0001t0004g0257others(4): Show | 7 | 396 | 0.0177 | 3 | c.*46 others(14): Show |
CACNB1 | ENSG00000067191.17 | transcript | ENST00000394303.8 | protein_coding | 2928 | chr17 | TogoVar | ||||||
CACNB1_chr17_39168453_39202669 | 39170961 | C | CTTT | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02155.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(3): Show | a0001c0001t0001g0011a0001c0001t0004g0038a0001c0001t0004g0114others(10): Show | 14 | 396 | 0.0354 | 3 | c.*42 others(14): Show |
CACNB1 | ENSG00000067191.17 | transcript | ENST00000394303.8 | protein_coding | 2491 | chr17 | TogoVar | ||||||
CACNB1_chr17_39168453_39202669 | 39182324 | C | CAAA | intron_variant | MODIFIER | HG02258.hp2 HG02451.hp2 HG02615.hp1 others(4): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0003a0001c0001t0004a0001c0001t0021others(1): Show | a0001c0001t0003g0146a0001c0001t0003g0268a0001c0001t0003g0269others(4): Show | 7 | 396 | 0.0177 | 3 | c.105 others(22): Show |
CACNB1 | ENSG00000067191.17 | transcript | ENST00000394303.8 | protein_coding | 11/13 | chr17 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18137118 | C | CCTT | upstream_gene_variant | MODIFIER | HG02559.hp2 HG02615.hp1 NA19030.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0006a0001c0001t0036a0002c0003t0013 | a0001c0001t0006g0134a0001c0001t0036g0176a0002c0003t0013g0175 | 3 | 200 | 0.0150 | 3 | c.-36 others(14): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3305 | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18139241 | C | CAAA | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02818.hp2 HG02886.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0021a0001c0001t0039others(1): Show | a0001c0001t0001g0058a0001c0001t0021g0060a0001c0001t0039g0062others(2): Show | 5 | 200 | 0.0250 | 3 | c.-14 others(14): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 1182 | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18149004 | C | CAAA | intron_variant | MODIFIER | HG00741.hp2 HG01167.hp1 HG02523.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0033a0001c0001t0003g0199a0001c0001t0004g0149others(2): Show | 5 | 200 | 0.0250 | 3 | c.121 others(20): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18152709 | C | CAAA | intron_variant | MODIFIER | HG00741.hp2 HG01167.hp1 HG01192.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(11): Show | a0001c0001t0001g0025a0001c0001t0001g0058a0001c0001t0003g0026others(19): Show | 22 | 200 | 0.1100 | 3 | c.213 others(20): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18161629 | C | CTCT | intron_variant | MODIFIER | HG00738.hp1 HG01109.hp1 HG01192.hp1 others(24): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0025a0001c0001t0001g0143others(24): Show | 27 | 200 | 0.1350 | 3 | c.213 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18171521 | G | GAAA | intron_variant | MODIFIER | HG01069.hp1 HG01109.hp1 HG01257.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0023others(5): Show | a0001c0001t0001g0143a0001c0001t0001g0190a0001c0001t0001g0197others(8): Show | 11 | 200 | 0.0550 | 3 | c.213 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18171521 | G | GGAA | intron_variant | MODIFIER | HG01361.hp2 HG01884.hp1 HG01981.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0011others(3): Show | a0001c0001t0003g0136a0001c0001t0004g0167a0001c0001t0011g0029others(4): Show | 7 | 200 | 0.0350 | 3 | c.213 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18224338 | C | CAAA | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(69): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0001g0010a0001c0001t0001g0036a0001c0001t0001g0045others(69): Show | 72 | 200 | 0.3600 | 3 | c.213 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18230843 | C | CTTT | intron_variant | MODIFIER | HG00642.hp2 HG01884.hp2 HG02257.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0008others(6): Show | a0001c0001t0003g0081a0001c0001t0006g0005a0001c0001t0006g0017others(9): Show | 12 | 200 | 0.0600 | 3 | c.213 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18243007 | C | CAAA | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG02451.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(9): Show | a0001c0001t0001g0002a0001c0001t0003g0172a0001c0001t0006g0174others(11): Show | 14 | 200 | 0.0700 | 3 | c.213 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18245084 | A | ATTT | intron_variant | MODIFIER | HG02559.hp1 HG02723.hp1 HG03139.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0003a0001c0001t0008a0001c0001t0016others(2): Show | a0001c0001t0003g0136a0001c0001t0008g0007a0001c0001t0016g0181others(2): Show | 5 | 200 | 0.0250 | 3 | c.213 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18259565 | A | AAAG | intron_variant | MODIFIER | HG00738.hp1 HG02258.hp2 HG02717.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0025a0001c0001t0003g0044a0001c0001t0003g0087others(7): Show | 10 | 200 | 0.0500 | 3 | c.213 others(24): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18289284 | G | GTTT | intron_variant | MODIFIER | HG01358.hp1 HG02145.hp2 HG02148.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0039a0001c0002t0002 | a0001c0001t0003g0080a0001c0001t0003g0115a0001c0001t0003g0173others(3): Show | 6 | 200 | 0.0300 | 3 | c.214 others(24): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18299076 | A | AAAT | intron_variant | MODIFIER | HG00438.hp1 HG00741.hp1 HG01257.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(9): Show | a0001c0001t0001g0032a0001c0001t0001g0096a0001c0001t0001g0099others(17): Show | 20 | 200 | 0.1000 | 3 | c.214 others(24): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18307983 | C | CTTT | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02965.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0049a0001c0001t0003g0026a0001c0001t0006g0023others(3): Show | 6 | 200 | 0.0300 | 3 | c.214 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18315499 | T | TAAA | intron_variant | MODIFIER | HG00438.hp1 HG01167.hp2 HG01169.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0031a0001c0001t0001g0032a0001c0001t0001g0096others(13): Show | 16 | 200 | 0.0800 | 3 | c.214 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18315526 | A | AAAC | intron_variant | MODIFIER | HG00738.hp1 HG01361.hp1 HG01891.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(5): Show | a0001c0001t0001g0049a0001c0001t0003g0044a0001c0001t0003g0193others(6): Show | 9 | 200 | 0.0450 | 3 | c.214 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18315527 | A | AAAC | intron_variant | MODIFIER | HG00738.hp2 HG01074.hp1 HG01169.hp2 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(16): Show | a0001c0001t0003g0095a0001c0001t0004g0161a0001c0001t0008g0007others(25): Show | 28 | 200 | 0.1400 | 3 | c.214 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18347344 | A | ATTT | intron_variant | MODIFIER | HG00609.hp2 HG01257.hp1 HG01358.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0025a0001c0001t0001g0049a0001c0001t0001g0098others(16): Show | 19 | 200 | 0.0950 | 3 | c.214 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18386399 | A | ATTT | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG01069.hp1 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0037a0001c0001t0001g0048a0001c0001t0001g0066others(25): Show | 28 | 200 | 0.1400 | 3 | c.214 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18391925 | C | CAAA | intron_variant | MODIFIER | HG01981.hp1 HG02056.hp2 NA18985.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0029others(1): Show | a0001c0001t0001g0098a0001c0001t0001g0117a0001c0001t0004g0157others(2): Show | 5 | 200 | 0.0250 | 3 | c.214 others(20): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18402391 | G | GAAA | intron_variant | MODIFIER | HG00741.hp2 HG01074.hp2 HG01167.hp1 others(35): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0036a0001c0001t0001g0045a0001c0001t0001g0048others(35): Show | 38 | 200 | 0.1900 | 3 | c.333 others(18): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18433873 | T | TTTG | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02818.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0007a0001c0002t0002a0001c0006t0049 | a0001c0001t0007g0188a0001c0001t0007g0189a0001c0002t0002g0075others(2): Show | 5 | 200 | 0.0250 | 3 | c.333 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18438183 | A | ATTT | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG01069.hp2 others(48): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0001g0002a0001c0001t0001g0048a0001c0001t0001g0049others(48): Show | 51 | 200 | 0.2550 | 3 | c.333 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18455039 | T | TAAA | intron_variant | MODIFIER | HG00438.hp2 HG00642.hp2 HG01069.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0032a0001c0001t0001g0079a0001c0001t0001g0117others(19): Show | 22 | 200 | 0.1100 | 3 | c.334 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18461764 | C | CTTT | intron_variant | MODIFIER | HG01361.hp2 HG01884.hp2 HG02280.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0031a0001c0001t0033others(2): Show | a0001c0001t0003g0136a0001c0001t0031g0056a0001c0001t0033g0130others(3): Show | 6 | 200 | 0.0300 | 3 | c.334 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18135424_18548557 | 18481231 | T | TATA | intron_variant | MODIFIER | HG01169.hp1 HG02280.hp2 NA18522.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0033a0001c0001t0051 | a0001c0001t0001g0031a0001c0001t0001g0171a0001c0001t0033g0130others(1): Show | 4 | 200 | 0.0200 | 3 | c.334 others(22): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | chr10 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18491819 | T | TAAA | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01071.hp1 others(52): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0025others(52): Show | 55 | 200 | 0.2750 | 3 | c.334 others(20): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |