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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BTBD7_chr14_93232550_93338036 | 93300736 | GTGTGTGT others(31): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG02257.hp1 others(15): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0007a0001c0001t0011a0001c0001t0015others(3): Show | a0001c0001t0007g0255a0001c0001t0007g0256a0001c0001t0007g0264others(15): Show | 18 | 375 | 0.0480 | -38 | c.-10 others(57): Show |
BTBD7 | ENSG00000011114.15 | transcript | ENST00000334746.10 | protein_coding | 1/10 | chr14 | TogoVar | ||||||
BTBD7_chr14_93232550_93338036 | 93300738 | GTGTGTGT others(31): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG02027.hp1 NA18949.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0008a0002c0002t0044 | a0002c0002t0008g0135a0002c0002t0008g0142a0002c0002t0008g0143others(3): Show | 6 | 375 | 0.0160 | -38 | c.-10 others(57): Show |
BTBD7 | ENSG00000011114.15 | transcript | ENST00000334746.10 | protein_coding | 1/10 | chr14 | TogoVar | ||||||
BTBD9_chr6_38163451_38644929 | 38266587 | GGAAAGAA others(31): Show |
G | intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0085 | a0001c0001t0085g0031 | 1 | 224 | 0.0045 | -38 | c.145 others(59): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 8/10 | chr6 | TogoVar | ||||||
BTBD9_chr6_38163451_38644929 | 38465723 | ATATATAT others(31): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02572.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0073a0001c0001t0094a0001c0001t0103others(1): Show | a0001c0001t0073g0015a0001c0001t0094g0053a0001c0001t0103g0014others(1): Show | 4 | 224 | 0.0179 | -38 | c.115 others(61): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23305484 | TAAAAAGA others(31): Show |
T | intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0062 | 1 | 326 | 0.0031 | -38 | c.547 others(55): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 4/15 | chr10 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23323916 | TATATATA others(31): Show |
T | intron_variant | MODIFIER | NA18959.hp2 NA18974.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0253a0001c0003t0003g0258 | 2 | 326 | 0.0061 | -38 | c.328 others(55): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
C13orf46_chr13_113948705_113979076 | 113976169 | CGGGTCCC others(31): Show |
C | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG01891.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0023others(3): Show | a0001c0001t0001g0063a0001c0001t0012g0007a0001c0001t0023g0038others(4): Show | 12 | 414 | 0.0290 | -38 | c.-22 others(49): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 2094 | chr13 | TogoVar | ||||||
C13orf46_chr13_113948705_113979076 | 113976207 | TGGGTCCC others(31): Show |
T | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01978.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0037others(4): Show | a0001c0001t0001g0060a0001c0001t0001g0209a0001c0001t0008g0006others(11): Show | 20 | 414 | 0.0483 | -38 | c.-22 others(49): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 2132 | chr13 | TogoVar | ||||||
C19orf12_chr19_29693937_29720261 | 29696620 | ACCCAGAC others(31): Show |
A | downstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 418 | 0.0024 | -38 | c.*60 others(49): Show |
C19orf12 | ENSG00000131943.20 | transcript | ENST00000323670.14 | protein_coding | 2316 | chr19 | TogoVar | ||||||
C19orf25_chr19_1468201_1484215 | 1482193 | CGGGGCCG others(31): Show |
C | upstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 402 | 0.0025 | -38 | c.-30 others(49): Show |
C19orf25 | ENSG00000119559.17 | transcript | ENST00000585675.6 | protein_coding | 2979 | chr19 | TogoVar | ||||||
C1QTNF1_chr17_79019169_79054788 | 79030459 | TTTTCTTT others(31): Show |
T | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0201 | 1 | 392 | 0.0026 | -38 | c.-15 others(55): Show |
C1QTNF1 | ENSG00000173918.15 | transcript | ENST00000579760.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
C1orf87_chr1_59985394_60078770 | 60064270 | CATATATA others(31): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02976.hp2 HG03195.hp2 others(2): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0002 | a0001c0001t0001g0275a0005c0007t0002g0272a0005c0007t0002g0273others(2): Show | 5 | 382 | 0.0131 | -38 | c.107 others(55): Show |
C1orf87 | ENSG00000162598.13 | transcript | ENST00000371201.3 | protein_coding | 2/11 | chr1 | TogoVar | ||||||
C2CD2_chr21_41880112_41959018 | 41905312 | TTTTTTTT others(31): Show |
T | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG01884.hp2 others(29): Show |
a0001a0002a0003 | a0001c0003a0001c0005a0001c0021others(9): Show | a0001c0003t0001a0001c0003t0005a0001c0003t0035others(16): Show | a0001c0003t0001g0339a0001c0003t0005g0024a0001c0003t0005g0263others(28): Show | 32 | 396 | 0.0808 | -38 | c.143 others(55): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 11/13 | chr21 | TogoVar | ||||||
C2orf16_chr2_27532386_27587722 | 27557879 | CCCCTCCC others(31): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG01255.hp1 HG01981.hp2 others(7): Show |
a0001a0004a0010others(1): Show | a0001c0001a0001c0050a0004c0004others(3): Show | a0001c0001t0001a0001c0050t0001a0004c0004t0001others(3): Show | a0001c0001t0001g0043a0001c0001t0001g0052a0001c0001t0001g0059others(7): Show | 10 | 326 | 0.0307 | -38 | c.145 others(55): Show |
C2orf16 | ENSG00000221843.6 | transcript | ENST00000447166.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C2orf80_chr2_208160347_208195030 | 208176948 | CATATCTG others(31): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02486.hp2 HG02615.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0136a0001c0001t0003g0137a0001c0001t0003g0138others(6): Show | 9 | 342 | 0.0263 | -38 | c.366 others(55): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
C2orf92_chr2_97664713_97708066 | 97701148 | ATTTAGAT others(31): Show |
A | frameshift_variant others(3): Show |
HIGH | HG02895.hp1 | a0009 | a0009c0011 | a0009c0011t0002 | a0009c0011t0002g0172 | 1 | 310 | 0.0032 | -38 | c.515 others(47): Show |
p.Asp others(5): Show |
C2orf92 | ENSG00000228486.11 | transcript | ENST00000627399.4 | protein_coding | 7/8 | 515/798 | 172/265 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
C7orf50_chr7_992006_1143247 | 1098559 | GGTGAGAT others(31): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00621.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0255a0001c0001t0002g0256a0001c0001t0002g0257others(18): Show | 21 | 326 | 0.0644 | -38 | c.129 others(57): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1098635 | AGTGAGAT others(31): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG00738.hp1 others(16): Show |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0005a0001c0001t0006a0001c0001t0017others(2): Show | a0001c0001t0005g0297a0001c0001t0006g0081a0001c0001t0006g0085others(16): Show | 19 | 326 | 0.0583 | -38 | c.129 others(57): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf57_chr7_48030543_48066297 | 48051814 | CTTCTCTT others(31): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00544.hp2 others(44): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0001 | a0001c0002t0001a0001c0004t0001a0002c0001t0001others(1): Show | a0001c0002t0001g0010a0001c0002t0001g0023a0001c0002t0001g0024others(36): Show | 47 | 404 | 0.1163 | -38 | c.606 others(53): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C8orf33_chr8_145047467_145061030 | 145052237 | GCGCCCCG others(31): Show |
G | upstream_gene_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 406 | 0.0025 | -38 | c.-25 others(47): Show |
C8orf33 | ENSG00000182307.14 | transcript | ENST00000331434.7 | protein_coding | 229 | chr8 | TogoVar | ||||||
C8orf76_chr8_123214967_123246377 | 123240213 | CTATCTCA others(31): Show |
C | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0092 | 1 | 230 | 0.0044 | -38 | c.117 others(54): Show |
C8orf76 | ENSG00000189376.12 | transcript | ENST00000276704.6 | protein_coding | 1/5 | chr8 | TogoVar | ||||||
CA10_chr17_51625320_52163714 | 51878829 | CATATATA others(31): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02451.hp1 HG02572.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0069a0001c0001t0001g0111a0001c0001t0001g0153others(3): Show | 6 | 156 | 0.0385 | -38 | c.279 others(57): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 3/8 | chr17 | TogoVar | ||||||
CA13_chr8_85240458_85289073 | 85283441 | ATTTTTTA others(31): Show |
A | 3_prime_UTR_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0071 | 1 | 350 | 0.0029 | -38 | c.*20 others(49): Show |
CA13 | ENSG00000185015.8 | transcript | ENST00000321764.4 | protein_coding | 7/7 | 2093 | chr8 | TogoVar | |||||
CA8_chr8_60180412_60286400 | 60276996 | GTAATCCC others(31): Show |
G | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0168 | 1 | 344 | 0.0029 | -38 | c.292 others(55): Show |
CA8 | ENSG00000178538.10 | transcript | ENST00000317995.5 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
CA8_chr8_60180412_60286400 | 60281333 | GTGTTCCA others(31): Show |
G | 5_prime_UTR_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0002 | a0001c0002t0025 | a0001c0002t0025g0012 | 1 | 344 | 0.0029 | -38 | c.-22 others(47): Show |
CA8 | ENSG00000178538.10 | transcript | ENST00000317995.5 | protein_coding | 1/9 | 187 | chr8 | TogoVar | |||||
CAB39L_chr13_49303650_49449064 | 49318489 | AGGGAAAG others(31): Show |
A | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0101 | 1 | 324 | 0.0031 | -38 | c.835 others(55): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 10/10 | chr13 | TogoVar | ||||||
CABCOCO1_chr10_61657929_61771766 | 61683463 | AAGTGGGA others(31): Show |
A | intron_variant | MODIFIER | HG02809.hp2 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102a0001c0001t0001g0103 | 2 | 374 | 0.0054 | -38 | c.334 others(55): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNA1A_chr19_13201442_13511479 | 13497503 | AAAAAAAA others(31): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0058 | a0001c0058t0004 | a0001c0058t0004g0083 | 1 | 218 | 0.0046 | -38 | c.293 others(55): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13497513 | AAAAAAAA others(31): Show |
A | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0031 | a0001c0031t0013 | a0001c0031t0013g0123 | 1 | 218 | 0.0046 | -38 | c.293 others(55): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13497515 | AAAAAAAA others(31): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0036 | a0036c0052 | a0036c0052t0006 | a0036c0052t0006g0154 | 1 | 218 | 0.0046 | -38 | c.293 others(55): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18358515 | TCTCTCTC others(31): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00738.hp2 HG00741.hp2 others(52): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0001g0034a0001c0001t0001g0079a0001c0001t0001g0127others(52): Show | 55 | 200 | 0.2750 | -38 | c.214 others(57): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18358515 | TCTCTCTC others(31): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00735.hp1 others(69): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(27): Show | a0001c0001t0001g0168a0001c0001t0001g0169a0001c0001t0001g0174others(69): Show | 72 | 302 | 0.2384 | -38 | c.51+ others(55): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNG7_chr19_53904278_53948950 | 53916342 | GGTACCAA others(31): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00597.hp1 others(130): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(125): Show | 133 | 364 | 0.3654 | -38 | c.424 others(53): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CADM2_chr3_84953989_86079429 | 85568413 | TTCTTTCT others(31): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG00738.hp1 HG01069.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0016a0001c0001t0001g0063a0001c0001t0001g0070others(29): Show | 32 | 146 | 0.2192 | -38 | c.62- others(57): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CADPS2_chr7_122313411_122891460 | 122645329 | ATATACAC others(31): Show |
A | intron_variant | MODIFIER | HG03130.hp2 HG03195.hp1 HG03225.hp1 |
a0001a0002 | a0001c0002a0002c0006 | a0001c0002t0004a0002c0006t0001a0002c0006t0002 | a0001c0002t0004g0067a0002c0006t0001g0059a0002c0006t0002g0055 | 3 | 126 | 0.0238 | -38 | c.787 others(57): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 3/29 | chr7 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 71798089 | CAGAGAGA others(31): Show |
C | intron_variant | MODIFIER | HG02132.hp1 HG02896.hp1 NA19002.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0025others(1): Show | a0001c0001t0002g0090a0001c0001t0008g0040a0001c0001t0025g0014others(1): Show | 4 | 142 | 0.0282 | -38 | c.659 others(57): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 6/6 | chr7 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12691366 | TATATATA others(31): Show |
T | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0079 | 1 | 214 | 0.0047 | -38 | c.299 others(57): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12691389 | ATATATAT others(31): Show |
A | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 214 | 0.0047 | -38 | c.299 others(57): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12734339 | AAAAAAAA others(31): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0113a0001c0002t0008g0205 | 2 | 214 | 0.0094 | -38 | c.300 others(57): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CAMK2B_chr7_44212154_44330594 | 44227067 | GTCATGGG others(31): Show |
G | intron_variant | MODIFIER | HG01257.hp1 HG03654.hp1 NA18906.hp1 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0001a0001c0007t0006 | a0001c0002t0001g0009a0001c0002t0001g0144a0001c0007t0006g0157 | 3 | 242 | 0.0124 | -38 | c.146 others(55): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 19/23 | chr7 | TogoVar | ||||||
CAMK2B_chr7_44212154_44330594 | 44227159 | AGGTGCAG others(31): Show |
A | intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0087 | 1 | 242 | 0.0041 | -38 | c.146 others(55): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 19/23 | chr7 | TogoVar | ||||||
CAMK2B_chr7_44212154_44330594 | 44227635 | AGGGTCTG others(31): Show |
A | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0018 | 1 | 242 | 0.0041 | -38 | c.146 others(56): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 19/23 | chr7 | TogoVar | ||||||
CAMK2B_chr7_44212154_44330594 | 44227670 | GAGGGGGT others(31): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG02559.hp2 HG04184.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0005a0001c0001t0014a0002c0005t0004 | a0001c0001t0005g0129a0001c0001t0014g0176a0001c0001t0014g0177others(1): Show | 4 | 242 | 0.0165 | -38 | c.146 others(57): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 19/23 | chr7 | TogoVar | ||||||
CAMKK1_chr17_3855315_3898053 | 3868084 | CGTGGGCT others(31): Show |
C | intron_variant | MODIFIER | NA19062.hp2 | a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0100 | 1 | 446 | 0.0022 | -38 | c.134 others(57): Show |
CAMKK1 | ENSG00000004660.15 | transcript | ENST00000348335.7 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
CAMKK2_chr12_121232692_121301709 | 121294686 | AAATGGGG others(31): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0015 | a0002c0015t0023 | a0002c0015t0023g0329 | 1 | 330 | 0.0030 | -38 | c.-60 others(55): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 1/16 | chr12 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 7310671 | CCTTTCTT others(31): Show |
C | intron_variant | MODIFIER | HG02132.hp2 HG02523.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0040 | 2 | 58 | 0.0345 | -38 | c.438 others(57): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7515016 | TCACCTGG others(31): Show |
T | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0050 | 1 | 58 | 0.0172 | -38 | c.510 others(57): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPN9_chr1_230742388_230806989 | 230751574 | GAAGAAAG others(31): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00733.hp2 HG02717.hp1 others(2): Show |
a0001a0004a0022 | a0001c0002a0001c0005a0004c0032others(1): Show | a0001c0002t0001a0001c0005t0001a0004c0032t0001others(1): Show | a0001c0002t0001g0316a0001c0002t0001g0319a0001c0005t0001g0318others(2): Show | 5 | 394 | 0.0127 | -38 | c.214 others(55): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPN9_chr1_230742388_230806989 | 230751585 | CAAAGAAA others(31): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02258.hp2 HG02486.hp1 others(6): Show |
a0001a0004a0006 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(3): Show | a0001c0001t0001g0274a0001c0003t0001g0386a0001c0003t0001g0387others(6): Show | 9 | 394 | 0.0228 | -38 | c.214 others(55): Show |
CAPN9 | ENSG00000135773.13 | transcript | ENST00000271971.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPZA2_chr7_116857587_116927049 | 116890533 | TATATATA others(31): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00735.hp1 HG01069.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0018a0001c0001t0023others(3): Show | a0001c0001t0002g0104a0001c0001t0002g0105a0001c0001t0002g0128others(19): Show | 22 | 354 | 0.0622 | -38 | c.103 others(55): Show |
CAPZA2 | ENSG00000198898.16 | transcript | ENST00000361183.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |