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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFB_chr6_31941095_31957084 | 31954568 | CTCTCGG | C | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02486.hp1 others(8): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0006 | 11 | 431 | 0.0255 | -6 | c.*25 others(17): Show |
CFB | ENSG00000243649.10 | transcript | ENST00000425368.7 | protein_coding | 2485 | chr6 | TogoVar | |||||||
CFC1_chr2_130587165_130604575 | 130588083 | ATTTTTT | A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01261.hp2 others(24): Show |
a0001a0008 | a0001c0001a0008c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0026 others(4): Show |
27 | 242 | 0.1116 | -6 | c.*47 others(17): Show |
CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 4081 | chr2 | TogoVar | |||||||
CFD_chr19_854664_868641 | 864042 | CCACACA | C | downstream_gene_variant | MODIFIER | HG01168.hp1 HG01884.hp2 HG01891.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0025 a0001c0001t0003g0004 a0001c0001t0003g0014 others(11): Show |
27 | 287 | 0.0941 | -6 | c.*80 others(15): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 402 | chr19 | TogoVar | |||||||
CFHR1_chr1_196814731_196837189 | 196821736 | AGTGAGT | A | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG00621.hp2 others(24): Show |
a0001a0003a0006 | a0001c0002a0003c0005a0003c0006others(1): Show | a0001c0002t0002a0003c0005t0001a0003c0006t0001others(1): Show | a0001c0002t0002g0007 a0001c0002t0002g0015 a0001c0002t0002g0036 others(9): Show |
27 | 275 | 0.0982 | -6 | c.58+ others(21): Show |
CFHR1 | ENSG00000244414.8 | transcript | ENST00000320493.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFHR3_chr1_196769840_196800407 | 196772636 | ACTCTCT | A | upstream_gene_variant | MODIFIER | HG00408.hp2 NA18949.hp2 NA18977.hp1 |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0003 a0002c0001t0002g0069 a0002c0001t0002g0070 |
3 | 261 | 0.0115 | -6 | c.-22 others(17): Show |
CFHR3 | ENSG00000116785.15 | transcript | ENST00000367425.9 | protein_coding | 2203 | chr1 | TogoVar | |||||||
CFHR3_chr1_196769840_196800407 | 196772655 | CTCTCTA | C | upstream_gene_variant | MODIFIER | HG02027.hp1 HG02056.hp1 HG03471.hp1 others(17): Show |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0003 a0002c0001t0002g0004 a0002c0001t0002g0008 others(11): Show |
20 | 261 | 0.0766 | -6 | c.-22 others(17): Show |
CFHR3 | ENSG00000116785.15 | transcript | ENST00000367425.9 | protein_coding | 2184 | chr1 | TogoVar | |||||||
CFHR3_chr1_196769840_196800407 | 196772657 | CTCTATA | C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00558.hp1 others(65): Show |
a0002a0007 | a0002c0001a0007c0008 | a0002c0001t0002a0002c0001t0008a0002c0001t0009others(2): Show | a0002c0001t0002g0003 a0002c0001t0002g0004 a0002c0001t0002g0005 others(36): Show |
68 | 261 | 0.2605 | -6 | c.-22 others(17): Show |
CFHR3 | ENSG00000116785.15 | transcript | ENST00000367425.9 | protein_coding | 2182 | chr1 | TogoVar | |||||||
CFHR3_chr1_196769840_196800407 | 196772659 | CTATATA | C | upstream_gene_variant | MODIFIER | HG00544.hp1 HG01934.hp1 HG01952.hp1 others(13): Show |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0014 | a0002c0001t0002g0003 a0002c0001t0002g0004 a0002c0001t0002g0007 others(4): Show |
16 | 261 | 0.0613 | -6 | c.-22 others(17): Show |
CFHR3 | ENSG00000116785.15 | transcript | ENST00000367425.9 | protein_coding | 2180 | chr1 | TogoVar | |||||||
CFHR3_chr1_196769840_196800407 | 196773687 | TATATAC | T | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG01975.hp1 others(30): Show |
a0001a0002a0007 | a0001c0010a0002c0001a0007c0008 | a0001c0010t0001a0002c0001t0002a0007c0008t0002 | a0001c0010t0001g0106 a0002c0001t0002g0003 a0002c0001t0002g0004 others(18): Show |
33 | 261 | 0.1264 | -6 | c.-11 others(17): Show |
CFHR3 | ENSG00000116785.15 | transcript | ENST00000367425.9 | protein_coding | 1152 | chr1 | TogoVar | |||||||
CFHR4_chr1_196883052_196923633 | 196908607 | ATGAACT | A | intron_variant | MODIFIER | HG03453.hp2 HG03486.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 |
3 | 350 | 0.0086 | -6 | c.799 others(23): Show |
CFHR4 | ENSG00000134365.15 | transcript | ENST00000608469.6 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFHR5_chr1_196972556_197014678 | 196980333 | TATTATC | T | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp2 HG00741.hp2 others(31): Show |
a0001a0004a0009others(1): Show | a0001c0001a0004c0009a0009c0014others(1): Show | a0001c0001t0001a0004c0009t0001a0009c0014t0009others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0015 others(19): Show |
34 | 356 | 0.0955 | -6 | c.59- others(21): Show |
CFHR5 | ENSG00000134389.11 | transcript | ENST00000256785.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFHR5_chr1_196972556_197014678 | 196980591 | CGTGTGT | C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01192.hp1 others(14): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0007a0002c0002others(2): Show | a0001c0001t0003a0001c0007t0003a0002c0002t0001others(2): Show | a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0088 others(12): Show |
17 | 356 | 0.0478 | -6 | c.59- others(21): Show |
CFHR5 | ENSG00000134389.11 | transcript | ENST00000256785.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFHR5_chr1_196972556_197014678 | 196999683 | GTATATA | G | intron_variant | MODIFIER | NA18612.hp1 NA18945.hp2 NA18969.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0003a0002c0002t0004a0002c0005t0004 | a0001c0001t0003g0125 a0002c0002t0004g0025 a0002c0005t0004g0082 others(2): Show |
6 | 356 | 0.0169 | -6 | c.114 others(25): Show |
CFHR5 | ENSG00000134389.11 | transcript | ENST00000256785.5 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFHR5_chr1_196972556_197014678 | 196999722 | TACACAC | T | intron_variant | MODIFIER | HG01346.hp2 HG01981.hp1 HG02165.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 a0001c0001t0001g0200 a0001c0001t0001g0201 others(3): Show |
6 | 356 | 0.0169 | -6 | c.114 others(25): Show |
CFHR5 | ENSG00000134389.11 | transcript | ENST00000256785.5 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196648814 | CAAAAAT | C | upstream_gene_variant | MODIFIER | HG01099.hp1 HG02109.hp2 HG02280.hp2 others(25): Show |
a0001a0005a0006others(2): Show | a0001c0001a0005c0005a0006c0006others(3): Show | a0001c0001t0001a0001c0001t0004a0005c0005t0002others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(25): Show |
28 | 308 | 0.0909 | -6 | c.-33 others(17): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 3228 | chr1 | TogoVar | |||||||
CFH_chr1_196647043_196752504 | 196693955 | GGTGTGT | G | intron_variant | MODIFIER | HG01243.hp1 HG02723.hp1 HG03453.hp2 others(3): Show |
a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0029 a0005c0005t0002g0293 a0005c0005t0002g0297 others(3): Show |
6 | 308 | 0.0195 | -6 | c.133 others(25): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFH_chr1_196647043_196752504 | 196748053 | ATGTGTG | A | downstream_gene_variant | MODIFIER | HG02523.hp2 NA18969.hp2 NA18972.hp1 others(1): Show |
a0011a0013 | a0011c0016a0013c0014 | a0011c0016t0001a0013c0014t0001 | a0011c0016t0001g0030 a0011c0016t0001g0036 a0013c0014t0001g0017 others(1): Show |
4 | 308 | 0.0130 | -6 | c.*74 others(15): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 550 | chr1 | TogoVar | |||||||
CFLAR_chr2_201111164_201181687 | 201165241 | CTTATTA | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp2 others(98): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(47): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(96): Show |
101 | 234 | 0.4316 | -6 | c.*13 others(17): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 10/10 | 1310 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CFTR_chr7_117475025_117673665 | 117490312 | TACACAC | T | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02257.hp1 others(13): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0004t0002others(2): Show | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 others(13): Show |
16 | 202 | 0.0792 | -6 | c.53+ others(23): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CFTR_chr7_117475025_117673665 | 117566248 | AACACAC | A | intron_variant | MODIFIER | HG01074.hp1 HG01192.hp2 HG03139.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0002 | a0001c0001t0002g0063 a0001c0004t0002g0137 a0001c0004t0002g0186 |
3 | 202 | 0.0149 | -6 | c.158 others(25): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CFTR_chr7_117475025_117673665 | 117612017 | ATATATG | A | intron_variant | MODIFIER | HG03041.hp1 HG03209.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0005t0003 | a0001c0001t0004g0182 a0001c0005t0003g0196 |
2 | 202 | 0.0099 | -6 | c.336 others(23): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CGB5_chr19_49038848_49050311 | 49046577 | GTTTTGT | G | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01433.hp1 HG02970.hp1 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0009a0001c0006t0010 | a0001c0006t0009g0014 a0001c0006t0009g0015 a0001c0006t0010g0014 others(1): Show |
4 | 382 | 0.0105 | -6 | c.*12 others(17): Show |
CGB5 | ENSG00000189052.7 | transcript | ENST00000301408.7 | protein_coding | 1267 | chr19 | TogoVar | |||||||
CGB8_chr19_49042638_49054111 | 49046577 | GTTTTGT | G | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01433.hp1 HG02970.hp1 others(1): Show |
a0001 | a0001c0003a0001c0006a0001c0007 | a0001c0003t0008a0001c0003t0009a0001c0006t0008others(1): Show | a0001c0003t0008g0014 a0001c0003t0009g0012 a0001c0006t0008g0013 others(1): Show |
4 | 394 | 0.0102 | -6 | c.*10 others(17): Show |
CGB8 | ENSG00000213030.6 | transcript | ENST00000448456.4 | protein_coding | 1060 | chr19 | TogoVar | |||||||
CGNL1_chr15_57371505_57555717 | 57374538 | TTGTGTG | T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00423.hp2 others(54): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0011others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(27): Show | a0001c0001t0001g0049 a0001c0001t0001g0065 a0001c0001t0001g0071 others(54): Show |
57 | 294 | 0.1939 | -6 | c.-20 others(17): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1966 | chr15 | TogoVar | |||||||
CGNL1_chr15_57371505_57555717 | 57378363 | GTTTTTT | G | intron_variant | MODIFIER | HG00280.hp2 HG00621.hp2 HG00733.hp1 others(44): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0005a0001c0011others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0001g0065 others(44): Show |
47 | 294 | 0.1599 | -6 | c.-16 others(23): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57409037 | TCACACA | T | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp1 HG02818.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0188 a0001c0001t0002g0032 a0001c0001t0002g0033 others(2): Show |
5 | 294 | 0.0170 | -6 | c.-15 others(25): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57437644 | AAAAAAG | A | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG02040.hp2 others(5): Show |
a0003a0005 | a0003c0003a0005c0006 | a0003c0003t0001a0003c0003t0002a0003c0003t0015others(1): Show | a0003c0003t0001g0144 a0003c0003t0001g0179 a0003c0003t0002g0064 others(5): Show |
8 | 294 | 0.0272 | -6 | c.-15 others(21): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | chr15 | TogoVar | |||||||
CGNL1_chr15_57371505_57555717 | 57447805 | CGTGTGT | C | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00438.hp2 others(79): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0011a0002c0002others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(27): Show | a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0001g0071 others(78): Show |
82 | 294 | 0.2789 | -6 | c.180 others(25): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57473899 | CTTTTTT | C | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG01099.hp2 others(8): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0021a0003c0003t0001others(3): Show | a0001c0001t0001g0049 a0001c0001t0001g0080 a0001c0001t0001g0232 others(8): Show |
11 | 294 | 0.0374 | -6 | c.240 others(27): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57475492 | GGTGTGT | G | intron_variant | MODIFIER | HG00140.hp2 HG00621.hp1 HG00642.hp2 others(31): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0002c0002others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0025others(17): Show | a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0082 others(31): Show |
34 | 294 | 0.1157 | -6 | c.240 others(27): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57529559 | AACACAC | A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00423.hp1 others(45): Show |
a0001a0002a0005others(6): Show | a0001c0001a0002c0002a0002c0008others(9): Show | a0001c0001t0001a0002c0002t0003a0002c0002t0018others(12): Show | a0001c0001t0001g0118 a0001c0001t0001g0126 a0002c0002t0003g0031 others(45): Show |
48 | 294 | 0.1633 | -6 | c.320 others(23): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGN_chr1_151506387_151543692 | 151511435 | TGCCCGA | T | 5_prime_UTR_variant | MODIFIER | HG01496.hp1 HG01891.hp1 HG02258.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0008a0001c0001t0024a0003c0003t0008 | a0001c0001t0008g0229 a0001c0001t0008g0243 a0001c0001t0024g0036 others(3): Show |
7 | 382 | 0.0183 | -6 | c.-52 others(13): Show |
CGN | ENSG00000143375.15 | transcript | ENST00000271636.12 | protein_coding | 1/21 | 7037 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CGN_chr1_151506387_151543692 | 151543327 | ATGTGTG | A | downstream_gene_variant | MODIFIER | HG01074.hp2 HG01106.hp1 HG01517.hp1 others(5): Show |
a0001a0003a0014 | a0001c0001a0003c0003a0014c0022 | a0001c0001t0002a0001c0001t0013a0001c0001t0014others(3): Show | a0001c0001t0002g0176 a0001c0001t0002g0244 a0001c0001t0013g0047 others(4): Show |
8 | 382 | 0.0209 | -6 | c.*59 others(17): Show |
CGN | ENSG00000143375.15 | transcript | ENST00000271636.12 | protein_coding | 4636 | chr1 | TogoVar | |||||||
CGREF1_chr2_27095594_27124128 | 27116871 | TTCTCTC | T | intron_variant | MODIFIER | HG00639.hp1 HG01123.hp1 HG01243.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0183 others(11): Show |
14 | 352 | 0.0398 | -6 | c.-12 others(23): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
CHAC1_chr15_40948471_40961512 | 40951595 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG02630.hp1 HG02630.hp2 HG02647.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0032 |
6 | 420 | 0.0143 | -6 | c.-19 others(17): Show |
CHAC1 | ENSG00000128965.13 | transcript | ENST00000617768.5 | protein_coding | 1875 | chr15 | TogoVar | |||||||
CHAC2_chr2_53762804_53780196 | 53772702 | GTGTTTT | G | intron_variant | MODIFIER | HG00408.hp1 HG00621.hp1 HG01070.hp2 others(55): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 others(10): Show |
58 | 426 | 0.1362 | -6 | c.171 others(21): Show |
CHAC2 | ENSG00000143942.5 | transcript | ENST00000295304.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CHADL_chr22_41224513_41245931 | 41242143 | CATATAT | C | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00597.hp1 others(59): Show |
a0001a0002a0009 | a0001c0001a0001c0011a0001c0016others(2): Show | a0001c0001t0001a0001c0011t0001a0001c0016t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(40): Show |
62 | 414 | 0.1498 | -6 | c.-12 others(17): Show |
CHADL | ENSG00000100399.16 | transcript | ENST00000216241.14 | protein_coding | 1213 | chr22 | TogoVar | |||||||
CHAD_chr17_50459496_50473880 | 50461927 | GGTGTGT | G | downstream_gene_variant | MODIFIER | HG01106.hp2 HG01167.hp1 HG01169.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0001c0001t0004a0002c0003t0003others(1): Show | a0001c0001t0003g0039 a0001c0001t0004g0020 a0001c0001t0004g0022 others(2): Show |
10 | 386 | 0.0259 | -6 | c.*31 others(17): Show |
CHAD | ENSG00000136457.10 | transcript | ENST00000508540.6 | protein_coding | 2568 | chr17 | TogoVar | |||||||
CHAF1A_chr19_4397640_4448397 | 4408461 | CTTTTTT | C | intron_variant | MODIFIER | HG00621.hp1 HG00735.hp2 HG01891.hp2 others(19): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0010 a0001c0001t0001g0224 a0001c0001t0001g0239 others(18): Show |
22 | 384 | 0.0573 | -6 | c.104 others(21): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHAF1A_chr19_4397640_4448397 | 4427136 | CTTTTTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00438.hp1 others(92): Show |
a0002a0014a0015others(1): Show | a0002c0002a0002c0023a0014c0016others(2): Show | a0002c0002t0002a0002c0023t0002a0014c0016t0002others(2): Show | a0002c0002t0002g0001 a0002c0002t0002g0003 a0002c0002t0002g0004 others(86): Show |
95 | 384 | 0.2474 | -6 | c.137 others(25): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHAF1B_chr21_36380392_36424015 | 36381107 | CTTCTTT | C | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01243.hp1 others(12): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0011 a0001c0001t0001g0069 a0001c0001t0003g0013 others(12): Show |
15 | 346 | 0.0434 | -6 | c.-44 others(17): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 4284 | chr21 | TogoVar | |||||||
CHAF1B_chr21_36380392_36424015 | 36389759 | ATGTGTG | A | intron_variant | MODIFIER | HG01123.hp1 HG01255.hp1 HG01361.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014 | a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 others(5): Show |
8 | 346 | 0.0231 | -6 | c.260 others(23): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CHAMP1_chr13_114309503_114332322 | 114312753 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG02109.hp1 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0048 a0001c0002t0003g0049 a0001c0002t0003g0148 others(5): Show |
10 | 414 | 0.0242 | -6 | c.-20 others(17): Show |
CHAMP1 | ENSG00000198824.8 | transcript | ENST00000361283.4 | protein_coding | 1749 | chr13 | TogoVar | |||||||
CHAMP1_chr13_114309503_114332322 | 114318881 | TTTTTTA | T | intron_variant | MODIFIER | HG01071.hp1 HG01109.hp1 HG02109.hp1 others(10): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0003t0001 | a0001c0002t0003g0048 a0001c0002t0003g0049 a0001c0002t0003g0148 others(7): Show |
13 | 414 | 0.0314 | -6 | c.-17 others(25): Show |
CHAMP1 | ENSG00000198824.8 | transcript | ENST00000361283.4 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
CHAT_chr10_49609037_49672942 | 49639540 | TACACAC | T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(215): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0005others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0029 others(196): Show |
218 | 418 | 0.5215 | -6 | c.111 others(25): Show |
CHAT | ENSG00000070748.19 | transcript | ENST00000337653.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CHAT_chr10_49609037_49672942 | 49648726 | TACACAC | T | intron_variant | MODIFIER | HG01167.hp2 HG02145.hp1 HG02257.hp2 others(11): Show |
a0001 | a0001c0003a0001c0010a0001c0017others(1): Show | a0001c0003t0003a0001c0010t0003a0001c0010t0008others(3): Show | a0001c0003t0003g0291 a0001c0003t0003g0293 a0001c0010t0003g0044 others(11): Show |
14 | 418 | 0.0335 | -6 | c.138 others(23): Show |
CHAT | ENSG00000070748.19 | transcript | ENST00000337653.7 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132799007 | CTGTGTG | C | intron_variant | MODIFIER | HG00741.hp1 HG01106.hp2 HG01109.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0020 others(9): Show |
12 | 310 | 0.0387 | -6 | c.525 others(23): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 6/7 | chr7 | TogoVar | |||||||
CHCHD3_chr7_132779870_133087090 | 132807606 | AATATAT | A | intron_variant | MODIFIER | HG01496.hp2 HG02027.hp1 HG02109.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0034 others(15): Show |
18 | 310 | 0.0581 | -6 | c.525 others(25): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 6/7 | chr7 | TogoVar | |||||||
CHCHD3_chr7_132779870_133087090 | 132860298 | TAGATAG | T | intron_variant | MODIFIER | HG01106.hp2 HG01516.hp2 NA18944.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0131 |
3 | 310 | 0.0097 | -6 | c.454 others(25): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 5/7 | chr7 | TogoVar | |||||||
CHCHD3_chr7_132779870_133087090 | 132882461 | CTATATA | C | intron_variant | MODIFIER | HG02056.hp2 HG02080.hp1 HG02809.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0116 a0001c0001t0001g0133 others(4): Show |
7 | 310 | 0.0226 | -6 | c.453 others(23): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 5/7 | chr7 | TogoVar |