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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHMP1B_chr18_11846413_11859444 | 11849501 | CAAAAAAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(248): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0001g0000a0001c0001t0003g0000a0001c0001t0005g0000others(13): Show | 251 | 438 | 0.5731 | -8 | c.-20 others(19): Show |
CHMP1B | ENSG00000255112.3 | transcript | ENST00000526991.3 | protein_coding | 1911 | chr18 | TogoVar | ||||||
CHMP4C_chr8_81727448_81764515 | 81736085 | CAATAAAT others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(180): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0013others(122): Show | 183 | 408 | 0.4485 | -8 | c.190 others(25): Show |
CHMP4C | ENSG00000164695.5 | transcript | ENST00000297265.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHMP6_chr17_80986841_81005133 | 80988884 | GGTGTGTG others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01243.hp2 HG01256.hp2 others(9): Show |
a0001a0002 | a0001c0005a0001c0008a0002c0003 | a0001c0005t0003a0001c0008t0003a0002c0003t0006 | a0001c0005t0003g0018a0001c0008t0003g0018a0002c0003t0006g0010others(2): Show | 12 | 438 | 0.0274 | -8 | c.-30 others(19): Show |
CHMP6 | ENSG00000176108.9 | transcript | ENST00000325167.9 | protein_coding | 2956 | chr17 | TogoVar | ||||||
CHMP6_chr17_80986841_81005133 | 81005029 | TTGTGTGT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01256.hp2 HG02071.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0022a0002c0003t0006 | a0001c0001t0002g0011a0001c0001t0022g0092a0002c0003t0006g0010others(2): Show | 11 | 438 | 0.0251 | -8 | c.*58 others(19): Show |
CHMP6 | ENSG00000176108.9 | transcript | ENST00000325167.9 | protein_coding | 4897 | chr17 | TogoVar | ||||||
CHMP7_chr8_23238637_23266999 | 23250620 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG01978.hp2 HG02735.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0296a0001c0001t0002g0297a0001c0001t0003g0115others(3): Show | 6 | 438 | 0.0137 | -8 | c.471 others(25): Show |
CHMP7 | ENSG00000147457.14 | transcript | ENST00000397677.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHM_chrX_85856180_86052558 | 85895136 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG02559.hp1 HG02647.hp1 HG02723.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0116a0001c0001t0006g0220a0001c0001t0006g0221others(2): Show | 5 | 245 | 0.0204 | -8 | c.141 others(25): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 11/14 | chrX | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 85913332 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 HG02895.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0124others(3): Show | 6 | 245 | 0.0245 | -8 | c.116 others(27): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 8/14 | chrX | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 85976875 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01891.hp2 HG02280.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(1): Show | a0001c0001t0001g0213a0001c0001t0001g0214a0001c0001t0001g0215others(6): Show | 9 | 245 | 0.0367 | -8 | c.314 others(25): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 4/14 | chrX | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 86021126 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG01099.hp1 HG02071.hp1 HG03492.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0034a0001c0001t0002g0031a0001c0001t0003g0088others(2): Show | 5 | 245 | 0.0204 | -8 | c.116 others(25): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 2/14 | chrX | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 86041726 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(118): Show |
a0001a0004a0007 | a0001c0001a0001c0003a0004c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0081a0001c0001t0001g0082a0001c0001t0001g0083others(118): Show | 121 | 245 | 0.4939 | -8 | c.49+ others(23): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 1/14 | chrX | TogoVar | ||||||
CHN1_chr2_174793809_175010381 | 174807446 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01255.hp2 HG01361.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0036a0001c0001t0001g0044a0001c0001t0001g0051others(20): Show | 23 | 276 | 0.0833 | -8 | c.110 others(27): Show |
CHN1 | ENSG00000128656.15 | transcript | ENST00000409900.9 | protein_coding | 11/12 | chr2 | TogoVar | ||||||
CHN1_chr2_174793809_175010381 | 174990262 | TGAGAGAG others(1): Show |
T | intron_variant | MODIFIER | HG03225.hp2 HG04115.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195a0001c0001t0001g0207a0001c0001t0001g0255 | 3 | 276 | 0.0109 | -8 | c.19+ others(25): Show |
CHN1 | ENSG00000128656.15 | transcript | ENST00000409900.9 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29195623 | AGAGAGAG others(1): Show |
A | intron_variant | MODIFIER | HG02647.hp2 HG02896.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0010 | a0001c0001t0005g0221a0001c0002t0010g0220 | 2 | 232 | 0.0086 | -8 | c.49+ others(21): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29195629 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0148a0001c0002t0002g0149 | 2 | 232 | 0.0086 | -8 | c.49+ others(21): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29204065 | CTCTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG01952.hp2 HG02109.hp1 HG03486.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0006a0001c0001t0024a0001c0002t0002others(1): Show | a0001c0001t0006g0144a0001c0001t0024g0080a0001c0002t0002g0077others(1): Show | 4 | 232 | 0.0172 | -8 | c.49+ others(23): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29204067 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00642.hp1 others(35): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(17): Show | a0001c0001t0001g0064a0001c0001t0001g0082a0001c0001t0001g0103others(35): Show | 38 | 232 | 0.1638 | -8 | c.49+ others(23): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29211450 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG02976.hp1 HG03486.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0002a0001c0002t0025 | a0001c0001t0006g0001a0001c0002t0002g0150a0001c0002t0025g0024 | 3 | 232 | 0.0129 | -8 | c.49+ others(25): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29301342 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(56): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(17): Show | a0001c0001t0001g0183a0001c0001t0001g0192a0001c0001t0001g0213others(56): Show | 59 | 232 | 0.2543 | -8 | c.50- others(25): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29326129 | ATTGTTTG others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00558.hp1 others(77): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(21): Show | a0001c0001t0001g0012a0001c0001t0001g0026a0001c0001t0001g0034others(77): Show | 80 | 232 | 0.3448 | -8 | c.50- others(25): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29336759 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02109.hp1 HG02622.hp2 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(5): Show | a0001c0001t0001g0103a0001c0001t0006g0001a0001c0001t0006g0153others(6): Show | 9 | 232 | 0.0388 | -8 | c.50- others(25): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29374801 | TTTCCTTC others(1): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG02055.hp1 HG02280.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0009 | a0001c0001t0001a0001c0001t0005a0001c0002t0002others(2): Show | a0001c0001t0001g0064a0001c0001t0001g0166a0001c0001t0005g0133others(3): Show | 6 | 232 | 0.0259 | -8 | c.144 others(25): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29458377 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG01175.hp1 HG02071.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0028others(1): Show | a0001c0001t0001g0082a0001c0001t0006g0039a0001c0001t0028g0050others(1): Show | 4 | 232 | 0.0172 | -8 | c.577 others(27): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29461816 | TTGGATGG others(1): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG00741.hp2 others(18): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0064a0001c0001t0001g0103a0001c0001t0001g0130others(18): Show | 21 | 232 | 0.0905 | -8 | c.577 others(27): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHP1_chr15_41226268_41286887 | 41253423 | GTATTTAT others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00544.hp1 others(77): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0018a0001c0001t0001g0178a0001c0001t0001g0179others(77): Show | 80 | 298 | 0.2685 | -8 | c.141 others(25): Show |
CHP1 | ENSG00000187446.12 | transcript | ENST00000334660.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHP2_chr16_23750026_23763935 | 23750869 | TTTTCTTT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG01123.hp2 others(22): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0013a0002c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(2): Show | 25 | 392 | 0.0638 | -8 | c.-41 others(19): Show |
CHP2 | ENSG00000166869.3 | transcript | ENST00000300113.3 | protein_coding | 4156 | chr16 | TogoVar | ||||||
CHP2_chr16_23750026_23763935 | 23750933 | CTTTCTTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG01071.hp2 HG01346.hp2 HG01361.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002 | 6 | 392 | 0.0153 | -8 | c.-41 others(19): Show |
CHP2 | ENSG00000166869.3 | transcript | ENST00000300113.3 | protein_coding | 4092 | chr16 | TogoVar | ||||||
CHP2_chr16_23750026_23763935 | 23759381 | CTTCTTTC others(1): Show |
C | downstream_gene_variant | MODIFIER | HG01981.hp2 HG02083.hp2 NA18983.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0004 | 5 | 392 | 0.0128 | -8 | c.*17 others(19): Show |
CHP2 | ENSG00000166869.3 | transcript | ENST00000300113.3 | protein_coding | 447 | chr16 | TogoVar | ||||||
CHPF_chr2_219533954_219548809 | 219534764 | GCCATCCA others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00673.hp1 others(41): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0001g0023a0001c0002t0001g0002a0001c0002t0001g0011others(5): Show | 44 | 396 | 0.1111 | -8 | c.*46 others(19): Show |
CHPF | ENSG00000123989.15 | transcript | ENST00000243776.11 | protein_coding | 4189 | chr2 | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110689072 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01358.hp1 HG02698.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010a0001c0001t0019others(1): Show | a0001c0001t0005g0089a0001c0001t0005g0158a0001c0001t0010g0134others(2): Show | 5 | 172 | 0.0291 | -8 | c.779 others(23): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 8/11 | chrX | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110689398 | ATATATAT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003a0001c0002t0004others(2): Show | a0001c0001t0001g0097a0001c0002t0003g0156a0001c0002t0004g0051others(7): Show | 10 | 172 | 0.0581 | -8 | c.779 others(23): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 8/11 | chrX | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110689598 | ATATATAT others(1): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG01261.hp1 HG02027.hp1 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0027a0001c0001t0039 | a0001c0001t0014g0102a0001c0001t0027g0104a0001c0001t0039g0113 | 3 | 172 | 0.0174 | -8 | c.779 others(23): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 8/11 | chrX | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110689656 | CATCTATA others(1): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG03453.hp1 HG03516.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0014a0001c0001t0020others(1): Show | a0001c0001t0012g0131a0001c0001t0014g0102a0001c0001t0020g0167others(2): Show | 5 | 172 | 0.0291 | -8 | c.779 others(23): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 8/11 | chrX | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110689739 | ATATATAT others(1): Show |
A | intron_variant | MODIFIER | NA19005.hp1 NA19079.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0086a0001c0001t0001g0095a0001c0001t0013g0132 | 3 | 172 | 0.0174 | -8 | c.779 others(23): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 8/11 | chrX | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110689933 | ATATATAT others(1): Show |
A | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0131 | 1 | 172 | 0.0058 | -8 | c.779 others(25): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 8/11 | chrX | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110690015 | ATATATCT others(1): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG02572.hp1 others(5): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0008a0001c0002t0012a0001c0002t0022others(2): Show | a0001c0002t0008g0010a0001c0002t0008g0014a0001c0002t0008g0111others(5): Show | 8 | 172 | 0.0465 | -8 | c.779 others(25): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 8/11 | chrX | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110697814 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG01433.hp1 HG01515.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(3): Show | a0001c0001t0001g0027a0001c0001t0001g0086a0001c0001t0001g0095others(11): Show | 14 | 172 | 0.0814 | -8 | c.609 others(25): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 7/11 | chrX | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110756503 | GCAGTTGT others(1): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02922.hp1 HG03486.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0006a0001c0002t0007 | a0001c0002t0003g0022a0001c0002t0003g0171a0001c0002t0006g0021others(1): Show | 4 | 172 | 0.0233 | -8 | c.301 others(25): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 4/11 | chrX | TogoVar | ||||||
CHRDL2_chr11_74691429_74736426 | 74698631 | CTGGATGG others(1): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp1 HG02257.hp1 others(17): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0004others(4): Show | a0001c0002t0001a0001c0002t0003a0001c0003t0001others(8): Show | a0001c0002t0001g0200a0001c0002t0001g0213a0001c0002t0003g0236others(15): Show | 20 | 392 | 0.0510 | -8 | c.112 others(27): Show |
CHRDL2 | ENSG00000054938.17 | transcript | ENST00000376332.8 | protein_coding | 9/10 | chr11 | TogoVar | ||||||
CHRDL2_chr11_74691429_74736426 | 74719381 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG02027.hp2 HG02132.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0007t0001others(1): Show | a0001c0001t0001g0055a0001c0003t0001g0057a0001c0003t0001g0059others(6): Show | 11 | 392 | 0.0281 | -8 | c.83- others(21): Show |
CHRDL2 | ENSG00000054938.17 | transcript | ENST00000376332.8 | protein_coding | 1/10 | chr11 | TogoVar | ||||||
CHRDL2_chr11_74691429_74736426 | 74736207 | TTAAATAA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(133): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(19): Show | a0001c0001t0002g0001a0001c0001t0002g0003a0001c0001t0002g0007others(114): Show | 136 | 392 | 0.3469 | -8 | c.-53 others(19): Show |
CHRDL2 | ENSG00000054938.17 | transcript | ENST00000376332.8 | protein_coding | 4782 | chr11 | TogoVar | ||||||
CHRD_chr3_184375054_184394829 | 184388237 | GTCCATCC others(1): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00621.hp1 others(70): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(7): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(9): Show | a0001c0001t0001g0144a0001c0003t0001g0175a0002c0002t0001g0003others(28): Show | 73 | 428 | 0.1706 | -8 | c.255 others(25): Show |
CHRD | ENSG00000090539.16 | transcript | ENST00000204604.6 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHRD_chr3_184375054_184394829 | 184388277 | ATCCATCC others(1): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02486.hp1 HG02723.hp2 others(5): Show |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0033a0003c0005t0001g0034a0003c0005t0001g0152others(1): Show | 8 | 428 | 0.0187 | -8 | c.255 others(25): Show |
CHRD | ENSG00000090539.16 | transcript | ENST00000204604.6 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHRFAM7A_chr15_30355566_30398540 | 30355896 | CAAAAAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(63): Show |
a0001a0002 | a0001c0001a0001c0007a0001c0018others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(19): Show | a0001c0001t0001g0003a0001c0001t0001g0045a0001c0001t0001g0048others(61): Show | 66 | 133 | 0.4962 | -8 | c.*63 others(19): Show |
CHRFAM7A | ENSG00000166664.15 | transcript | ENST00000299847.7 | protein_coding | 4669 | chr15 | TogoVar | ||||||
CHRFAM7A_chr15_30355566_30398540 | 30365801 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00544.hp2 others(33): Show |
a0001a0002 | a0001c0001a0001c0007a0001c0023others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0045a0001c0001t0001g0049others(32): Show | 36 | 133 | 0.2707 | -8 | c.720 others(25): Show |
CHRFAM7A | ENSG00000166664.15 | transcript | ENST00000299847.7 | protein_coding | 9/9 | chr15 | TogoVar | ||||||
CHRFAM7A_chr15_30355566_30398540 | 30393879 | GTGTGTCT others(1): Show |
G | upstream_gene_variant | MODIFIER | HG02735.hp2 HG03669.hp1 homoSapiens_chm13v2.hp1 |
a0002 | a0002c0010a0002c0026 | a0002c0010t0010a0002c0026t0010 | a0002c0010t0010g0123a0002c0010t0010g0125a0002c0026t0010g0121 | 3 | 133 | 0.0226 | -8 | c.-79 others(17): Show |
CHRFAM7A | ENSG00000166664.15 | transcript | ENST00000299847.7 | protein_coding | 340 | chr15 | TogoVar | ||||||
CHRM1_chr11_62903679_62926363 | 62924668 | CTATATAT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG01081.hp1 HG01361.hp1 HG01361.hp2 others(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0004a0001c0001t0001g0008a0001c0001t0001g0009others(2): Show | 8 | 420 | 0.0191 | -8 | c.-35 others(19): Show |
CHRM1 | ENSG00000168539.4 | transcript | ENST00000306960.4 | protein_coding | 3306 | chr11 | TogoVar | ||||||
CHRM2_chr7_136863652_137025213 | 136867845 | CATATATA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG01081.hp1 HG01167.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0138a0001c0001t0001g0139a0001c0001t0002g0137 | 3 | 320 | 0.0094 | -8 | c.-14 others(19): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 806 | chr7 | TogoVar | ||||||
CHRM2_chr7_136863652_137025213 | 137003473 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01361.hp1 HG02132.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0016a0001c0001t0001g0188a0001c0001t0004g0119others(4): Show | 7 | 320 | 0.0219 | -8 | c.-47 others(27): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHRM2_chr7_136863652_137025213 | 137023734 | TGATAGAT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00597.hp1 HG00597.hp2 others(54): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0013a0001c0001t0001g0016a0001c0001t0001g0043others(54): Show | 57 | 320 | 0.1781 | -8 | c.*74 others(19): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 3522 | chr7 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239383413 | TTCTTTCT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00738.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0002g0059a0001c0001t0002g0107a0001c0001t0003g0066others(16): Show | 19 | 116 | 0.1638 | -8 | c.-43 others(19): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 3154 | chr1 | TogoVar |