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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHN2_chr7_29189775_29519328 | 29195629 | A | AGAGTGT | intron_variant | MODIFIER | HG00642.hp1 HG00673.hp2 HG01081.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0160a0001c0001t0001g0166a0001c0001t0003g0161others(9): Show | 12 | 232 | 0.0517 | 6 | c.49+ others(19): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29211450 | G | GCACACA | intron_variant | MODIFIER | HG01496.hp2 HG01934.hp1 HG01978.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0005a0001c0001t0008a0001c0002t0004others(3): Show | a0001c0001t0005g0193a0001c0001t0008g0228a0001c0002t0004g0095others(3): Show | 6 | 232 | 0.0259 | 6 | 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 | 29220280 | A | AAGAGAG | intron_variant | MODIFIER | HG00323.hp2 HG00673.hp2 HG00738.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(9): Show | a0001c0001t0001g0009a0001c0001t0001g0012a0001c0001t0003g0231others(13): Show | 16 | 232 | 0.0690 | 6 | 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 | 29238015 | C | CTTTTTT | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01071.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0009a0001c0001t0001g0012a0001c0001t0003g0231others(6): Show | 9 | 232 | 0.0388 | 6 | 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 | 29268283 | A | AACACAC | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01071.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0009a0001c0001t0001g0012a0001c0001t0001g0025others(21): Show | 24 | 232 | 0.1035 | 6 | 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 | 29268293 | C | CACACAT | intron_variant | MODIFIER | HG02145.hp2 HG02280.hp1 HG02723.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0015a0001c0002t0002others(1): Show | a0001c0001t0001g0064a0001c0001t0001g0166a0001c0001t0015g0117others(3): Show | 6 | 232 | 0.0259 | 6 | 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 | 29273343 | G | GTATGTA | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140a0001c0001t0001g0141 | 2 | 232 | 0.0086 | 6 | 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 | 29276166 | C | CAAGACT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(160): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(35): Show | a0001c0001t0001g0005a0001c0001t0001g0015a0001c0001t0001g0026others(160): Show | 163 | 232 | 0.7026 | 6 | c.50- others(23): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29301342 | T | TACACAC | intron_variant | MODIFIER | HG02897.hp2 HG02976.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0011 | a0001c0001t0001g0166a0001c0001t0006g0217a0001c0001t0011g0164 | 3 | 232 | 0.0129 | 6 | c.50- others(23): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29352350 | C | CGTGTGT | intron_variant | MODIFIER | HG00741.hp1 HG01175.hp1 HG02258.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0002others(3): Show | a0001c0001t0001g0188a0001c0001t0006g0001a0001c0001t0006g0039others(4): Show | 7 | 232 | 0.0302 | 6 | c.50- others(21): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29405164 | T | TACACAC | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG01433.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(3): Show | a0001c0001t0001g0025a0001c0001t0001g0184a0001c0001t0003g0194others(8): Show | 11 | 232 | 0.0474 | 6 | c.576 others(23): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29436944 | T | TTAATAA | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp2 HG01192.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(4): Show | a0001c0001t0001g0025a0001c0001t0001g0064a0001c0001t0001g0103others(13): Show | 16 | 232 | 0.0690 | 6 | c.576 others(25): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29456617 | C | CCCACCA | intron_variant | MODIFIER | HG00738.hp2 HG01891.hp2 HG02145.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0012others(3): Show | a0001c0001t0001g0160a0001c0001t0006g0226a0001c0001t0012g0170others(3): Show | 6 | 232 | 0.0259 | 6 | c.577 others(25): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29456630 | C | CCACCAA | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00597.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0003a0001c0001t0005a0001c0002t0004others(2): Show | a0001c0001t0003g0032a0001c0001t0003g0044a0001c0001t0003g0111others(7): Show | 10 | 232 | 0.0431 | 6 | c.577 others(25): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29458378 | C | CACACAT | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00597.hp2 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(6): Show | a0001c0001t0003g0014a0001c0001t0003g0032a0001c0001t0003g0044others(25): Show | 28 | 232 | 0.1207 | 6 | c.577 others(25): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29472272 | T | TACACAC | intron_variant | MODIFIER | HG03491.hp1 HG03710.hp2 NA19080.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0007a0001c0002t0002 | a0001c0001t0005g0159a0001c0001t0007g0212a0001c0002t0002g0189 | 3 | 232 | 0.0129 | 6 | c.577 others(23): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29472297 | A | ACACACG | intron_variant | MODIFIER | HG00438.hp1 HG01981.hp1 HG02071.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0103a0001c0001t0001g0225a0001c0001t0003g0049others(13): Show | 16 | 232 | 0.0690 | 6 | c.577 others(23): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29472301 | A | ACACACG | intron_variant | MODIFIER | HG01109.hp2 HG02896.hp1 HG02897.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002a0001c0002t0002g0077a0001c0002t0002g0148others(1): Show | 4 | 232 | 0.0172 | 6 | c.577 others(23): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29473470 | G | GTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(38): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(12): Show | a0001c0001t0001g0015a0001c0001t0001g0064a0001c0001t0001g0082others(38): Show | 41 | 232 | 0.1767 | 6 | c.577 others(23): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29498758 | C | CTTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG01069.hp1 others(41): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(14): Show | a0001c0001t0001g0015a0001c0001t0001g0025a0001c0001t0001g0026others(41): Show | 44 | 232 | 0.1897 | 6 | c.740 others(23): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHODL_chr21_18239833_18272370 | 18248669 | A | ATAATAT | intron_variant | MODIFIER | HG00741.hp2 HG01243.hp2 HG03130.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0014a0001c0001t0030 | a0001c0001t0013g0048a0001c0001t0014g0304a0001c0001t0014g0305others(1): Show | 5 | 402 | 0.0124 | 6 | c.79+ others(21): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | chr21 | TogoVar | ||||||
CHODL_chr21_18239833_18272370 | 18265310 | C | CACATAT | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp1 HG00639.hp1 others(49): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0102a0001c0001t0002g0005a0001c0001t0002g0013others(30): Show | 52 | 402 | 0.1294 | 6 | c.738 others(21): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CHODL_chr21_18239833_18272370 | 18265310 | C | CATATAT | intron_variant | MODIFIER | HG02486.hp1 HG02723.hp2 HG02922.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0028 | a0001c0001t0007g0023a0001c0001t0007g0049a0001c0001t0007g0050others(2): Show | 6 | 402 | 0.0149 | 6 | c.738 others(21): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CHORDC1_chr11_90195429_90228049 | 90207761 | C | CAAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00597.hp2 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0002g0009a0001c0001t0002g0013a0001c0001t0002g0018others(22): Show | 54 | 412 | 0.1311 | 6 | c.493 others(23): Show |
CHORDC1 | ENSG00000110172.12 | transcript | ENST00000320585.11 | protein_coding | 6/10 | chr11 | TogoVar | ||||||
CHP1_chr15_41226268_41286887 | 41229769 | A | AAACAAC | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp2 others(80): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0178a0001c0001t0001g0179a0001c0001t0001g0181others(80): Show | 83 | 298 | 0.2785 | 6 | c.-16 others(17): Show |
CHP1 | ENSG00000187446.12 | transcript | ENST00000334660.10 | protein_coding | 1498 | chr15 | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110669080 | T | TTATATA | downstream_gene_variant | MODIFIER | HG01928.hp1 HG02040.hp1 HG03017.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(1): Show | a0001c0001t0001g0026a0001c0001t0001g0071a0001c0001t0001g0125others(3): Show | 6 | 172 | 0.0349 | 6 | c.*71 others(17): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 4775 | chrX | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110674457 | C | CCACACA | 3_prime_UTR_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0106 | 1 | 172 | 0.0058 | 6 | c.*17 others(17): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 12/12 | 1773 | chrX | TogoVar | |||||
CHRDL1_chrX_110668856_110800817 | 110674457 | C | CCACATA | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG02615.hp1 HG02622.hp1 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0001a0001c0002t0003g0004a0001c0002t0003g0018others(11): Show | 15 | 172 | 0.0872 | 6 | c.*17 others(17): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 12/12 | 1773 | chrX | TogoVar | |||||
CHRDL1_chrX_110668856_110800817 | 110674459 | A | ACACACC | 3_prime_UTR_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0109 | 1 | 172 | 0.0058 | 6 | c.*17 others(17): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 12/12 | 1771 | chrX | TogoVar | |||||
CHRDL1_chrX_110668856_110800817 | 110675676 | C | CGTGTGT | 3_prime_UTR_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG02615.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0012a0001c0002t0008a0001c0002t0012others(2): Show | a0001c0001t0012g0131a0001c0002t0008g0010a0001c0002t0008g0014others(5): Show | 8 | 172 | 0.0465 | 6 | c.*54 others(15): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 12/12 | 554 | chrX | TogoVar | |||||
CHRDL1_chrX_110668856_110800817 | 110689072 | G | GTATATA | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0045 | 1 | 172 | 0.0058 | 6 | c.779 others(21): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 8/11 | chrX | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110689460 | A | ATATATC | intron_variant | MODIFIER | HG02129.hp1 NA18747.hp1 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0030 | a0001c0001t0005g0070a0001c0001t0005g0148a0001c0001t0030g0065 | 3 | 172 | 0.0174 | 6 | c.779 others(21): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 8/11 | chrX | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110689484 | C | CTATCTA | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0170 | 1 | 172 | 0.0058 | 6 | c.779 others(21): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 8/11 | chrX | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110689500 | C | CTATCTA | intron_variant | MODIFIER | HG00639.hp2 HG02622.hp2 HG02809.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0012a0001c0001t0019others(5): Show | a0001c0001t0001g0103a0001c0001t0001g0154a0001c0001t0012g0131others(7): Show | 10 | 172 | 0.0581 | 6 | c.779 others(21): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 8/11 | chrX | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110689524 | C | CTATATA | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG02897.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0003a0001c0002t0004a0001c0002t0006others(1): Show | a0001c0002t0003g0031a0001c0002t0004g0012a0001c0002t0006g0020others(1): Show | 4 | 172 | 0.0233 | 6 | c.779 others(21): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 8/11 | chrX | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110689765 | A | ATATATC | intron_variant | MODIFIER | HG02809.hp1 HG03041.hp1 HG06807.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004a0001c0002t0021 | a0001c0002t0003g0018a0001c0002t0004g0032a0001c0002t0021g0019 | 3 | 172 | 0.0174 | 6 | c.779 others(21): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 8/11 | chrX | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110697813 | T | TCCACAC | intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0082 | 1 | 172 | 0.0058 | 6 | c.609 others(23): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 7/11 | chrX | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110697814 | C | CCACACA | intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0057 | 1 | 172 | 0.0058 | 6 | c.609 others(23): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 7/11 | chrX | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110744961 | T | TCACACA | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0128 | 1 | 172 | 0.0058 | 6 | c.301 others(25): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 4/11 | chrX | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110747409 | A | AACACAC | intron_variant | MODIFIER | HG02965.hp1 HG03453.hp1 HG03516.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0020a0001c0001t0044a0001c0001t0046others(1): Show | a0001c0001t0020g0167a0001c0001t0020g0168a0001c0001t0044g0166others(2): Show | 5 | 172 | 0.0291 | 6 | c.301 others(25): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 4/11 | chrX | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110770370 | T | TAAATGA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(151): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(45): Show | a0001c0001t0001g0002a0001c0001t0001g0025a0001c0001t0001g0026others(151): Show | 154 | 172 | 0.8954 | 6 | c.95- others(21): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 2/11 | chrX | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110792662 | T | TTTACCA | intron_variant | MODIFIER | NA18983.hp1 NA18985.hp1 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0026 | a0001c0001t0015g0163a0001c0001t0026g0164 | 2 | 172 | 0.0116 | 6 | c.-34 others(21): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 1/11 | chrX | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110792662 | T | TTTACCG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(143): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(42): Show | a0001c0001t0001g0002a0001c0001t0001g0025a0001c0001t0001g0026others(143): Show | 146 | 172 | 0.8488 | 6 | c.-34 others(21): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 1/11 | chrX | TogoVar | ||||||
CHRDL2_chr11_74691429_74736426 | 74695502 | T | TTTATTA | downstream_gene_variant | MODIFIER | HG03704.hp2 NA18975.hp1 NA18983.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016a0001c0002t0001g0127a0001c0002t0001g0158 | 4 | 392 | 0.0102 | 6 | c.*10 others(17): Show |
CHRDL2 | ENSG00000054938.17 | transcript | ENST00000376332.8 | protein_coding | 926 | chr11 | TogoVar | ||||||
CHRDL2_chr11_74691429_74736426 | 74698286 | C | CTGGTCT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(325): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(40): Show | a0001c0001t0001g0015a0001c0001t0001g0042a0001c0001t0001g0080others(293): Show | 328 | 392 | 0.8367 | 6 | c.112 others(23): Show |
CHRDL2 | ENSG00000054938.17 | transcript | ENST00000376332.8 | protein_coding | 9/10 | chr11 | TogoVar | ||||||
CHRDL2_chr11_74691429_74736426 | 74700622 | T | TTTATTA | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(43): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0002a0001c0002t0001a0001c0003t0001others(11): Show | a0001c0001t0002g0007a0001c0001t0002g0250a0001c0001t0002g0268others(38): Show | 46 | 392 | 0.1174 | 6 | c.112 others(25): Show |
CHRDL2 | ENSG00000054938.17 | transcript | ENST00000376332.8 | protein_coding | 9/10 | chr11 | TogoVar | ||||||
CHRDL2_chr11_74691429_74736426 | 74700643 | A | ATTATTT | intron_variant | MODIFIER | HG02155.hp1 HG04228.hp1 NA18941.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0080a0001c0001t0002g0278a0001c0001t0002g0328others(3): Show | 6 | 392 | 0.0153 | 6 | c.112 others(25): Show |
CHRDL2 | ENSG00000054938.17 | transcript | ENST00000376332.8 | protein_coding | 9/10 | chr11 | TogoVar | ||||||
CHRDL2_chr11_74691429_74736426 | 74719381 | T | TACACAC | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(34): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(10): Show | a0001c0001t0001g0166a0001c0001t0002g0246a0001c0001t0002g0313others(33): Show | 37 | 392 | 0.0944 | 6 | c.83- others(19): Show |
CHRDL2 | ENSG00000054938.17 | transcript | ENST00000376332.8 | protein_coding | 1/10 | chr11 | TogoVar | ||||||
CHRDL2_chr11_74691429_74736426 | 74719385 | C | CACACAG | intron_variant | MODIFIER | HG02280.hp2 HG02486.hp1 HG03041.hp2 |
a0001 | a0001c0007a0001c0026 | a0001c0007t0001a0001c0026t0001 | a0001c0007t0001g0104a0001c0007t0001g0105a0001c0026t0001g0103 | 3 | 392 | 0.0077 | 6 | c.83- others(19): Show |
CHRDL2 | ENSG00000054938.17 | transcript | ENST00000376332.8 | protein_coding | 1/10 | chr11 | TogoVar | ||||||
CHRD_chr3_184375054_184394829 | 184380175 | T | TGCCCCG | 5_prime_UTR_variant | MODIFIER | HG02523.hp1 HG03831.hp1 NA18946.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018a0001c0001t0002g0041a0001c0001t0002g0042others(1): Show | 5 | 428 | 0.0117 | 6 | c.-12 others(15): Show |
CHRD | ENSG00000090539.16 | transcript | ENST00000204604.6 | protein_coding | 1/23 | 114 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |