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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATG16L1_chr2_233246673_233300669 | 233286621 | C | CATTTTTT others(9): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02615.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0109a0001c0001t0004g0112a0001c0001t0004g0114 | 3 | 354 | 0.0085 | 16 | c.120 others(35): Show |
ATG16L1 | ENSG00000085978.22 | transcript | ENST00000392017.9 | protein_coding | 12/17 | chr2 | TogoVar | ||||||
ATG16L1_chr2_233246673_233300669 | 233288657 | T | TGATCATG others(9): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0216 | 1 | 354 | 0.0028 | 16 | c.120 others(35): Show |
ATG16L1 | ENSG00000085978.22 | transcript | ENST00000392017.9 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATG16L1_chr2_233246673_233300669 | 233289377 | A | ATGTGTGT others(9): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01069.hp1 others(24): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0008 | a0001c0001t0003a0002c0002t0002a0002c0002t0005others(3): Show | a0001c0001t0003g0169a0001c0001t0003g0177a0002c0002t0002g0028others(22): Show | 27 | 354 | 0.0763 | 16 | c.120 others(33): Show |
ATG16L1 | ENSG00000085978.22 | transcript | ENST00000392017.9 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATG16L1_chr2_233246673_233300669 | 233289408 | T | TGTGTGTG others(9): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0183 | 1 | 354 | 0.0028 | 16 | c.120 others(33): Show |
ATG16L1 | ENSG00000085978.22 | transcript | ENST00000392017.9 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATG2A_chr11_64889546_64922209 | 64920943 | C | CTATATAT others(9): Show |
upstream_gene_variant | MODIFIER | HG02602.hp1 NA18961.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0047 | 2 | 372 | 0.0054 | 16 | c.-38 others(27): Show |
ATG2A | ENSG00000110046.14 | transcript | ENST00000377264.8 | protein_coding | 3735 | chr11 | TogoVar | ||||||
ATG2B_chr14_96274195_96368341 | 96295727 | C | CCACACAC others(9): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01099.hp1 HG01106.hp1 others(55): Show |
a0001a0002a0009others(4): Show | a0001c0002a0001c0003a0001c0005others(7): Show | a0001c0002t0001a0001c0002t0026a0001c0002t0052others(18): Show | a0001c0002t0001g0012a0001c0002t0001g0260a0001c0002t0001g0261others(53): Show | 58 | 356 | 0.1629 | 16 | c.514 others(33): Show |
ATG2B | ENSG00000066739.12 | transcript | ENST00000359933.6 | protein_coding | 34/41 | chr14 | TogoVar | ||||||
ATG4A_chrX_108086778_108159671 | 108140939 | T | TATATACA others(9): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 249 | 0.0040 | 16 | c.814 others(33): Show |
ATG4A | ENSG00000101844.18 | transcript | ENST00000372232.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATG4A_chrX_108086778_108159671 | 108148020 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 249 | 0.0040 | 16 | c.815 others(33): Show |
ATG4A | ENSG00000101844.18 | transcript | ENST00000372232.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATG4D_chr19_10538904_10558418 | 10548003 | A | ATTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 406 | 0.0025 | 16 | c.835 others(31): Show |
ATG4D | ENSG00000130734.10 | transcript | ENST00000309469.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11268006 | T | TCTCTCTC others(9): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 HG03927.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0081a0001c0002t0001g0102 | 2 | 292 | 0.0069 | 16 | c.-47 others(27): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 4390 | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11268006 | T | TCTCTCTC others(9): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG03486.hp2 NA18955.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0043 | a0001c0001t0001g0046a0001c0001t0003g0097a0001c0001t0043g0054 | 3 | 292 | 0.0103 | 16 | c.-47 others(27): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 4390 | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11268006 | T | TCTCTCTC others(9): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG03139.hp2 NA18983.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0059a0001c0001t0001g0138a0001c0001t0001g0140others(1): Show | 4 | 292 | 0.0137 | 16 | c.-47 others(27): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 4390 | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11268006 | T | TCTCTCTC others(9): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 HG02083.hp2 HG03710.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0084a0001c0001t0001g0105a0001c0002t0001g0086 | 3 | 292 | 0.0103 | 16 | c.-47 others(27): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 4390 | chr3 | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11284985 | T | TATAGGCG others(9): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0006 | a0006c0009 | a0006c0009t0005 | a0006c0009t0005g0070 | 1 | 292 | 0.0034 | 16 | c.-11 others(33): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11378027 | A | ATTTTTTT others(9): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01978.hp1 HG02015.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0208a0001c0001t0001g0233a0001c0001t0002g0142others(14): Show | 17 | 292 | 0.0582 | 16 | c.187 others(35): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11465088 | A | AGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02723.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0264a0001c0001t0006g0269a0001c0001t0006g0272 | 3 | 292 | 0.0103 | 16 | c.207 others(37): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11475868 | G | GACACACA others(9): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02015.hp2 HG02074.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0055a0001c0001t0001g0140a0001c0001t0001g0199others(12): Show | 15 | 292 | 0.0514 | 16 | c.207 others(37): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11478989 | A | AACACACA others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG01070.hp1 others(4): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0002t0001a0003c0005t0001 | a0001c0001t0001g0041a0001c0001t0001g0081a0001c0002t0001g0023others(4): Show | 7 | 292 | 0.0240 | 16 | c.207 others(37): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11497357 | C | CTATATAT others(9): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02015.hp2 HG03130.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0024 | a0001c0001t0001g0082a0001c0001t0002g0142a0001c0002t0024g0263 | 3 | 292 | 0.0103 | 16 | c.208 others(37): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11497357 | C | CTATATAT others(9): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02615.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0044 | a0001c0001t0003g0256a0001c0001t0003g0261a0001c0001t0044g0262 | 3 | 292 | 0.0103 | 16 | c.208 others(37): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATL1_chr14_50555145_50638045 | 50574935 | G | GTATATAT others(9): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0042 | 1 | 320 | 0.0031 | 16 | c.35- others(33): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ATL1_chr14_50555145_50638045 | 50574935 | G | GTATGTAT others(9): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0049 | 1 | 320 | 0.0031 | 16 | c.35- others(33): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ATL1_chr14_50555145_50638045 | 50574937 | G | GTATATAT others(9): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 320 | 0.0031 | 16 | c.35- others(33): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ATL2_chr2_38288954_38382273 | 38329423 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01981.hp1 HG03540.hp2 HG03654.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0002a0002c0006t0009 | a0001c0001t0002g0053a0001c0001t0002g0065a0001c0001t0002g0066others(2): Show | 5 | 236 | 0.0212 | 16 | c.364 others(35): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38337486 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053 | 1 | 236 | 0.0042 | 16 | c.363 others(33): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ATL2_chr2_38288954_38382273 | 38365170 | C | CACACACA others(9): Show |
intron_variant | MODIFIER | HG02132.hp2 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0037 | a0001c0001t0006g0146a0001c0001t0037g0132 | 2 | 236 | 0.0085 | 16 | c.118 others(35): Show |
ATL2 | ENSG00000119787.14 | transcript | ENST00000378954.9 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
ATMIN_chr16_81030842_81052350 | 81046661 | G | GACACACA others(9): Show |
3_prime_UTR_variant | MODIFIER | HG03453.hp1 NA18978.hp1 NA18993.hp2 others(1): Show |
a0003a0005 | a0003c0004a0005c0008 | a0003c0004t0026a0005c0008t0027 | a0003c0004t0026g0003a0005c0008t0027g0003 | 4 | 392 | 0.0102 | 16 | c.*17 others(27): Show |
ATMIN | ENSG00000166454.10 | transcript | ENST00000299575.5 | protein_coding | 4/4 | 1722 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||
ATM_chr11_108218067_108374102 | 108273331 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02258.hp1 HG02280.hp1 |
a0002 | a0002c0002a0002c0009 | a0002c0002t0003a0002c0009t0003 | a0002c0002t0003g0086a0002c0009t0003g0134a0002c0009t0003g0135 | 3 | 304 | 0.0099 | 16 | c.328 others(33): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 22/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATM_chr11_108218067_108374102 | 108317615 | T | TTATATAT others(9): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0044 | 1 | 304 | 0.0033 | 16 | c.634 others(33): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 43/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATM_chr11_108218067_108374102 | 108317652 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0179 | 1 | 304 | 0.0033 | 16 | c.634 others(33): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 43/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATM_chr11_108218067_108374102 | 108317652 | T | TATACACA others(9): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02976.hp2 |
a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0177a0004c0004t0004g0180 | 2 | 304 | 0.0066 | 16 | c.634 others(33): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 43/62 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATN1_chr12_6922959_6947321 | 6925101 | T | TGTGTGTG others(9): Show |
upstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 414 | 0.0024 | 16 | c.-34 others(27): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 2857 | chr12 | TogoVar | ||||||
ATN1_chr12_6922959_6947321 | 6925117 | C | CGTGTGTG others(9): Show |
upstream_gene_variant | MODIFIER | NA18955.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0013 | 1 | 414 | 0.0024 | 16 | c.-34 others(27): Show |
ATN1 | ENSG00000111676.15 | transcript | ENST00000396684.3 | protein_coding | 2841 | chr12 | TogoVar | ||||||
ATOH1_chr4_93823753_93835964 | 93831405 | C | CCTCTCTC others(9): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG01099.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0010 | a0001c0001t0002g0000a0001c0001t0003g0000a0001c0001t0010g0000 | 20 | 458 | 0.0437 | 16 | c.*14 others(27): Show |
ATOH1 | ENSG00000172238.6 | transcript | ENST00000306011.6 | protein_coding | 442 | chr4 | TogoVar | ||||||
ATOH8_chr2_85748991_85796383 | 85763821 | C | CGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG03492.hp2 HG03654.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0166a0002c0002t0002g0292 | 2 | 378 | 0.0053 | 16 | c.769 others(31): Show |
ATOH8 | ENSG00000168874.13 | transcript | ENST00000306279.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ATOSA_chr15_52576321_52684388 | 52583390 | G | GTCATTCA others(9): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00621.hp2 HG02040.hp2 others(18): Show |
a0001a0008 | a0001c0003a0008c0016 | a0001c0003t0001a0008c0016t0001 | a0001c0003t0001g0007a0001c0003t0001g0128a0001c0003t0001g0130others(17): Show | 21 | 362 | 0.0580 | 16 | c.307 others(35): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 12/12 | chr15 | TogoVar | ||||||
ATOSA_chr15_52576321_52684388 | 52640571 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG03453.hp1 NA18998.hp1 |
a0004 | a0004c0005 | a0004c0005t0001a0004c0005t0012 | a0004c0005t0001g0195a0004c0005t0012g0342 | 2 | 362 | 0.0055 | 16 | c.17- others(33): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 2/12 | chr15 | TogoVar | ||||||
ATOSA_chr15_52576321_52684388 | 52672172 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02717.hp2 HG06807.hp1 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0117a0004c0005t0001g0119a0004c0005t0001g0120 | 3 | 362 | 0.0083 | 16 | c.16+ others(31): Show |
ATOSA | ENSG00000047346.13 | transcript | ENST00000619572.5 | protein_coding | 2/12 | chr15 | TogoVar | ||||||
ATOX1_chr5_151737822_151763631 | 151741496 | G | GCAACCTC others(9): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG02970.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031a0001c0001t0001g0076 | 3 | 378 | 0.0079 | 16 | c.*15 others(27): Show |
ATOX1 | ENSG00000177556.12 | transcript | ENST00000313115.11 | protein_coding | 1325 | chr5 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25779845 | A | AACACACA others(9): Show |
intron_variant | MODIFIER | HG01943.hp2 HG01993.hp1 HG02083.hp1 others(4): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0001a0002c0002t0001a0005c0005t0001others(1): Show | a0001c0001t0001g0015a0001c0001t0001g0138a0002c0002t0001g0011others(4): Show | 7 | 300 | 0.0233 | 16 | c.654 others(33): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25789565 | A | AGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02717.hp1 HG02717.hp2 others(9): Show |
a0001a0002a0007others(6): Show | a0001c0001a0002c0002a0002c0076others(7): Show | a0001c0001t0001a0002c0002t0002a0002c0076t0001others(7): Show | a0001c0001t0001g0060a0001c0001t0001g0066a0001c0001t0001g0208others(9): Show | 12 | 300 | 0.0400 | 16 | c.450 others(33): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25789591 | T | TGTGTGTG others(9): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0299 | 1 | 300 | 0.0033 | 16 | c.450 others(33): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25855541 | A | AACACACA others(9): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0007 | a0007c0083 | a0007c0083t0001 | a0007c0083t0001g0279 | 1 | 300 | 0.0033 | 16 | c.449 others(33): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 1/20 | chr15 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160637021 | C | CATCCATC others(9): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG01074.hp1 others(49): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0017a0001c0001t0001g0052a0001c0001t0001g0060others(49): Show | 52 | 236 | 0.2203 | 16 | c.100 others(33): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 10/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160669918 | T | TAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(139): Show |
a0001a0002a0004others(11): Show | a0001c0001a0001c0002a0001c0005others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0017a0001c0001t0001g0019a0001c0001t0001g0038others(139): Show | 142 | 236 | 0.6017 | 16 | c.675 others(31): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160715688 | C | CTTTATTT others(9): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02280.hp1 HG04199.hp1 others(5): Show |
a0001a0002a0022 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0007a0001c0002t0010others(4): Show | a0001c0001t0001g0019a0001c0001t0001g0122a0001c0002t0007g0167others(5): Show | 8 | 236 | 0.0339 | 16 | c.-20 others(35): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 3/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160822989 | C | CATATATA others(9): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0089 | 1 | 236 | 0.0042 | 16 | c.-57 others(37): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | ||||||
ATP10B_chr5_160558120_160857211 | 160849618 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00621.hp1 others(37): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0008others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0060a0001c0001t0001g0134a0001c0001t0001g0137others(37): Show | 40 | 236 | 0.1695 | 16 | c.-57 others(35): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 1/25 | chr5 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112778834 | G | GCTGGAGT others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(194): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0004others(37): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(102): Show | a0001c0001t0001g0012a0001c0001t0001g0015a0001c0001t0001g0016others(194): Show | 197 | 254 | 0.7756 | 16 | c.40- others(31): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112811161 | A | AACACACA others(9): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01109.hp1 HG01934.hp1 others(2): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0030others(2): Show | a0001c0002t0001a0001c0004t0001a0001c0030t0001others(2): Show | a0001c0002t0001g0032a0001c0004t0001g0017a0001c0030t0001g0103others(2): Show | 5 | 254 | 0.0197 | 16 | c.441 others(31): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |