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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLIC2_chrX_155271211_155339614 | 155277988 | T | TC | frameshift_variant others(1): Show |
HIGH | NA19089.hp1 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0107 | 1 | 258 | 0.0039 | 1 | c.658 others(8): Show |
p.Tyr others(5): Show |
CLIC2 | ENSG00000155962.13 | transcript | ENST00000369449.7 | protein_coding | 6/6 | 845/2623 | 658/744 | 220/247 | chrX | TogoVar | ||
CLIP3_chr19_36009660_36037873 | 36017389 | TCACTTGA others(19): Show |
T | frameshift_variant | HIGH | NA19076.hp2 | a0000 | a0000c0009 | a0000c0009t0002 | a0000c0009t0002g0091 | 1 | 416 | 0.0024 | -26 | c.148 others(35): Show |
p.Val others(5): Show |
CLIP3 | ENSG00000105270.15 | transcript | ENST00000360535.9 | protein_coding | 12/14 | 1720/3350 | 1487/1644 | 496/547 | chr19 | TogoVar | ||
CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(12222): Show |
frameshift_variant others(1): Show |
HIGH | HG00140.hp1 HG02273.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 2 | 444 | 0.0045 | 12229 | c.236 others(12236): Show |
p.Tyr others(4): Show |
CLPSL1 | ENSG00000204140.10 | transcript | ENST00000373861.6 | protein_coding | 3/3 | 329/598 | 237/366 | 79/121 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(24439): Show |
frameshift_variant others(1): Show |
HIGH | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 444 | 0.0023 | 24446 | c.236 others(24453): Show |
p.Tyr others(4): Show |
CLPSL1 | ENSG00000204140.10 | transcript | ENST00000373861.6 | protein_coding | 3/3 | 329/598 | 237/366 | 79/121 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(24436): Show |
frameshift_variant others(1): Show |
HIGH | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 444 | 0.0023 | 24443 | c.236 others(24450): Show |
p.Tyr others(4): Show |
CLPSL1 | ENSG00000204140.10 | transcript | ENST00000373861.6 | protein_coding | 3/3 | 329/598 | 237/366 | 79/121 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(12213): Show |
frameshift_variant others(1): Show |
HIGH | NA19085.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0079 | 1 | 444 | 0.0023 | 12220 | c.236 others(12227): Show |
p.Tyr others(4): Show |
CLPSL1 | ENSG00000204140.10 | transcript | ENST00000373861.6 | protein_coding | 3/3 | 329/598 | 237/366 | 79/121 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(12211): Show |
frameshift_variant others(1): Show |
HIGH | HG02165.hp1 NA18964.hp1 NA18968.hp2 others(2): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0004t0001 | a0002c0002t0001g0015a0002c0004t0001g0015a0002c0004t0001g0078 | 5 | 444 | 0.0113 | 12218 | c.236 others(12225): Show |
p.Tyr others(4): Show |
CLPSL1 | ENSG00000204140.10 | transcript | ENST00000373861.6 | protein_coding | 3/3 | 329/598 | 237/366 | 79/121 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(12210): Show |
frameshift_variant others(1): Show |
HIGH | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 444 | 0.0023 | 12217 | c.236 others(12224): Show |
p.Tyr others(4): Show |
CLPSL1 | ENSG00000204140.10 | transcript | ENST00000373861.6 | protein_coding | 3/3 | 329/598 | 237/366 | 79/121 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(12211): Show |
frameshift_variant others(1): Show |
HIGH | NA18945.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0080 | 1 | 444 | 0.0023 | 12218 | c.236 others(12225): Show |
p.Tyr others(4): Show |
CLPSL1 | ENSG00000204140.10 | transcript | ENST00000373861.6 | protein_coding | 3/3 | 329/598 | 237/366 | 79/121 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(12211): Show |
frameshift_variant others(1): Show |
HIGH | NA18747.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0081 | 1 | 444 | 0.0023 | 12218 | c.236 others(12225): Show |
p.Tyr others(4): Show |
CLPSL1 | ENSG00000204140.10 | transcript | ENST00000373861.6 | protein_coding | 3/3 | 329/598 | 237/366 | 79/121 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(12211): Show |
frameshift_variant others(1): Show |
HIGH | HG01361.hp2 HG02015.hp1 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0086a0002c0004t0001g0088 | 2 | 444 | 0.0045 | 12218 | c.236 others(12225): Show |
p.Tyr others(4): Show |
CLPSL1 | ENSG00000204140.10 | transcript | ENST00000373861.6 | protein_coding | 3/3 | 329/598 | 237/366 | 79/121 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(12211): Show |
frameshift_variant others(1): Show |
HIGH | HG02074.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0089 | 1 | 444 | 0.0023 | 12218 | c.236 others(12225): Show |
p.Tyr others(4): Show |
CLPSL1 | ENSG00000204140.10 | transcript | ENST00000373861.6 | protein_coding | 3/3 | 329/598 | 237/366 | 79/121 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(12210): Show |
frameshift_variant others(1): Show |
HIGH | HG04199.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0082 | 1 | 444 | 0.0023 | 12217 | c.236 others(12224): Show |
p.Tyr others(4): Show |
CLPSL1 | ENSG00000204140.10 | transcript | ENST00000373861.6 | protein_coding | 3/3 | 329/598 | 237/366 | 79/121 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(12211): Show |
frameshift_variant others(1): Show |
HIGH | HG00673.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0090 | 1 | 444 | 0.0023 | 12218 | c.236 others(12225): Show |
p.Tyr others(4): Show |
CLPSL1 | ENSG00000204140.10 | transcript | ENST00000373861.6 | protein_coding | 3/3 | 329/598 | 237/366 | 79/121 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(24426): Show |
frameshift_variant others(1): Show |
HIGH | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 444 | 0.0023 | 24433 | c.236 others(24440): Show |
p.Tyr others(4): Show |
CLPSL1 | ENSG00000204140.10 | transcript | ENST00000373861.6 | protein_coding | 3/3 | 329/598 | 237/366 | 79/121 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(12219): Show |
frameshift_variant others(1): Show |
HIGH | HG02922.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0064 | 1 | 444 | 0.0023 | 12226 | c.236 others(12233): Show |
p.Tyr others(4): Show |
CLPSL1 | ENSG00000204140.10 | transcript | ENST00000373861.6 | protein_coding | 3/3 | 329/598 | 237/366 | 79/121 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(12211): Show |
frameshift_variant others(1): Show |
HIGH | NA18998.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0085 | 1 | 444 | 0.0023 | 12218 | c.236 others(12225): Show |
p.Tyr others(4): Show |
CLPSL1 | ENSG00000204140.10 | transcript | ENST00000373861.6 | protein_coding | 3/3 | 329/598 | 237/366 | 79/121 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
CLPSL1_chr6_35776019_35793150 | 35786783 | A | AAACCTTT others(12205): Show |
frameshift_variant others(1): Show |
HIGH | NA18949.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0092 | 1 | 444 | 0.0023 | 12212 | c.236 others(12219): Show |
p.Tyr others(4): Show |
CLPSL1 | ENSG00000204140.10 | transcript | ENST00000373861.6 | protein_coding | 3/3 | 329/598 | 237/366 | 79/121 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
CLTCL1_chr22_19174473_19296719 | 19183486 | AAGCAGGT others(3): Show |
A | frameshift_variant | HIGH | HG01975.hp1 NA19068.hp1 |
a0012 | a0012c0014 | a0012c0014t0002a0012c0014t0012 | a0012c0014t0002g0242a0012c0014t0012g0338 | 2 | 346 | 0.0058 | -10 | c.472 others(19): Show |
p.Tyr others(6): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 30/33 | 4808/5518 | 4721/4923 | 1574/1640 | chr22 | TogoVar | ||
CLUH_chr17_2684387_2716764 | 2698290 | GGGCCGTG others(19): Show |
G | frameshift_variant | HIGH | NA19082.hp1 | a0018 | a0018c0026 | a0018c0026t0001 | a0018c0026t0001g0063 | 1 | 420 | 0.0024 | -26 | c.154 others(35): Show |
p.Asp others(5): Show |
CLUH | ENSG00000132361.18 | transcript | ENST00000651024.2 | protein_coding | 10/26 | 1669/5357 | 1541/4047 | 514/1348 | chr17 | TogoVar | ||
CLYBL_chr13_99601690_99897570 | 99606717 | AGGGCGGC others(18): Show |
A | frameshift_variant | HIGH | HG02572.hp1 | a0011 | a0011c0007 | a0011c0007t0001 | a0011c0007t0001g0110 | 1 | 218 | 0.0046 | -25 | c.25_ others(30): Show |
p.Ala others(3): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/9 | 31/1181 | 25/1023 | 9/340 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |
CMC4_chrX_155056622_155076136 | 155061884 | CT | C | frameshift_variant | HIGH | NA18963.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0020 | 1 | 292 | 0.0034 | -1 | c.165 others(4): Show |
p.Glu others(4): Show |
CMC4 | ENSG00000182712.16 | transcript | ENST00000369484.8 | protein_coding | 3/3 | 618/881 | 165/207 | 55/68 | chrX | TogoVar | ||
CMKLR2_chr2_206170316_206218371 | 206177196 | CATAGGAA others(13): Show |
C | frameshift_variant | HIGH | HG02257.hp1 | a0010 | a0010c0012 | a0010c0012t0001 | a0010c0012t0001g0013 | 1 | 322 | 0.0031 | -20 | c.32_ others(25): Show |
p.Glu others(4): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2/2 | 144/2025 | 32/1068 | 11/355 | chr2 | TogoVar | ||
CMTM1_chr16_66561439_66584135 | 66566827 | T | TAAATGAG others(9): Show |
frameshift_variant others(1): Show |
HIGH | HG01256.hp2 HG01258.hp1 HG01358.hp1 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0010 | 5 | 398 | 0.0126 | 16 | c.318 others(23): Show |
p.Glu others(5): Show |
CMTM1 | ENSG00000089505.18 | transcript | ENST00000379500.7 | protein_coding | 1/4 | 409/1070 | 334/861 | 112/286 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
CNGA2_chrX_151729746_151750564 | 151738490 | G | GA | frameshift_variant | HIGH | NA19078.hp2 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0001 | 1 | 336 | 0.0030 | 1 | c.13d others(3): Show |
p.Thr others(3): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 2/7 | 238/3285 | 14/1995 | 5/664 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CNGA2_chrX_151729746_151750564 | 151742565 | ACT | A | frameshift_variant | HIGH | HG02615.hp1 | a0012 | a0012c0015 | a0012c0015t0002 | a0012c0015t0002g0114 | 1 | 336 | 0.0030 | -2 | c.513 others(9): Show |
p.Tyr others(5): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 6/7 | 737/3285 | 513/1995 | 171/664 | chrX | TogoVar | ||
CNGA2_chrX_151729746_151750564 | 151743418 | C | CA | frameshift_variant | HIGH | NA18974.hp1 | a0017 | a0017c0013 | a0017c0013t0001 | a0017c0013t0001g0034 | 1 | 336 | 0.0030 | 1 | c.916 others(4): Show |
p.Thr others(5): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 7/7 | 1141/3285 | 917/1995 | 306/664 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CNGA2_chrX_151729746_151750564 | 151743606 | TG | T | frameshift_variant | HIGH | NA18974.hp1 | a0017 | a0017c0013 | a0017c0013t0001 | a0017c0013t0001g0034 | 1 | 336 | 0.0030 | -1 | c.110 others(5): Show |
p.Gly others(5): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 7/7 | 1330/3285 | 1106/1995 | 369/664 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CNGA2_chrX_151729746_151750564 | 151743637 | GA | G | frameshift_variant | HIGH | NA18974.hp1 | a0017 | a0017c0013 | a0017c0013t0001 | a0017c0013t0001g0034 | 1 | 336 | 0.0030 | -1 | c.113 others(5): Show |
p.Asn others(5): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 7/7 | 1360/3285 | 1136/1995 | 379/664 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CNGA2_chrX_151729746_151750564 | 151744086 | AG | A | frameshift_variant | HIGH | NA18974.hp1 | a0017 | a0017c0013 | a0017c0013t0001 | a0017c0013t0001g0034 | 1 | 336 | 0.0030 | -1 | c.158 others(5): Show |
p.Gly others(5): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 7/7 | 1810/3285 | 1586/1995 | 529/664 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CNGA2_chrX_151729746_151750564 | 151744098 | T | TG | frameshift_variant | HIGH | NA18974.hp1 | a0017 | a0017c0013 | a0017c0013t0001 | a0017c0013t0001g0034 | 1 | 336 | 0.0030 | 1 | c.159 others(5): Show |
p.Asn others(5): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 7/7 | 1823/3285 | 1599/1995 | 533/664 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CNGA2_chrX_151729746_151750564 | 151744371 | C | CG | frameshift_variant | HIGH | NA18997.hp1 | a0013 | a0013c0017 | a0013c0017t0004 | a0013c0017t0004g0122 | 1 | 336 | 0.0030 | 1 | c.187 others(5): Show |
p.Ala others(5): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 7/7 | 2098/3285 | 1874/1995 | 625/664 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CNGA2_chrX_151729746_151750564 | 151744371 | CG | C | frameshift_variant | HIGH | NA18974.hp1 | a0017 | a0017c0013 | a0017c0013t0001 | a0017c0013t0001g0034 | 1 | 336 | 0.0030 | -1 | c.187 others(5): Show |
p.Ala others(5): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 7/7 | 2097/3285 | 1873/1995 | 625/664 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
CNGA4_chr11_6234089_6249479 | 6244473 | G | GCTGCAAC others(31): Show |
frameshift_variant | HIGH | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 412 | 0.0024 | 38 | c.168 others(47): Show |
p.Glu others(5): Show |
CNGA4 | ENSG00000132259.13 | transcript | ENST00000379936.3 | protein_coding | 6/6 | 1802/1916 | 1684/1728 | 562/575 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
CNKSR1_chr1_26172491_26194884 | 26185173 | A | AC | frameshift_variant | HIGH | HG00438.hp1 HG00738.hp2 HG01109.hp1 others(10): Show |
a0004a0014a0015 | a0004c0005a0004c0017a0014c0014others(1): Show | a0004c0005t0001a0004c0005t0002a0004c0017t0001others(2): Show | a0004c0005t0001g0001a0004c0005t0001g0002a0004c0005t0001g0004others(9): Show | 13 | 372 | 0.0350 | 1 | c.129 others(5): Show |
p.Arg others(5): Show |
CNKSR1 | ENSG00000142675.18 | transcript | ENST00000361530.11 | protein_coding | 14/21 | 1355/2535 | 1298/2142 | 433/713 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
CNOT1_chr16_58514951_58634826 | 58581514 | T | TTCTAAAA others(4): Show |
frameshift_variant others(1): Show |
HIGH | NA18984.hp2 | a0003 | a0003c0020 | a0003c0020t0001 | a0003c0020t0001g0149 | 1 | 308 | 0.0033 | 11 | c.104 others(23): Show |
p.Asn others(5): Show |
CNOT1 | ENSG00000125107.19 | transcript | ENST00000317147.10 | protein_coding | 11/49 | 1318/8411 | 1045/7131 | 349/2376 | chr16 | TogoVar | ||
COG8_chr16_69321428_69344564 | 69339282 | T | TGAAGGGG others(36): Show |
frameshift_variant | HIGH | NA18998.hp2 | a0008 | a0008c0013 | a0008c0013t0004 | a0008c0013t0004g0151 | 1 | 360 | 0.0028 | 43 | c.270 others(50): Show |
p.Ile others(4): Show |
COG8 | ENSG00000213380.16 | transcript | ENST00000306875.10 | protein_coding | 1/6 | 282/4629 | 270/1839 | 90/612 | chr16 | TogoVar | ||
COL15A1_chr9_98938907_99075787 | 99003558 | A | ACGGAGAA others(46): Show |
frameshift_variant others(1): Show |
HIGH | NA18985.hp2 | a0044 | a0044c0058 | a0044c0058t0002 | a0044c0058t0002g0144 | 1 | 310 | 0.0032 | 53 | c.117 others(62): Show |
p.Asn others(5): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 8/42 | 1334/5223 | 1179/4167 | 393/1388 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
COL18A1_chr21_45400165_45518720 | 45493559 | CCCAGAAA others(49): Show |
C | frameshift_variant others(3): Show |
HIGH | HG04115.hp1 | a0021 | a0021c0086 | a0021c0086t0002 | a0021c0086t0002g0176 | 1 | 292 | 0.0034 | -56 | c.233 others(68): Show |
p.Gln others(5): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 26/42 | 2405/5408 | 2339/4020 | 780/1339 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |
COL19A1_chr6_69861556_70217468 | 69927924 | AGGCCTTC others(3): Show |
A | frameshift_variant | HIGH | HG02145.hp1 | a0011 | a0011c0014 | a0011c0014t0023 | a0011c0014t0023g0110 | 1 | 182 | 0.0055 | -10 | c.283 others(17): Show |
p.Gly others(4): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 5/51 | 400/8740 | 283/3429 | 95/1142 | chr6 | TogoVar | ||
COL1A2_chr7_94389895_94436227 | 94429215 | TCCAAGGA others(6): Show |
T | frameshift_variant | HIGH | NA18997.hp2 | a0009 | a0009c0028 | a0009c0028t0002 | a0009c0028t0002g0207 | 1 | 438 | 0.0023 | -13 | c.374 others(22): Show |
p.Ser others(6): Show |
COL1A2 | ENSG00000164692.19 | transcript | ENST00000297268.11 | protein_coding | 51/52 | 3877/5072 | 3740/4101 | 1247/1366 | chr7 | TogoVar | ||
COL4A2_chr13_110302284_110518209 | 110493115 | GAAATAAC others(27): Show |
G | frameshift_variant others(3): Show |
HIGH | HG03516.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0202 | 1 | 372 | 0.0027 | -34 | c.356 others(46): Show |
p.Gly others(6): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 39/48 | 3563/5139 | 1188/1712 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||
COL4A2_chr13_110302284_110518209 | 110506330 | TAGGTGCA others(34): Show |
T | frameshift_variant others(3): Show |
HIGH | HG03490.hp1 HG03492.hp1 |
a0003 | a0003c0010 | a0003c0010t0004 | a0003c0010t0004g0002 | 2 | 372 | 0.0054 | -41 | c.440 others(53): Show |
p.Ala others(6): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 46/48 | 4403/5139 | 1468/1712 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||
COL4A3_chr2_227159624_227319792 | 227311808 | AAAGCTGG others(24): Show |
A | frameshift_variant | HIGH | NA19083.hp1 | a0022 | a0022c0052 | a0022c0052t0001 | a0022c0052t0001g0325 | 1 | 344 | 0.0029 | -31 | c.495 others(40): Show |
p.Lys others(6): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 52/52 | 5055/8038 | 4952/5013 | 1651/1670 | chr2 | TogoVar | ||
COL4A5_chrX_108434838_108702545 | 108571813 | A | AC | frameshift_variant | HIGH | HG00438.hp1 | a0014 | a0014c0008 | a0014c0008t0001 | a0014c0008t0001g0162 | 1 | 269 | 0.0037 | 1 | c.446 others(4): Show |
p.Gly others(5): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 8/53 | 735/6531 | 447/5076 | 149/1691 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
COL4A5_chrX_108434838_108702545 | 108591095 | TC | T | frameshift_variant | HIGH | NA19075.hp1 | a0006 | a0006c0017 | a0006c0017t0001 | a0006c0017t0001g0102 | 1 | 269 | 0.0037 | -1 | c.120 others(5): Show |
p.Pro others(5): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 20/53 | 1493/6531 | 1205/5076 | 402/1691 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
COL4A5_chrX_108434838_108702545 | 108626317 | A | AG | frameshift_variant | HIGH | NA18949.hp2 | a0013 | a0013c0018 | a0013c0018t0001 | a0013c0018t0001g0111 | 1 | 269 | 0.0037 | 1 | c.321 others(5): Show |
p.Ser others(6): Show |
COL4A5 | ENSG00000188153.14 | transcript | ENST00000328300.11 | protein_coding | 36/53 | 3504/6531 | 3216/5076 | 1072/1691 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
COL4A6_chrX_108150614_108443422 | 108164900 | AG | A | frameshift_variant | HIGH | HG02056.hp1 | a0010 | a0010c0014 | a0010c0014t0002 | a0010c0014t0002g0213 | 1 | 234 | 0.0043 | -1 | c.394 others(5): Show |
p.Leu others(6): Show |
COL4A6 | ENSG00000197565.17 | transcript | ENST00000334504.12 | protein_coding | 39/45 | 4172/6685 | 3946/5073 | 1316/1690 | chrX | TogoVar | ||
COL6A5_chr3_130340672_130489846 | 130471876 | AT | A | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(101): Show |
a0001a0004a0006others(18): Show | a0001c0001a0001c0014a0001c0040others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(98): Show | 104 | 292 | 0.3562 | -1 | c.777 others(5): Show |
p.Leu others(6): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/41 | 8110/8969 | 7772/7845 | 2591/2614 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
COL6A6_chr3_130512177_130682042 | 130635724 | C | CAGGAGAG others(10): Show |
frameshift_variant others(1): Show |
HIGH | NA19086.hp1 | a0036 | a0036c0068 | a0036c0068t0002 | a0036c0068t0002g0079 | 1 | 264 | 0.0038 | 17 | c.505 others(26): Show |
p.Gly others(6): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/37 | 5327/8689 | 5075/6792 | 1692/2263 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |