| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CSMD1_chr8_2930361_4999914 | 4486134 | TATACATA others(1): Show |
T | intron_variant | MODIFIER | HG03195.hp1 HG03516.hp2 |
a0002a0017 | a0002c0054a0017c0106 | a0002c0054t0079a0017c0106t0012 | a0002c0054t0079g0096a0017c0106t0012g0042 | 2 | 126 | 0.0159 | -8 | c.303 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4565749 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01071.hp2 HG01243.hp2 others(8): Show |
a0001a0002a0035 | a0001c0003a0001c0007a0001c0040others(7): Show | a0001c0003t0013a0001c0003t0019a0001c0007t0032others(8): Show | a0001c0003t0013g0026a0001c0003t0019g0107a0001c0007t0032g0033others(8): Show | 11 | 126 | 0.0873 | -8 | c.302 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4630265 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | NA18979.hp1 NA18979.hp2 NA18984.hp2 others(1): Show |
a0001a0002 | a0001c0003a0001c0007a0001c0080others(1): Show | a0001c0003t0013a0001c0007t0001a0001c0080t0040others(1): Show | a0001c0003t0013g0026a0001c0007t0001g0035a0001c0080t0040g0025others(1): Show | 4 | 126 | 0.0318 | -8 | c.302 others(25): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4682955 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG02074.hp1 HG02886.hp2 HG03017.hp2 others(4): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0079a0002c0032others(4): Show | a0001c0001t0002a0001c0079t0072a0002c0032t0050others(4): Show | a0001c0001t0002g0102a0001c0079t0072g0113a0002c0032t0050g0061others(4): Show | 7 | 126 | 0.0556 | -8 | c.86- others(25): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4698903 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp1 HG02572.hp1 others(6): Show |
a0001a0003a0006others(4): Show | a0001c0019a0001c0111a0003c0014others(6): Show | a0001c0019t0078a0001c0111t0045a0003c0014t0055others(6): Show | a0001c0019t0078g0105a0001c0111t0045g0063a0003c0014t0055g0056others(6): Show | 9 | 126 | 0.0714 | -8 | c.86- others(25): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4717390 | CATACATA others(1): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01123.hp1 HG01884.hp1 others(32): Show |
a0001a0002a0006others(12): Show | a0001c0001a0001c0002a0001c0003others(31): Show | a0001c0001t0002a0001c0002t0028a0001c0003t0013others(32): Show | a0001c0001t0002g0102a0001c0002t0028g0005a0001c0003t0013g0026others(32): Show | 35 | 126 | 0.2778 | -8 | c.86- others(25): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4717578 | CCATCCAT others(1): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG03130.hp2 |
a0001a0018 | a0001c0073a0018c0044 | a0001c0073t0007a0018c0044t0064 | a0001c0073t0007g0108a0018c0044t0064g0085 | 2 | 126 | 0.0159 | -8 | c.86- others(25): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4742000 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG02486.hp1 HG02647.hp2 others(6): Show |
a0001a0002a0018others(2): Show | a0001c0005a0001c0006a0001c0021others(6): Show | a0001c0005t0007a0001c0006t0060a0001c0021t0005others(6): Show | a0001c0005t0007g0070a0001c0006t0060g0103a0001c0021t0005g0012others(6): Show | 9 | 126 | 0.0714 | -8 | c.86- others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4753403 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02622.hp2 HG02683.hp2 others(5): Show |
a0002a0003a0005others(3): Show | a0002c0037a0002c0074a0002c0076others(5): Show | a0002c0037t0009a0002c0074t0041a0002c0076t0035others(5): Show | a0002c0037t0009g0046a0002c0074t0041g0031a0002c0076t0035g0014others(5): Show | 8 | 126 | 0.0635 | -8 | c.86- others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4761836 | CATCTATC others(1): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG02615.hp1 HG02683.hp1 others(2): Show |
a0001a0004a0017others(1): Show | a0001c0021a0001c0085a0004c0056others(2): Show | a0001c0021t0005a0001c0085t0020a0004c0056t0062others(2): Show | a0001c0021t0005g0012a0001c0085t0020g0060a0004c0056t0062g0072others(2): Show | 5 | 126 | 0.0397 | -8 | c.86- others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4761882 | TCTATCTA others(1): Show |
T | intron_variant | MODIFIER | HG02451.hp2 NA19090.hp2 |
a0002a0029 | a0002c0092a0029c0028 | a0002c0092t0001a0029c0028t0024 | a0002c0092t0001g0011a0029c0028t0024g0040 | 2 | 126 | 0.0159 | -8 | c.86- others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4761890 | CCTACCTA others(1): Show |
C | intron_variant | MODIFIER | HG02622.hp1 HG03579.hp1 |
a0002a0006 | a0002c0030a0006c0116 | a0002c0030t0016a0006c0116t0004 | a0002c0030t0016g0122a0006c0116t0004g0039 | 2 | 126 | 0.0159 | -8 | c.86- others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4761904 | TATCTATC others(1): Show |
T | intron_variant | MODIFIER | HG02615.hp2 HG03195.hp2 |
a0001a0013 | a0001c0004a0013c0027 | a0001c0004t0063a0013c0027t0003 | a0001c0004t0063g0095a0013c0027t0003g0099 | 2 | 126 | 0.0159 | -8 | c.86- others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4795252 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01071.hp2 HG01934.hp1 others(13): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0039a0001c0002t0028a0001c0002t0061others(13): Show | a0001c0001t0039g0017a0001c0002t0028g0005a0001c0002t0061g0069others(13): Show | 16 | 126 | 0.1270 | -8 | c.86- others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4881411 | ATATCTAT others(1): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG02257.hp1 HG02280.hp1 |
a0002a0007a0032 | a0002c0053a0007c0088a0032c0011 | a0002c0053t0022a0007c0088t0076a0032c0011t0065 | a0002c0053t0022g0041a0007c0088t0076g0057a0032c0011t0065g0101 | 3 | 126 | 0.0238 | -8 | c.85+ others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4903009 | TAATAAAT others(1): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02965.hp1 HG03017.hp1 others(1): Show |
a0001a0003a0013others(1): Show | a0001c0002a0003c0034a0013c0027others(1): Show | a0001c0002t0061a0003c0034t0030a0013c0027t0003others(1): Show | a0001c0002t0061g0069a0003c0034t0030g0038a0013c0027t0003g0099others(1): Show | 4 | 126 | 0.0318 | -8 | c.85+ others(25): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4905827 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02451.hp1 HG02486.hp2 others(2): Show |
a0001a0002a0010 | a0001c0046a0002c0051a0002c0070others(2): Show | a0001c0046t0073a0002c0051t0006a0002c0070t0046others(2): Show | a0001c0046t0073g0091a0002c0051t0006g0081a0002c0070t0046g0092others(2): Show | 5 | 126 | 0.0397 | -8 | c.85+ others(25): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
| CSMD2_chr1_33508998_34170230 | 33557617 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02809.hp1 |
a0022a0023 | a0022c0019a0023c0017 | a0022c0019t0011a0023c0017t0016 | a0022c0019t0011g0017a0023c0017t0016g0066 | 2 | 66 | 0.0303 | -8 | c.874 others(25): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 55/70 | chr1 | TogoVar | ||||||
| CSMD2_chr1_33508998_34170230 | 33643889 | TGAAGGAA others(1): Show |
T | intron_variant | MODIFIER | HG02922.hp1 NA19030.hp1 NA20300.hp2 |
a0001a0002a0024 | a0001c0026a0002c0002a0024c0014 | a0001c0026t0003a0002c0002t0010a0024c0014t0002 | a0001c0026t0003g0035a0002c0002t0010g0016a0024c0014t0002g0059 | 3 | 66 | 0.0455 | -8 | c.477 others(27): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 29/70 | chr1 | TogoVar | ||||||
| CSMD2_chr1_33508998_34170230 | 33707689 | GCGCGCGC others(1): Show |
G | intron_variant | MODIFIER | HG02723.hp1 HG03017.hp2 NA19030.hp2 |
a0003a0016a0028 | a0003c0003a0016c0033a0028c0010 | a0003c0003t0002a0016c0033t0012a0028c0010t0017 | a0003c0003t0002g0009a0016c0033t0012g0028a0028c0010t0017g0064 | 3 | 66 | 0.0455 | -8 | c.357 others(27): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 22/70 | chr1 | TogoVar | ||||||
| CSMD2_chr1_33508998_34170230 | 33768536 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01243.hp2 others(12): Show |
a0003a0004a0008others(7): Show | a0003c0003a0003c0004a0003c0035others(10): Show | a0003c0003t0002a0003c0003t0005a0003c0004t0003others(11): Show | a0003c0003t0002g0009a0003c0003t0005g0029a0003c0004t0003g0053others(12): Show | 15 | 66 | 0.2273 | -8 | c.184 others(27): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 13/70 | chr1 | TogoVar | ||||||
| CSMD2_chr1_33508998_34170230 | 33783431 | TTCTCTCT others(1): Show |
T | intron_variant | MODIFIER | HG00673.hp1 HG01071.hp1 HG01074.hp2 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0040a0002c0002others(4): Show | a0001c0001t0001a0001c0040t0001a0002c0002t0005others(4): Show | a0001c0001t0001g0033a0001c0001t0001g0062a0001c0040t0001g0010others(5): Show | 8 | 66 | 0.1212 | -8 | c.166 others(27): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 12/70 | chr1 | TogoVar | ||||||
| CSMD2_chr1_33508998_34170230 | 33790661 | GTCTATCT others(1): Show |
G | intron_variant | MODIFIER | HG01978.hp1 NA18906.hp2 NA18998.hp1 others(1): Show |
a0001a0005a0010others(1): Show | a0001c0046a0005c0015a0010c0056others(1): Show | a0001c0046t0002a0005c0015t0001a0010c0056t0001others(1): Show | a0001c0046t0002g0050a0005c0015t0001g0021a0010c0056t0001g0047others(1): Show | 4 | 66 | 0.0606 | -8 | c.155 others(27): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 11/70 | chr1 | TogoVar | ||||||
| CSMD2_chr1_33508998_34170230 | 33790801 | ATATCTAT others(1): Show |
A | intron_variant | MODIFIER | HG01071.hp1 HG01109.hp2 HG06807.hp2 others(2): Show |
a0001a0005a0025 | a0001c0001a0005c0015a0025c0011 | a0001c0001t0001a0001c0001t0005a0005c0015t0001others(1): Show | a0001c0001t0001g0033a0001c0001t0001g0062a0001c0001t0005g0055others(2): Show | 5 | 66 | 0.0758 | -8 | c.155 others(27): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 11/70 | chr1 | TogoVar | ||||||
| CSMD2_chr1_33508998_34170230 | 33862343 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG02717.hp2 others(6): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0027others(5): Show | a0001c0001t0001a0002c0002t0010a0002c0027t0003others(5): Show | a0001c0001t0001g0033a0002c0002t0010g0016a0002c0027t0003g0045others(6): Show | 9 | 66 | 0.1364 | -8 | c.921 others(27): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 5/70 | chr1 | TogoVar | ||||||
| CSMD2_chr1_33508998_34170230 | 33943925 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG02055.hp1 |
a0002a0004 | a0002c0005a0004c0032 | a0002c0005t0003a0004c0032t0001 | a0002c0005t0003g0056a0004c0032t0001g0022 | 2 | 66 | 0.0303 | -8 | c.518 others(25): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 3/70 | chr1 | TogoVar | ||||||
| CSMD2_chr1_33508998_34170230 | 33950383 | CAGAGAGA others(1): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG02080.hp2 others(3): Show |
a0005a0006a0009others(3): Show | a0005c0012a0006c0013a0009c0055others(3): Show | a0005c0012t0001a0006c0013t0003a0009c0055t0001others(3): Show | a0005c0012t0001g0003a0006c0013t0003g0058a0009c0055t0001g0049others(3): Show | 6 | 66 | 0.0909 | -8 | c.518 others(27): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 3/70 | chr1 | TogoVar | ||||||
| CSMD2_chr1_33508998_34170230 | 33957929 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG02965.hp1 NA18906.hp2 NA19043.hp2 |
a0005a0015 | a0005c0012a0005c0015a0015c0053 | a0005c0012t0001a0005c0015t0001a0015c0053t0002 | a0005c0012t0001g0003a0005c0015t0001g0021a0015c0053t0002g0024 | 3 | 66 | 0.0455 | -8 | c.518 others(27): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 3/70 | chr1 | TogoVar | ||||||
| CSMD2_chr1_33508998_34170230 | 33984860 | AAGGCAGG others(1): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG02723.hp1 others(9): Show |
a0001a0003a0005others(6): Show | a0001c0026a0003c0004a0003c0035others(8): Show | a0001c0026t0003a0003c0004t0003a0003c0035t0006others(8): Show | a0001c0026t0003g0035a0003c0004t0003g0053a0003c0004t0003g0054others(9): Show | 12 | 66 | 0.1818 | -8 | c.517 others(27): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 3/70 | chr1 | TogoVar | ||||||
| CSMD2_chr1_33508998_34170230 | 34016797 | TAGATAGA others(1): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 |
a0001a0011 | a0001c0047a0011c0039 | a0001c0047t0001a0011c0039t0014 | a0001c0047t0001g0031a0011c0039t0014g0014 | 2 | 66 | 0.0303 | -8 | c.517 others(27): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 3/70 | chr1 | TogoVar | ||||||
| CSMD2_chr1_33508998_34170230 | 34051645 | ACACCATT others(1): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG03225.hp1 |
a0001a0008 | a0001c0044a0008c0021 | a0001c0044t0002a0008c0021t0004 | a0001c0044t0002g0026a0008c0021t0004g0023 | 2 | 66 | 0.0303 | -8 | c.405 others(27): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 2/70 | chr1 | TogoVar | ||||||
| CSMD2_chr1_33508998_34170230 | 34071022 | AAAATAAT others(1): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02886.hp1 HG02965.hp2 others(1): Show |
a0001a0005a0018others(1): Show | a0001c0045a0005c0020a0018c0029others(1): Show | a0001c0045t0013a0005c0020t0006a0018c0029t0007others(1): Show | a0001c0045t0013g0027a0005c0020t0006g0046a0018c0029t0007g0025others(1): Show | 4 | 66 | 0.0606 | -8 | c.404 others(27): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 2/70 | chr1 | TogoVar | ||||||
| CSMD2_chr1_33508998_34170230 | 34111982 | TTCTCTCT others(1): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02965.hp1 |
a0015a0022 | a0015c0053a0022c0019 | a0015c0053t0002a0022c0019t0011 | a0015c0053t0002g0024a0022c0019t0011g0017 | 2 | 66 | 0.0303 | -8 | c.188 others(27): Show |
CSMD2 | ENSG00000121904.19 | transcript | ENST00000373381.9 | protein_coding | 1/70 | chr1 | TogoVar | ||||||
| CSMD3_chr8_112217928_113441939 | 112252679 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02258.hp1 others(15): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0021a0001c0023others(10): Show | a0001c0001t0004a0001c0021t0004a0001c0023t0001others(10): Show | a0001c0001t0004g0007a0001c0001t0004g0042a0001c0001t0004g0058others(15): Show | 18 | 80 | 0.2250 | -8 | c.101 others(29): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 63/70 | chr8 | TogoVar | ||||||
| CSMD3_chr8_112217928_113441939 | 112270343 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00741.hp2 HG01074.hp2 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0024a0002c0003others(4): Show | a0001c0001t0002a0001c0024t0002a0002c0003t0002others(6): Show | a0001c0001t0002g0022a0001c0001t0002g0068a0001c0024t0002g0024others(8): Show | 11 | 80 | 0.1375 | -8 | c.950 others(27): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 59/70 | chr8 | TogoVar | ||||||
| CSMD3_chr8_112217928_113441939 | 112342979 | ATATATAT others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00741.hp2 HG01074.hp2 others(8): Show |
a0001a0002a0015others(1): Show | a0001c0001a0001c0024a0002c0003others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0024t0002others(5): Show | a0001c0001t0002g0014a0001c0001t0002g0022a0001c0001t0002g0025others(8): Show | 11 | 80 | 0.1375 | -8 | c.644 others(27): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 41/70 | chr8 | TogoVar | ||||||
| CSMD3_chr8_112217928_113441939 | 112361572 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG02258.hp2 NA19030.hp1 NA20300.hp2 |
a0001 | a0001c0001a0001c0019a0001c0023 | a0001c0001t0004a0001c0019t0005a0001c0023t0001 | a0001c0001t0004g0015a0001c0019t0005g0065a0001c0023t0001g0056 | 3 | 80 | 0.0375 | -8 | c.613 others(27): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 38/70 | chr8 | TogoVar | ||||||
| CSMD3_chr8_112217928_113441939 | 112410608 | ATATATAT others(1): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02258.hp2 HG02559.hp1 |
a0001a0002 | a0001c0017a0001c0019a0002c0027 | a0001c0017t0003a0001c0019t0005a0002c0027t0003 | a0001c0017t0003g0017a0001c0019t0005g0065a0002c0027t0003g0047 | 3 | 80 | 0.0375 | -8 | c.539 others(27): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 32/70 | chr8 | TogoVar | ||||||
| CSMD3_chr8_112217928_113441939 | 112494494 | CCTTTCTT others(1): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02922.hp2 HG03139.hp2 |
a0001a0011 | a0001c0001a0001c0017a0011c0035 | a0001c0001t0007a0001c0017t0003a0011c0035t0001 | a0001c0001t0007g0045a0001c0017t0003g0017a0011c0035t0001g0003 | 3 | 80 | 0.0375 | -8 | c.508 others(27): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 30/70 | chr8 | TogoVar | ||||||
| CSMD3_chr8_112217928_113441939 | 112525788 | ATATATAT others(1): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG03041.hp2 NA20300.hp2 |
a0001a0005 | a0001c0023a0005c0012a0005c0013 | a0001c0023t0001a0005c0012t0001a0005c0013t0001 | a0001c0023t0001g0056a0005c0012t0001g0038a0005c0013t0001g0039 | 3 | 80 | 0.0375 | -8 | c.456 others(27): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 27/70 | chr8 | TogoVar | ||||||
| CSMD3_chr8_112217928_113441939 | 112630942 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG01261.hp2 HG02970.hp2 HG03139.hp2 |
a0001a0010a0011 | a0001c0001a0010c0025a0011c0035 | a0001c0001t0007a0010c0025t0003a0011c0035t0001 | a0001c0001t0007g0041a0010c0025t0003g0052a0011c0035t0001g0003 | 3 | 80 | 0.0375 | -8 | c.371 others(27): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 22/70 | chr8 | TogoVar | ||||||
| CSMD3_chr8_112217928_113441939 | 112636538 | TTCTATCT others(1): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01074.hp1 HG01081.hp2 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0016a0001c0024others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0016t0001others(6): Show | a0001c0001t0002g0022a0001c0001t0002g0068a0001c0001t0003g0023others(7): Show | 10 | 80 | 0.1250 | -8 | c.371 others(25): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 22/70 | chr8 | TogoVar | ||||||
| CSMD3_chr8_112217928_113441939 | 112692913 | ATATCTAT others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG01081.hp2 others(24): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0007a0001c0016others(14): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0002g0022a0001c0001t0002g0068a0001c0001t0003g0010others(24): Show | 27 | 80 | 0.3375 | -8 | c.197 others(27): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 13/70 | chr8 | TogoVar | ||||||
| CSMD3_chr8_112217928_113441939 | 112752900 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG02922.hp1 HG03041.hp2 HG03225.hp1 others(1): Show |
a0001a0002a0005others(1): Show | a0001c0023a0002c0010a0005c0013others(1): Show | a0001c0023t0001a0002c0010t0002a0005c0013t0001others(1): Show | a0001c0023t0001g0056a0002c0010t0002g0070a0005c0013t0001g0039others(1): Show | 4 | 80 | 0.0500 | -8 | c.197 others(29): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 13/70 | chr8 | TogoVar | ||||||
| CSMD3_chr8_112217928_113441939 | 112783424 | GGGAAGGA others(1): Show |
G | intron_variant | MODIFIER | HG01074.hp1 HG02559.hp1 HG03041.hp1 others(1): Show |
a0001a0007 | a0001c0001a0001c0017a0007c0009 | a0001c0001t0001a0001c0001t0003a0001c0017t0003others(1): Show | a0001c0001t0001g0016a0001c0001t0003g0023a0001c0017t0003g0017others(1): Show | 4 | 80 | 0.0500 | -8 | c.197 others(29): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 13/70 | chr8 | TogoVar | ||||||
| CSMD3_chr8_112217928_113441939 | 112807488 | ATAGGTAG others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG01074.hp2 HG01081.hp1 others(24): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0006a0001c0007others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0016a0001c0001t0002g0025a0001c0001t0004g0015others(24): Show | 27 | 80 | 0.3375 | -8 | c.186 others(27): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 12/70 | chr8 | TogoVar | ||||||
| CSMD3_chr8_112217928_113441939 | 112827164 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG03225.hp1 NA19043.hp1 NA19240.hp2 |
a0001a0008 | a0001c0001a0001c0006a0008c0014 | a0001c0001t0003a0001c0006t0004a0008c0014t0005 | a0001c0001t0003g0044a0001c0006t0004g0060a0008c0014t0005g0040 | 3 | 80 | 0.0375 | -8 | c.185 others(27): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 12/70 | chr8 | TogoVar | ||||||
| CSMD3_chr8_112217928_113441939 | 112829885 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG01081.hp1 HG01109.hp1 others(24): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0007a0001c0021others(11): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(16): Show | a0001c0001t0002g0022a0001c0001t0002g0025a0001c0001t0004g0042others(24): Show | 27 | 80 | 0.3375 | -8 | c.175 others(24): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 11/70 | chr8 | TogoVar | ||||||
| CSMD3_chr8_112217928_113441939 | 112865684 | CCCCACAC others(1): Show |
C | intron_variant | MODIFIER | HG00673.hp2 HG00741.hp2 HG01081.hp2 others(4): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0015a0001c0024others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0015t0001others(4): Show | a0001c0001t0002g0014a0001c0001t0004g0067a0001c0015t0001g0026others(4): Show | 7 | 80 | 0.0875 | -8 | c.163 others(27): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 10/70 | chr8 | TogoVar | ||||||
| CSMD3_chr8_112217928_113441939 | 112897690 | CTCTCTGT others(1): Show |
C | intron_variant | MODIFIER | HG01255.hp2 HG01257.hp1 NA19043.hp2 |
a0001a0002a0014 | a0001c0001a0002c0033a0014c0030 | a0001c0001t0004a0002c0033t0002a0014c0030t0001 | a0001c0001t0004g0018a0002c0033t0002g0029a0014c0030t0001g0030 | 3 | 80 | 0.0375 | -8 | c.163 others(29): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 10/70 | chr8 | TogoVar |