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 | 3182578 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG02129.hp1 HG02258.hp2 others(6): Show |
a0001a0002a0005others(3): Show | a0001c0025a0001c0103a0001c0105others(6): Show | a0001c0025t0003a0001c0103t0033a0001c0105t0001others(6): Show | a0001c0025t0003g0077a0001c0103t0033g0028a0001c0105t0001g0029others(6): Show | 9 | 126 | 0.0714 | -12 | c.562 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 36/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3262184 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG03579.hp1 | a0006 | a0006c0116 | a0006c0116t0004 | a0006c0116t0004g0039 | 1 | 126 | 0.0079 | -12 | c.415 others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 26/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3388896 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01071.hp1 HG01261.hp1 others(5): Show |
a0001a0002 | a0001c0002a0001c0005a0001c0108others(4): Show | a0001c0002t0002a0001c0002t0061a0001c0005t0007others(5): Show | a0001c0002t0002g0083a0001c0002t0061g0069a0001c0005t0007g0070others(5): Show | 8 | 126 | 0.0635 | -12 | c.259 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 17/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3411783 | TGTATATA others(5): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG01243.hp2 others(7): Show |
a0001a0002a0008others(5): Show | a0001c0094a0001c0105a0002c0074others(7): Show | a0001c0094t0002a0001c0105t0001a0002c0074t0041others(7): Show | a0001c0094t0002g0110a0001c0105t0001g0029a0002c0074t0041g0031others(7): Show | 10 | 126 | 0.0794 | -12 | c.156 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3411870 | GCACGTAT others(5): Show |
G | intron_variant | MODIFIER | HG01071.hp2 HG01884.hp1 HG02055.hp2 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0043a0001c0045a0001c0046others(6): Show | a0001c0043t0031a0001c0045t0012a0001c0046t0073others(6): Show | a0001c0043t0031g0044a0001c0045t0012g0010a0001c0046t0073g0091others(6): Show | 9 | 126 | 0.0714 | -12 | c.156 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3411894 | GCACGTAT others(5): Show |
G | intron_variant | MODIFIER | HG01074.hp1 HG02258.hp1 |
a0001a0032 | a0001c0114a0032c0011 | a0001c0114t0003a0032c0011t0065 | a0001c0114t0003g0119a0032c0011t0065g0101 | 2 | 126 | 0.0159 | -12 | c.156 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3412011 | TATACATA others(5): Show |
T | intron_variant | MODIFIER | HG01074.hp2 HG01255.hp2 HG02886.hp1 others(1): Show |
a0001a0002a0004 | a0001c0039a0001c0049a0002c0048others(1): Show | a0001c0039t0066a0001c0049t0002a0002c0048t0013others(1): Show | a0001c0039t0066g0080a0001c0049t0002g0071a0002c0048t0013g0015others(1): Show | 4 | 126 | 0.0318 | -12 | c.156 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3414212 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02647.hp1 | a0003 | a0003c0058 | a0003c0058t0057 | a0003c0058t0057g0117 | 1 | 126 | 0.0079 | -12 | c.156 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3439281 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0043 | a0001c0043t0031 | a0001c0043t0031g0044 | 1 | 126 | 0.0079 | -12 | c.156 others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3439299 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | NA19060.hp1 NA19074.hp2 |
a0001 | a0001c0007a0001c0090 | a0001c0007t0001a0001c0090t0001 | a0001c0007t0001g0035a0001c0090t0001g0027 | 2 | 126 | 0.0159 | -12 | c.156 others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3494554 | TGATAGAT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01255.hp1 HG01884.hp2 others(9): Show |
a0001a0002a0010others(3): Show | a0001c0001a0001c0020a0001c0043others(9): Show | a0001c0001t0002a0001c0020t0016a0001c0043t0031others(9): Show | a0001c0001t0002g0102a0001c0020t0016g0065a0001c0043t0031g0044others(9): Show | 12 | 126 | 0.0952 | -12 | c.134 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3551592 | ATATATTT others(5): Show |
A | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0043 | a0001c0043t0031 | a0001c0043t0031g0044 | 1 | 126 | 0.0079 | -12 | c.134 others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3596777 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00438.hp2 others(40): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0003a0001c0005others(39): Show | a0001c0001t0002a0001c0003t0008a0001c0005t0002others(40): Show | a0001c0001t0002g0125a0001c0003t0008g0053a0001c0005t0002g0111others(40): Show | 43 | 126 | 0.3413 | -12 | c.109 others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 8/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3703436 | TTTCATTC others(5): Show |
T | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0109 | 1 | 126 | 0.0079 | -12 | c.100 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 7/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3712394 | GAGAGAGA others(5): Show |
G | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0046 | a0001c0046t0073 | a0001c0046t0073g0091 | 1 | 126 | 0.0079 | -12 | c.932 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3712398 | GAGACAGA others(5): Show |
G | intron_variant | MODIFIER | NA18983.hp1 NA19090.hp2 |
a0001a0002 | a0001c0061a0002c0092 | a0001c0061t0001a0002c0092t0001 | a0001c0061t0001g0021a0002c0092t0001g0011 | 2 | 126 | 0.0159 | -12 | c.932 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3712434 | CAGACAGA others(5): Show |
C | intron_variant | MODIFIER | HG02615.hp2 HG03017.hp2 HG03669.hp2 |
a0001a0036 | a0001c0001a0001c0004a0036c0100 | a0001c0001t0039a0001c0004t0063a0036c0100t0017 | a0001c0001t0039g0017a0001c0004t0063g0095a0036c0100t0017g0121 | 3 | 126 | 0.0238 | -12 | c.932 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3729950 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG02129.hp1 HG02965.hp2 |
a0001a0038 | a0001c0103a0038c0066 | a0001c0103t0033a0038c0066t0010 | a0001c0103t0033g0028a0038c0066t0010g0032 | 2 | 126 | 0.0159 | -12 | c.932 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3733168 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0006 | a0001c0006t0060 | a0001c0006t0060g0103 | 1 | 126 | 0.0079 | -12 | c.931 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3753010 | GAGGTATT others(5): Show |
G | intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0021 | a0001c0021t0005 | a0001c0021t0005g0012 | 1 | 126 | 0.0079 | -12 | c.931 others(27): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3777121 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02886.hp1 HG03098.hp2 |
a0001a0011 | a0001c0039a0011c0110 | a0001c0039t0066a0011c0110t0074 | a0001c0039t0066g0080a0011c0110t0074g0082 | 2 | 126 | 0.0159 | -12 | c.819 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3779149 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0017 | a0001c0017t0005 | a0001c0017t0005g0003 | 1 | 126 | 0.0079 | -12 | c.819 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3817252 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02055.hp1 | a0006 | a0006c0083 | a0006c0083t0004 | a0006c0083t0004g0006 | 1 | 126 | 0.0079 | -12 | c.819 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3889452 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0072 | a0002c0072t0003 | a0002c0072t0003g0066 | 1 | 126 | 0.0079 | -12 | c.818 others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3889482 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG02615.hp1 | a0026 | a0026c0082 | a0026c0082t0052 | a0026c0082t0052g0097 | 1 | 126 | 0.0079 | -12 | c.818 others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3926079 | CCATACAC others(5): Show |
C | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0033 | a0001c0033t0003 | a0001c0033t0003g0059 | 1 | 126 | 0.0079 | -12 | c.818 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3926082 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01071.hp1 HG01071.hp2 others(16): Show |
a0001a0002a0003others(8): Show | a0001c0004a0001c0047a0001c0073others(16): Show | a0001c0004t0020a0001c0047t0014a0001c0073t0007others(16): Show | a0001c0004t0020g0086a0001c0047t0014g0024a0001c0073t0007g0108others(16): Show | 19 | 126 | 0.1508 | -12 | c.818 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3984704 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG03834.hp1 | a0004 | a0004c0087 | a0004c0087t0001 | a0004c0087t0001g0022 | 1 | 126 | 0.0079 | -12 | c.818 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3984741 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG01123.hp1 | a0008 | a0008c0008 | a0008c0008t0082 | a0008c0008t0082g0126 | 1 | 126 | 0.0079 | -12 | c.818 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4023773 | TTTTTTTT others(5): Show |
T | intron_variant | MODIFIER | HG02056.hp1 HG02129.hp1 NA19074.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0103a0002c0076others(1): Show | a0001c0002t0002a0001c0103t0033a0002c0076t0035others(1): Show | a0001c0002t0002g0083a0001c0103t0033g0028a0002c0076t0035g0014others(1): Show | 4 | 126 | 0.0318 | -12 | c.610 others(29): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 4/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4078891 | TAATAAAT others(5): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02451.hp2 HG03209.hp1 others(1): Show |
a0001a0002a0017others(1): Show | a0001c0020a0002c0022a0017c0106others(1): Show | a0001c0020t0016a0002c0022t0036a0017c0106t0012others(1): Show | a0001c0020t0016g0065a0002c0022t0036g0048a0017c0106t0012g0042others(1): Show | 4 | 126 | 0.0318 | -12 | c.416 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4108043 | GAGAGACA others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(118): Show |
a0001a0002a0003others(33): Show | a0001c0001a0001c0002a0001c0003others(108): Show | a0001c0001t0002a0001c0001t0039a0001c0002t0002others(117): Show | a0001c0001t0002g0102a0001c0001t0002g0125a0001c0001t0039g0017others(118): Show | 121 | 126 | 0.9603 | -12 | c.416 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4115964 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG01071.hp1 others(34): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0006others(33): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0061others(34): Show | a0001c0001t0002g0125a0001c0002t0002g0083a0001c0002t0061g0069others(34): Show | 37 | 126 | 0.2937 | -12 | c.416 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4138076 | TTTTTTTT others(5): Show |
T | intron_variant | MODIFIER | HG03139.hp2 NA19043.hp1 |
a0001 | a0001c0033a0001c0093 | a0001c0033t0003a0001c0093t0009 | a0001c0033t0003g0059a0001c0093t0009g0007 | 2 | 126 | 0.0159 | -12 | c.416 others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4146592 | ACATTTTT others(5): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG02559.hp1 HG02572.hp1 others(6): Show |
a0001a0002a0005others(4): Show | a0001c0004a0001c0085a0002c0035others(6): Show | a0001c0004t0020a0001c0085t0020a0002c0035t0047others(6): Show | a0001c0004t0020g0086a0001c0085t0020g0060a0002c0035t0047g0076others(6): Show | 9 | 126 | 0.0714 | -12 | c.416 others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4201540 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp1 HG02074.hp2 others(10): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0030a0002c0035others(10): Show | a0001c0001t0002a0002c0030t0016a0002c0035t0047others(10): Show | a0001c0001t0002g0102a0002c0030t0016g0122a0002c0035t0047g0076others(10): Show | 13 | 126 | 0.1032 | -12 | c.416 others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4249752 | TATTAATG others(5): Show |
T | intron_variant | MODIFIER | HG01934.hp2 HG02074.hp1 NA18982.hp2 others(3): Show |
a0001a0004a0039 | a0001c0005a0001c0079a0001c0102others(3): Show | a0001c0005t0002a0001c0079t0072a0001c0102t0005others(3): Show | a0001c0005t0002g0111a0001c0079t0072g0113a0001c0102t0005g0034others(3): Show | 6 | 126 | 0.0476 | -12 | c.415 others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4277982 | TCGTGATT others(5): Show |
T | intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0081 | a0001c0081t0037 | a0001c0081t0037g0030 | 1 | 126 | 0.0079 | -12 | c.415 others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4295750 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG02683.hp2 HG02886.hp1 HG03098.hp1 others(1): Show |
a0001a0002a0011 | a0001c0002a0001c0039a0002c0037others(1): Show | a0001c0002t0028a0001c0039t0066a0002c0037t0009others(1): Show | a0001c0002t0028g0005a0001c0039t0066g0080a0002c0037t0009g0046others(1): Show | 4 | 126 | 0.0318 | -12 | c.415 others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4295777 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00735.hp1 HG01071.hp1 others(20): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0002a0001c0004others(20): Show | a0001c0001t0039a0001c0002t0002a0001c0004t0020others(20): Show | a0001c0001t0039g0017a0001c0002t0002g0083a0001c0004t0020g0086others(20): Show | 23 | 126 | 0.1825 | -12 | c.415 others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4303420 | CTGTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG01074.hp1 others(4): Show |
a0001a0002a0004others(2): Show | a0001c0071a0001c0094a0001c0102others(4): Show | a0001c0071t0069a0001c0094t0002a0001c0102t0005others(4): Show | a0001c0071t0069g0115a0001c0094t0002g0110a0001c0102t0005g0034others(4): Show | 7 | 126 | 0.0556 | -12 | c.415 others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4303422 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG02280.hp2 HG02965.hp1 HG03225.hp2 others(4): Show |
a0001a0003a0008others(2): Show | a0001c0007a0001c0025a0001c0045others(4): Show | a0001c0007t0001a0001c0025t0003a0001c0045t0012others(4): Show | a0001c0007t0001g0035a0001c0025t0003g0077a0001c0045t0012g0010others(4): Show | 7 | 126 | 0.0556 | -12 | c.415 others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4312437 | GCGTATAT others(5): Show |
G | intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0083 | 1 | 126 | 0.0079 | -12 | c.415 others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4312449 | ACGTATAT others(5): Show |
A | intron_variant | MODIFIER | HG03669.hp1 HG04204.hp1 NA19074.hp2 |
a0001a0034 | a0001c0006a0001c0090a0034c0055 | a0001c0006t0002a0001c0090t0001a0034c0055t0034 | a0001c0006t0002g0109a0001c0090t0001g0027a0034c0055t0034g0047 | 3 | 126 | 0.0238 | -12 | c.415 others(33): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4332552 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02622.hp2 HG03130.hp2 others(2): Show |
a0001a0002a0010others(2): Show | a0001c0046a0002c0054a0010c0112others(2): Show | a0001c0046t0073a0002c0054t0079a0010c0112t0081others(2): Show | a0001c0046t0073g0091a0002c0054t0079g0096a0010c0112t0081g0090others(2): Show | 5 | 126 | 0.0397 | -12 | c.415 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4332596 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG02615.hp1 HG02615.hp2 others(5): Show |
a0001a0002a0007others(3): Show | a0001c0004a0001c0026a0002c0015others(5): Show | a0001c0004t0063a0001c0026t0006a0002c0015t0021others(5): Show | a0001c0004t0063g0095a0001c0026t0006g0093a0002c0015t0021g0008others(5): Show | 8 | 126 | 0.0635 | -12 | c.415 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4354865 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02615.hp2 HG02622.hp2 others(3): Show |
a0001a0002a0010others(2): Show | a0001c0004a0001c0046a0002c0054others(3): Show | a0001c0004t0063a0001c0046t0073a0002c0054t0079others(3): Show | a0001c0004t0063g0095a0001c0046t0073g0091a0002c0054t0079g0096others(3): Show | 6 | 126 | 0.0476 | -12 | c.415 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4388309 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG02922.hp1 | a0015 | a0015c0062 | a0015c0062t0056 | a0015c0062t0056g0062 | 1 | 126 | 0.0079 | -12 | c.415 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4444346 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG02280.hp1 HG02280.hp2 others(5): Show |
a0001a0002a0003others(3): Show | a0001c0019a0002c0053a0002c0060others(5): Show | a0001c0019t0078a0002c0053t0022a0002c0060t0006others(5): Show | a0001c0019t0078g0105a0002c0053t0022g0041a0002c0060t0006g0094others(5): Show | 8 | 126 | 0.0635 | -12 | c.303 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4446743 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | HG02451.hp2 | a0029 | a0029c0028 | a0029c0028t0024 | a0029c0028t0024g0040 | 1 | 126 | 0.0079 | -12 | c.303 others(31): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar |