Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	chr	external
CSMD1_chr8_2930361_4999914	3772484	TATACACA others(7): Show TATACACATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01071.hp1 HG01123.hp1 others(8): Show HG00438.hp1 HG01071.hp1 HG01123.hp1 HG02074.hp2 HG02258.hp2 HG02615.hp2 HG03017.hp2 HG03540.hp2 NA18522.hp2 NA18906.hp2 NA18983.hp1	a0001 a0002 a0008 others(2): Show a0001 a0002 a0008 a0009 a0036	a0001c0004 a0001c0061 a0001c0094 others(8): Show a0001c0004 a0001c0061 a0001c0094 a0001c0115 a0002c0041 a0002c0072 a0002c0091 a0008c0008 a0008c0067 a0009c0113 a0036c0100	a0001c0004t0063 a0001c0061t0001 a0001c0094t0002 others(8): Show a0001c0004t0063 a0001c0061t0001 a0001c0094t0002 a0001c0115t0042 a0002c0041t0027 a0002c0072t0003 a0002c0091t0002 a0008c0008t0082 a0008c0067t0059 a0009c0113t0011 a0036c0100t0017	a0001c0004t0063g0095 a0001c0061t0001g0021 a0001c0094t0002g0110 others(8): Show a0001c0004t0063g0095 a0001c0061t0001g0021 a0001c0094t0002g0110 a0001c0115t0042g0055 a0002c0041t0027g0018 a0002c0072t0003g0066 a0002c0091t0002g0114 a0008c0008t0082g0126 a0008c0067t0059g0079 a0009c0113t0011g0043 a0036c0100t0017g0121	11	126	0.0873	-14	c.819 others(33): Show c.819-18456_819-18443delGTATATATGTGTAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	3817252	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02886.hp1 HG02258.hp1 HG02886.hp1	a0001 a0001	a0001c0039 a0001c0114 a0001c0039 a0001c0114	a0001c0039t0066 a0001c0114t0003 a0001c0039t0066 a0001c0114t0003	a0001c0039t0066g0080 a0001c0114t0003g0119 a0001c0039t0066g0080 a0001c0114t0003g0119	2	126	0.0159	-14	c.819 others(33): Show c.819-63224_819-63211delAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	3885988	TATATATA others(7): Show TATATATATGTGTAC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0011 a0011	a0011c0110 a0011c0110	a0011c0110t0074 a0011c0110t0074	a0011c0110t0074g0082 a0011c0110t0074g0082	1	126	0.0079	-14	c.818 others(35): Show c.818+111901_818+111914delGTACACATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	3984704	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02280.hp2 HG02615.hp2 others(1): Show HG01071.hp2 HG02280.hp2 HG02615.hp2 HG02723.hp1	a0001 a0003 a0024 a0001 a0003 a0024	a0001c0004 a0001c0047 a0003c0034 others(1): Show a0001c0004 a0001c0047 a0003c0034 a0024c0038	a0001c0004t0063 a0001c0047t0014 a0003c0034t0030 others(1): Show a0001c0004t0063 a0001c0047t0014 a0003c0034t0030 a0024c0038t0075	a0001c0004t0063g0095 a0001c0047t0014g0024 a0003c0034t0030g0038 others(1): Show a0001c0004t0063g0095 a0001c0047t0014g0024 a0003c0034t0030g0038 a0024c0038t0075g0067	4	126	0.0318	-14	c.818 others(33): Show c.818+13185_818+13198delATATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	4019444	ACATTCCC others(7): Show ACATTCCCTTATTAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00423.hp1 others(84): Show HG00099.hp1 HG00099.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00735.hp1 HG01081.hp1 HG01081.hp2 HG01123.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18971.hp1 NA18971.hp2 NA18979.hp2 NA18983.hp1 NA18995.hp1 NA19030.hp1 NA19030.hp2 NA19060.hp1 NA19060.hp2 NA19074.hp1 NA19074.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1	a0001 a0002 a0003 others(27): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0011 a0012 a0014 a0015 a0016 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0033 a0034 a0035 a0037 a0038	a0001c0001 a0001c0002 a0001c0003 others(79): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0017 a0001c0019 a0001c0025 a0001c0033 a0001c0039 a0001c0040 a0001c0043 a0001c0045 a0001c0046 a0001c0049 a0001c0061 a0001c0068 a0001c0071 a0001c0079 a0001c0080 a0001c0081 a0001c0085 a0001c0090 a0001c0094 a0001c0102 a0001c0103 a0001c0109 a0001c0114 a0001c0115 a0002c0022 a0002c0030 a0002c0031 a0002c0032 a0002c0037 a0002c0048 a0002c0053 a0002c0054 a0002c0060 a0002c0072 a0002c0074 a0002c0075 a0002c0076 a0002c0077 a0002c0078 a0002c0084 a0002c0091 a0002c0092 a0003c0034 a0003c0057 a0003c0058 a0004c0087 a0004c0099 a0005c0064 a0005c0065 a0005c0107 a0006c0116 a0007c0029 a0011c0110 a0012c0104 a0014c0010 a0015c0062 a0016c0063 a0018c0044 a0019c0018 a0020c0024 a0021c0016 a0022c0013 a0023c0095 a0024c0038 a0025c0096 a0026c0082 a0027c0023 a0028c0097 a0029c0028 a0030c0052 a0033c0042 a0034c0055 a0035c0098 a0037c0101 a0038c0066	a0001c0001t0002 a0001c0001t0039 a0001c0002t0002 others(83): Show a0001c0001t0002 a0001c0001t0039 a0001c0002t0002 a0001c0002t0061 a0001c0003t0008 a0001c0004t0020 a0001c0004t0063 a0001c0005t0007 a0001c0006t0060 a0001c0007t0001 a0001c0007t0032 a0001c0017t0005 a0001c0019t0078 a0001c0025t0003 a0001c0033t0003 a0001c0039t0066 a0001c0040t0019 a0001c0043t0031 a0001c0045t0012 a0001c0046t0073 a0001c0049t0002 a0001c0061t0001 a0001c0068t0015 a0001c0071t0069 a0001c0079t0072 a0001c0080t0040 a0001c0081t0037 a0001c0085t0020 a0001c0090t0001 a0001c0094t0002 a0001c0102t0005 a0001c0103t0033 a0001c0109t0038 a0001c0114t0003 a0001c0115t0042 a0002c0022t0036 a0002c0030t0016 a0002c0031t0015 a0002c0032t0050 a0002c0037t0009 a0002c0048t0013 a0002c0053t0022 a0002c0054t0079 a0002c0060t0006 a0002c0072t0003 a0002c0074t0041 a0002c0075t0026 a0002c0076t0035 a0002c0077t0001 a0002c0078t0044 a0002c0084t0018 a0002c0091t0002 a0002c0092t0001 a0003c0034t0030 a0003c0057t0080 a0003c0058t0057 a0004c0087t0001 a0004c0099t0014 a0005c0064t0051 a0005c0065t0023 a0005c0107t0068 a0006c0116t0004 a0007c0029t0011 a0011c0110t0074 a0012c0104t0071 a0014c0010t0070 a0015c0062t0056 a0016c0063t0010 a0018c0044t0064 a0019c0018t0058 a0020c0024t0077 a0021c0016t0048 a0022c0013t0007 a0023c0095t0002 a0024c0038t0075 a0025c0096t0067 a0026c0082t0052 a0027c0023t0001 a0028c0097t0018 a0029c0028t0024 a0030c0052t0049 a0033c0042t0004 a0034c0055t0034 a0035c0098t0025 a0037c0101t0008 a0038c0066t0010	a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0039g0017 others(84): Show a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0039g0017 a0001c0002t0002g0083 a0001c0002t0061g0069 a0001c0003t0008g0053 a0001c0004t0020g0086 a0001c0004t0063g0095 a0001c0005t0007g0070 a0001c0006t0060g0103 a0001c0007t0001g0035 a0001c0007t0032g0033 a0001c0017t0005g0003 a0001c0019t0078g0105 a0001c0025t0003g0077 a0001c0033t0003g0059 a0001c0039t0066g0080 a0001c0040t0019g0123 a0001c0043t0031g0044 a0001c0045t0012g0010 a0001c0046t0073g0091 a0001c0049t0002g0071 a0001c0061t0001g0021 a0001c0068t0015g0049 a0001c0071t0069g0115 a0001c0079t0072g0113 a0001c0080t0040g0025 a0001c0081t0037g0030 a0001c0085t0020g0060 a0001c0090t0001g0027 a0001c0094t0002g0110 a0001c0102t0005g0034 a0001c0103t0033g0028 a0001c0109t0038g0013 a0001c0114t0003g0119 a0001c0115t0042g0055 a0002c0022t0036g0048 a0002c0030t0016g0122 a0002c0031t0015g0001 a0002c0032t0050g0061 a0002c0037t0009g0046 a0002c0048t0013g0015 a0002c0053t0022g0041 a0002c0054t0079g0096 a0002c0060t0006g0094 a0002c0072t0003g0066 a0002c0074t0041g0031 a0002c0075t0026g0051 a0002c0076t0035g0014 a0002c0077t0001g0016 a0002c0078t0044g0064 a0002c0084t0018g0087 a0002c0091t0002g0114 a0002c0092t0001g0011 a0003c0034t0030g0038 a0003c0057t0080g0075 a0003c0058t0057g0117 a0004c0087t0001g0022 a0004c0099t0014g0020 a0005c0064t0051g0078 a0005c0065t0023g0050 a0005c0107t0068g0073 a0006c0116t0004g0039 a0007c0029t0011g0054 a0011c0110t0074g0082 a0012c0104t0071g0058 a0014c0010t0070g0084 a0015c0062t0056g0062 a0016c0063t0010g0045 a0018c0044t0064g0085 a0019c0018t0058g0068 a0020c0024t0077g0104 a0021c0016t0048g0106 a0022c0013t0007g0112 a0023c0095t0002g0124 a0024c0038t0075g0067 a0025c0096t0067g0116 a0026c0082t0052g0097 a0027c0023t0001g0052 a0028c0097t0018g0089 a0029c0028t0024g0040 a0030c0052t0049g0098 a0033c0042t0004g0004 a0034c0055t0034g0047 a0035c0098t0025g0019 a0037c0101t0008g0023 a0038c0066t0010g0032	87	126	0.6905	-14	c.610 others(33): Show c.610+12447_610+12460delCTAATAAGGGAATG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	4/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	4019445	CATTCCCT others(7): Show CATTCCCTTATTAGG	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0093 a0001c0093	a0001c0093t0009 a0001c0093t0009	a0001c0093t0009g0007 a0001c0093t0009g0007	1	126	0.0079	-14	c.610 others(33): Show c.610+12446_610+12459delCCTAATAAGGGAAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	4/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	4078891	TAATAAAT others(7): Show TAATAAATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0111 a0001c0005t0002g0111	1	126	0.0079	-14	c.416 others(33): Show c.416-46806_416-46793delTATATATATTTATT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	4127453	GAAAAAAA others(7): Show GAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG01884.hp1 others(13): Show HG00099.hp1 HG00438.hp1 HG01884.hp1 HG02258.hp1 HG02486.hp2 HG02723.hp1 HG03225.hp1 HG03540.hp2 HG03669.hp2 HG03834.hp2 HG04204.hp2 HG06807.hp2 NA18979.hp1 NA18982.hp2 NA19030.hp1 NA20129.hp1	a0001 a0002 a0009 others(3): Show a0001 a0002 a0009 a0014 a0024 a0028	a0001c0001 a0001c0005 a0001c0017 others(12): Show a0001c0001 a0001c0005 a0001c0017 a0001c0019 a0001c0040 a0001c0046 a0001c0068 a0001c0094 a0001c0114 a0002c0036 a0002c0070 a0009c0113 a0014c0010 a0024c0038 a0028c0097	a0001c0001t0002 a0001c0001t0039 a0001c0005t0002 others(13): Show a0001c0001t0002 a0001c0001t0039 a0001c0005t0002 a0001c0017t0005 a0001c0019t0078 a0001c0040t0019 a0001c0046t0073 a0001c0068t0015 a0001c0094t0002 a0001c0114t0003 a0002c0036t0029 a0002c0070t0046 a0009c0113t0011 a0014c0010t0070 a0024c0038t0075 a0028c0097t0018	a0001c0001t0002g0102 a0001c0001t0039g0017 a0001c0005t0002g0111 others(13): Show a0001c0001t0002g0102 a0001c0001t0039g0017 a0001c0005t0002g0111 a0001c0017t0005g0003 a0001c0019t0078g0105 a0001c0040t0019g0123 a0001c0046t0073g0091 a0001c0068t0015g0049 a0001c0094t0002g0110 a0001c0114t0003g0119 a0002c0036t0029g0009 a0002c0070t0046g0092 a0009c0113t0011g0043 a0014c0010t0070g0084 a0024c0038t0075g0067 a0028c0097t0018g0089	16	126	0.1270	-14	c.416 others(33): Show c.416-95368_416-95355delTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	4146593	CATTTTTT others(7): Show CATTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0026 a0026	a0026c0082 a0026c0082	a0026c0082t0052 a0026c0082t0052	a0026c0082t0052g0097 a0026c0082t0052g0097	1	126	0.0079	-14	c.416 others(35): Show c.416-114508_416-114495delAAAAAAAAAAAAAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	4226067	GACACACA others(7): Show GACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0027 a0027	a0027c0023 a0027c0023	a0027c0023t0001 a0027c0023t0001	a0027c0023t0001g0052 a0027c0023t0001g0052	1	126	0.0079	-14	c.415 others(35): Show c.415+193872_415+193885delGTGTGTGTGTGTGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	4295775	TATATATA others(7): Show TATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03130.hp1 HG02615.hp1 HG03130.hp1	a0001 a0026 a0001 a0026	a0001c0026 a0026c0082 a0001c0026 a0026c0082	a0001c0026t0006 a0026c0082t0052 a0001c0026t0006 a0026c0082t0052	a0001c0026t0006g0093 a0026c0082t0052g0097 a0001c0026t0006g0093 a0026c0082t0052g0097	2	126	0.0159	-14	c.415 others(35): Show c.415+124164_415+124177delGTATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	4303422	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01243.hp2 HG01255.hp1 others(15): Show HG00099.hp1 HG01243.hp2 HG01255.hp1 HG01261.hp1 HG01261.hp2 HG02074.hp2 HG02572.hp2 HG02683.hp2 HG03209.hp1 HG03225.hp1 HG03540.hp1 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18971.hp1 NA18979.hp1 NA18984.hp1 NA18984.hp2	a0001 a0002 a0007 others(5): Show a0001 a0002 a0007 a0016 a0027 a0028 a0034 a0035	a0001c0001 a0001c0003 a0001c0017 others(15): Show a0001c0001 a0001c0003 a0001c0017 a0001c0020 a0001c0059 a0001c0108 a0002c0015 a0002c0031 a0002c0036 a0002c0037 a0002c0077 a0002c0091 a0007c0029 a0016c0063 a0027c0023 a0028c0097 a0034c0055 a0035c0098	a0001c0001t0002 a0001c0003t0013 a0001c0017t0005 others(15): Show a0001c0001t0002 a0001c0003t0013 a0001c0017t0005 a0001c0020t0016 a0001c0059t0001 a0001c0108t0054 a0002c0015t0021 a0002c0031t0015 a0002c0036t0029 a0002c0037t0009 a0002c0077t0001 a0002c0091t0002 a0007c0029t0011 a0016c0063t0010 a0027c0023t0001 a0028c0097t0018 a0034c0055t0034 a0035c0098t0025	a0001c0001t0002g0102 a0001c0003t0013g0026 a0001c0017t0005g0003 others(15): Show a0001c0001t0002g0102 a0001c0003t0013g0026 a0001c0017t0005g0003 a0001c0020t0016g0065 a0001c0059t0001g0036 a0001c0108t0054g0074 a0002c0015t0021g0008 a0002c0031t0015g0001 a0002c0036t0029g0009 a0002c0037t0009g0046 a0002c0077t0001g0016 a0002c0091t0002g0114 a0007c0029t0011g0054 a0016c0063t0010g0045 a0027c0023t0001g0052 a0028c0097t0018g0089 a0034c0055t0034g0047 a0035c0098t0025g0019	18	126	0.1429	-14	c.415 others(35): Show c.415+116517_415+116530delAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	4332552	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02129.hp1 HG02280.hp1 others(1): Show HG01884.hp2 HG02129.hp1 HG02280.hp1 HG02647.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0103 a0002c0022 a0002c0053 others(1): Show a0001c0103 a0002c0022 a0002c0053 a0003c0058	a0001c0103t0033 a0002c0022t0036 a0002c0053t0022 others(1): Show a0001c0103t0033 a0002c0022t0036 a0002c0053t0022 a0003c0058t0057	a0001c0103t0033g0028 a0002c0022t0036g0048 a0002c0053t0022g0041 others(1): Show a0001c0103t0033g0028 a0002c0022t0036g0048 a0002c0053t0022g0041 a0003c0058t0057g0117	4	126	0.0318	-14	c.415 others(33): Show c.415+87387_415+87400delGTGTGTGTGTGTGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	4354865	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02622.hp1 HG02965.hp2 others(2): Show HG02451.hp1 HG02622.hp1 HG02965.hp2 HG03130.hp1 HG03579.hp2	a0001 a0002 a0020 others(1): Show a0001 a0002 a0020 a0038	a0001c0026 a0002c0030 a0002c0051 others(2): Show a0001c0026 a0002c0030 a0002c0051 a0020c0024 a0038c0066	a0001c0026t0006 a0002c0030t0016 a0002c0051t0006 others(2): Show a0001c0026t0006 a0002c0030t0016 a0002c0051t0006 a0020c0024t0077 a0038c0066t0010	a0001c0026t0006g0093 a0002c0030t0016g0122 a0002c0051t0006g0081 others(2): Show a0001c0026t0006g0093 a0002c0030t0016g0122 a0002c0051t0006g0081 a0020c0024t0077g0104 a0038c0066t0010g0032	5	126	0.0397	-14	c.415 others(33): Show c.415+65074_415+65087delACACACACACACAC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	4446741	GTGTGTGT others(7): Show GTGTGTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03225.hp2 HG03195.hp2 HG03225.hp2	a0001 a0013 a0001 a0013	a0001c0025 a0013c0027 a0001c0025 a0013c0027	a0001c0025t0003 a0013c0027t0003 a0001c0025t0003 a0013c0027t0003	a0001c0025t0003g0077 a0013c0027t0003g0099 a0001c0025t0003g0077 a0013c0027t0003g0099	2	126	0.0159	-14	c.303 others(33): Show c.303-26690_303-26677delGACACACACACACA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	4446755	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01081.hp1 HG01884.hp2 others(12): Show HG01071.hp2 HG01081.hp1 HG01884.hp2 HG02280.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02886.hp2 HG02922.hp1 HG03098.hp2 HG03209.hp2 HG03540.hp2 NA19030.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0007 a0009 a0010 a0011 a0015 a0019	a0001c0004 a0001c0019 a0001c0043 others(12): Show a0001c0004 a0001c0019 a0001c0043 a0001c0047 a0002c0022 a0002c0060 a0002c0078 a0002c0084 a0003c0034 a0007c0029 a0009c0113 a0010c0112 a0011c0110 a0015c0062 a0019c0018	a0001c0004t0063 a0001c0019t0078 a0001c0043t0031 others(12): Show a0001c0004t0063 a0001c0019t0078 a0001c0043t0031 a0001c0047t0014 a0002c0022t0036 a0002c0060t0006 a0002c0078t0044 a0002c0084t0018 a0003c0034t0030 a0007c0029t0011 a0009c0113t0011 a0010c0112t0081 a0011c0110t0074 a0015c0062t0056 a0019c0018t0058	a0001c0004t0063g0095 a0001c0019t0078g0105 a0001c0043t0031g0044 others(12): Show a0001c0004t0063g0095 a0001c0019t0078g0105 a0001c0043t0031g0044 a0001c0047t0014g0024 a0002c0022t0036g0048 a0002c0060t0006g0094 a0002c0078t0044g0064 a0002c0084t0018g0087 a0003c0034t0030g0038 a0007c0029t0011g0054 a0009c0113t0011g0043 a0010c0112t0081g0090 a0011c0110t0074g0082 a0015c0062t0056g0062 a0019c0018t0058g0068	15	126	0.1191	-14	c.303 others(33): Show c.303-26704_303-26691delCACACACACACACA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	4453216	GACACACA others(7): Show GACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02055.hp2 HG02074.hp1 others(6): Show HG00099.hp1 HG02055.hp2 HG02074.hp1 HG02129.hp1 HG02683.hp2 HG03669.hp2 NA18971.hp2 NA18979.hp2 NA19074.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0023 a0028	a0001c0001 a0001c0079 a0001c0080 others(6): Show a0001c0001 a0001c0079 a0001c0080 a0001c0090 a0001c0103 a0002c0037 a0003c0057 a0023c0095 a0028c0097	a0001c0001t0039 a0001c0079t0072 a0001c0080t0040 others(6): Show a0001c0001t0039 a0001c0079t0072 a0001c0080t0040 a0001c0090t0001 a0001c0103t0033 a0002c0037t0009 a0003c0057t0080 a0023c0095t0002 a0028c0097t0018	a0001c0001t0039g0017 a0001c0079t0072g0113 a0001c0080t0040g0025 others(6): Show a0001c0001t0039g0017 a0001c0079t0072g0113 a0001c0080t0040g0025 a0001c0090t0001g0027 a0001c0103t0033g0028 a0002c0037t0009g0046 a0003c0057t0080g0075 a0023c0095t0002g0124 a0028c0097t0018g0089	9	126	0.0714	-14	c.303 others(33): Show c.303-33165_303-33152delGTGTGTGTGTGTGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	4455929	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0013 a0013	a0013c0027 a0013c0027	a0013c0027t0003 a0013c0027t0003	a0013c0027t0003g0099 a0013c0027t0003g0099	1	126	0.0079	-14	c.303 others(33): Show c.303-35878_303-35865delTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	4484980	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp1 HG01934.hp2 others(11): Show HG00099.hp1 HG00735.hp1 HG01934.hp2 HG02572.hp2 HG02683.hp2 HG02723.hp1 HG03579.hp1 HG03669.hp1 HG03834.hp1 HG03834.hp2 NA18971.hp2 NA18979.hp2 NA19030.hp1 NA19030.hp2	a0001 a0002 a0004 others(7): Show a0001 a0002 a0004 a0006 a0007 a0012 a0021 a0023 a0024 a0028	a0001c0006 a0001c0019 a0001c0040 others(11): Show a0001c0006 a0001c0019 a0001c0040 a0001c0080 a0002c0037 a0004c0087 a0004c0099 a0006c0116 a0007c0029 a0012c0104 a0021c0016 a0023c0095 a0024c0038 a0028c0097	a0001c0006t0002 a0001c0019t0078 a0001c0040t0019 others(11): Show a0001c0006t0002 a0001c0019t0078 a0001c0040t0019 a0001c0080t0040 a0002c0037t0009 a0004c0087t0001 a0004c0099t0014 a0006c0116t0004 a0007c0029t0011 a0012c0104t0071 a0021c0016t0048 a0023c0095t0002 a0024c0038t0075 a0028c0097t0018	a0001c0006t0002g0109 a0001c0019t0078g0105 a0001c0040t0019g0123 others(11): Show a0001c0006t0002g0109 a0001c0019t0078g0105 a0001c0040t0019g0123 a0001c0080t0040g0025 a0002c0037t0009g0046 a0004c0087t0001g0022 a0004c0099t0014g0020 a0006c0116t0004g0039 a0007c0029t0011g0054 a0012c0104t0071g0058 a0021c0016t0048g0106 a0023c0095t0002g0124 a0024c0038t0075g0067 a0028c0097t0018g0089	14	126	0.1111	-14	c.303 others(33): Show c.303-64929_303-64916delTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	4510390	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01071.hp1 HG01123.hp1 others(28): Show HG00099.hp1 HG01071.hp1 HG01123.hp1 HG01255.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02922.hp2 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03540.hp1 HG03669.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18983.hp1 NA19030.hp1 NA19043.hp2 NA19060.hp1 NA19074.hp1 NA19090.hp1 NA20129.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0006 a0007 a0008 a0011 a0024 a0028 a0031 a0034	a0001c0001 a0001c0004 a0001c0007 others(27): Show a0001c0001 a0001c0004 a0001c0007 a0001c0017 a0001c0019 a0001c0050 a0001c0061 a0001c0068 a0001c0079 a0001c0102 a0001c0111 a0002c0012 a0002c0015 a0002c0031 a0002c0035 a0002c0041 a0002c0060 a0002c0070 a0002c0076 a0002c0084 a0003c0057 a0003c0058 a0006c0083 a0007c0029 a0008c0008 a0011c0110 a0024c0038 a0028c0097 a0031c0069 a0034c0055	a0001c0001t0002 a0001c0001t0039 a0001c0004t0063 others(28): Show a0001c0001t0002 a0001c0001t0039 a0001c0004t0063 a0001c0007t0001 a0001c0017t0005 a0001c0019t0078 a0001c0050t0053 a0001c0061t0001 a0001c0068t0015 a0001c0079t0072 a0001c0102t0005 a0001c0111t0045 a0002c0012t0017 a0002c0015t0021 a0002c0031t0015 a0002c0035t0047 a0002c0041t0027 a0002c0060t0006 a0002c0070t0046 a0002c0076t0035 a0002c0084t0018 a0003c0057t0080 a0003c0058t0057 a0006c0083t0004 a0007c0029t0011 a0008c0008t0082 a0011c0110t0074 a0024c0038t0075 a0028c0097t0018 a0031c0069t0043 a0034c0055t0034	a0001c0001t0002g0125 a0001c0001t0039g0017 a0001c0004t0063g0095 others(28): Show a0001c0001t0002g0125 a0001c0001t0039g0017 a0001c0004t0063g0095 a0001c0007t0001g0035 a0001c0017t0005g0003 a0001c0019t0078g0105 a0001c0050t0053g0120 a0001c0061t0001g0021 a0001c0068t0015g0049 a0001c0079t0072g0113 a0001c0102t0005g0034 a0001c0111t0045g0063 a0002c0012t0017g0088 a0002c0015t0021g0008 a0002c0031t0015g0001 a0002c0035t0047g0076 a0002c0041t0027g0018 a0002c0060t0006g0094 a0002c0070t0046g0092 a0002c0076t0035g0014 a0002c0084t0018g0087 a0003c0057t0080g0075 a0003c0058t0057g0117 a0006c0083t0004g0006 a0007c0029t0011g0054 a0008c0008t0082g0126 a0011c0110t0074g0082 a0024c0038t0075g0067 a0028c0097t0018g0089 a0031c0069t0043g0100 a0034c0055t0034g0047	31	126	0.2460	-14	c.303 others(33): Show c.303-90339_303-90326delTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	4519742	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01071.hp1 HG01123.hp1 others(17): Show HG00438.hp1 HG01071.hp1 HG01123.hp1 HG02055.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02647.hp1 HG02723.hp1 HG02922.hp2 HG03209.hp2 HG03225.hp1 HG03540.hp1 HG06807.hp1 HG06807.hp2 NA18983.hp1 NA19030.hp1 NA19043.hp2 NA19074.hp1 NA20129.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0006 a0007 a0008 a0024 a0031	a0001c0004 a0001c0017 a0001c0019 others(17): Show a0001c0004 a0001c0017 a0001c0019 a0001c0050 a0001c0061 a0001c0068 a0001c0094 a0001c0111 a0002c0015 a0002c0035 a0002c0041 a0002c0060 a0002c0070 a0002c0076 a0003c0058 a0006c0083 a0007c0029 a0008c0008 a0024c0038 a0031c0069	a0001c0004t0063 a0001c0017t0005 a0001c0019t0078 others(17): Show a0001c0004t0063 a0001c0017t0005 a0001c0019t0078 a0001c0050t0053 a0001c0061t0001 a0001c0068t0015 a0001c0094t0002 a0001c0111t0045 a0002c0015t0021 a0002c0035t0047 a0002c0041t0027 a0002c0060t0006 a0002c0070t0046 a0002c0076t0035 a0003c0058t0057 a0006c0083t0004 a0007c0029t0011 a0008c0008t0082 a0024c0038t0075 a0031c0069t0043	a0001c0004t0063g0095 a0001c0017t0005g0003 a0001c0019t0078g0105 others(17): Show a0001c0004t0063g0095 a0001c0017t0005g0003 a0001c0019t0078g0105 a0001c0050t0053g0120 a0001c0061t0001g0021 a0001c0068t0015g0049 a0001c0094t0002g0110 a0001c0111t0045g0063 a0002c0015t0021g0008 a0002c0035t0047g0076 a0002c0041t0027g0018 a0002c0060t0006g0094 a0002c0070t0046g0092 a0002c0076t0035g0014 a0003c0058t0057g0117 a0006c0083t0004g0006 a0007c0029t0011g0054 a0008c0008t0082g0126 a0024c0038t0075g0067 a0031c0069t0043g0100	20	126	0.1587	-14	c.303 others(33): Show c.303-99691_303-99678delTTTTTTTTTTTTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	4565749	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG04204.hp1 HG01243.hp1 HG04204.hp1	a0005 a0034 a0005 a0034	a0005c0064 a0034c0055 a0005c0064 a0034c0055	a0005c0064t0051 a0034c0055t0034 a0005c0064t0051 a0034c0055t0034	a0005c0064t0051g0078 a0034c0055t0034g0047 a0005c0064t0051g0078 a0034c0055t0034g0047	2	126	0.0159	-14	c.302 others(33): Show c.302+71579_302+71592delATATATATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	4628409	CATATATA others(7): Show CATATATATACATAT	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0014 a0014	a0014c0010 a0014c0010	a0014c0010t0070 a0014c0010t0070	a0014c0010t0070g0084 a0014c0010t0070g0084	1	126	0.0079	-14	c.302 others(31): Show c.302+8919_302+8932delATATGTATATATAT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	4742000	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0012 a0001c0045t0012	a0001c0045t0012g0010 a0001c0045t0012g0010	1	126	0.0079	-14	c.86- others(33): Show c.86-104456_86-104443delAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	4795252	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0005 a0005	a0005c0064 a0005c0064	a0005c0064t0051 a0005c0064t0051	a0005c0064t0051g0078 a0005c0064t0051g0078	1	126	0.0079	-14	c.86- others(33): Show c.86-157708_86-157695delAAAAAAAAAAAAAA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69		chr8	TogoVar
CSMD1_chr8_2930361_4999914	4920912	AAAAGAAA others(7): Show AAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0016 a0016	a0016c0063 a0016c0063	a0016c0063t0010 a0016c0063t0010	a0016c0063t0010g0045 a0016c0063t0010g0045	1	126	0.0079	-14	c.85+ others(31): Show c.85+73406_85+73419delCTTTTCTTTTCTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69		chr8	TogoVar
CSMD2_chr1_33508998_34170230	33557617	GACACACA others(7): Show GACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0063 a0001c0001t0003g0063	1	66	0.0152	-14	c.874 others(31): Show c.8743+103_8743+116delGTGTGTGTGTGTGT	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	55/70		chr1	TogoVar
CSMD2_chr1_33508998_34170230	33707689	GCGCGCGC others(7): Show GCGCGCGCACACACA	G G	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02723.hp2 HG03453.hp2 others(1): Show HG01071.hp1 HG02723.hp2 HG03453.hp2 NA20805.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0003c0037 a0007c0024 a0001c0001 a0003c0037 a0007c0024	a0001c0001t0001 a0003c0037t0007 a0007c0024t0002 a0001c0001t0001 a0003c0037t0007 a0007c0024t0002	a0001c0001t0001g0033 a0001c0001t0001g0062 a0003c0037t0007g0038 others(1): Show a0001c0001t0001g0033 a0001c0001t0001g0062 a0003c0037t0007g0038 a0007c0024t0002g0057	4	66	0.0606	-14	c.357 others(33): Show c.3576+1386_3576+1399delTGTGTGTGCGCGCG	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	22/70		chr1	TogoVar
CSMD2_chr1_33508998_34170230	33774107	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01978.hp2 HG02055.hp1 others(12): Show HG01243.hp2 HG01978.hp2 HG02055.hp1 HG02080.hp1 HG02080.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG03017.hp2 HG03139.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 NA19030.hp2	a0003 a0004 a0008 others(6): Show a0003 a0004 a0008 a0014 a0016 a0020 a0021 a0026 a0028	a0003c0003 a0003c0035 a0004c0031 others(11): Show a0003c0003 a0003c0035 a0004c0031 a0004c0032 a0004c0049 a0004c0051 a0008c0021 a0008c0022 a0014c0036 a0016c0033 a0020c0054 a0021c0038 a0026c0023 a0028c0010	a0003c0003t0002 a0003c0003t0005 a0003c0035t0006 others(12): Show a0003c0003t0002 a0003c0003t0005 a0003c0035t0006 a0004c0031t0004 a0004c0032t0001 a0004c0049t0009 a0004c0051t0001 a0008c0021t0004 a0008c0022t0001 a0014c0036t0002 a0016c0033t0012 a0020c0054t0008 a0021c0038t0002 a0026c0023t0003 a0028c0010t0017	a0003c0003t0002g0009 a0003c0003t0005g0029 a0003c0035t0006g0006 others(12): Show a0003c0003t0002g0009 a0003c0003t0005g0029 a0003c0035t0006g0006 a0004c0031t0004g0005 a0004c0032t0001g0022 a0004c0049t0009g0012 a0004c0051t0001g0019 a0008c0021t0004g0023 a0008c0022t0001g0060 a0014c0036t0002g0044 a0016c0033t0012g0028 a0020c0054t0008g0030 a0021c0038t0002g0007 a0026c0023t0003g0039 a0028c0010t0017g0064	15	66	0.2273	-14	c.166 others(33): Show c.1664-1370_1664-1357delCACACACACACACA	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	12/70		chr1	TogoVar
CSMD2_chr1_33508998_34170230	33783431	TTCTCTCT others(7): Show TTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0003 a0006c0013t0003	a0006c0013t0003g0058 a0006c0013t0003g0058	1	66	0.0152	-14	c.166 others(33): Show c.1663+5155_1663+5168delGAGAGAGAGAGAGA	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	12/70		chr1	TogoVar
CSMD2_chr1_33508998_34170230	33952690	ACACACAC others(7): Show ACACACACACACATG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02922.hp1 HG03195.hp2 others(3): Show HG02809.hp1 HG02922.hp1 HG03195.hp2 HG03225.hp2 HG06807.hp2 NA19043.hp1	a0001 a0023 a0025 others(3): Show a0001 a0023 a0025 a0027 a0029 a0031	a0001c0026 a0023c0017 a0025c0011 others(3): Show a0001c0026 a0023c0017 a0025c0011 a0027c0018 a0029c0009 a0031c0007	a0001c0026t0003 a0023c0017t0016 a0025c0011t0001 others(3): Show a0001c0026t0003 a0023c0017t0016 a0025c0011t0001 a0027c0018t0001 a0029c0009t0018 a0031c0007t0002	a0001c0026t0003g0035 a0023c0017t0016g0066 a0025c0011t0001g0004 others(3): Show a0001c0026t0003g0035 a0023c0017t0016g0066 a0025c0011t0001g0004 a0027c0018t0001g0048 a0029c0009t0018g0065 a0031c0007t0002g0002	6	66	0.0909	-14	c.518 others(33): Show c.518-16750_518-16737delCATGTGTGTGTGTG	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	3/70		chr1	TogoVar
CSMD2_chr1_33508998_34170230	33989013	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03195.hp1 HG03209.hp1 others(3): Show HG02809.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 NA19043.hp2 NA20300.hp2	a0002 a0003 a0005 others(2): Show a0002 a0003 a0005 a0007 a0019	a0002c0002 a0002c0006 a0003c0048 others(3): Show a0002c0002 a0002c0006 a0003c0048 a0005c0012 a0007c0025 a0019c0030	a0002c0002t0010 a0002c0006t0004 a0003c0048t0006 others(3): Show a0002c0002t0010 a0002c0006t0004 a0003c0048t0006 a0005c0012t0001 a0007c0025t0001 a0019c0030t0003	a0002c0002t0010g0016 a0002c0006t0004g0052 a0003c0048t0006g0032 others(3): Show a0002c0002t0010g0016 a0002c0006t0004g0052 a0003c0048t0006g0032 a0005c0012t0001g0003 a0007c0025t0001g0042 a0019c0030t0003g0020	6	66	0.0909	-14	c.517 others(33): Show c.517+43567_517+43580delATATATATATATAT	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	3/70		chr1	TogoVar
CSMD2_chr1_33508998_34170230	34111982	TTCTCTCT others(7): Show TTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01074.hp1 HG01074.hp2 others(11): Show HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01192.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp2 HG03471.hp2 HG06807.hp1 NA20805.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0007 a0014 a0017 a0026 a0028	a0001c0001 a0002c0002 a0002c0005 others(10): Show a0001c0001 a0002c0002 a0002c0005 a0002c0027 a0003c0037 a0003c0050 a0004c0034 a0007c0024 a0007c0025 a0014c0036 a0017c0052 a0026c0023 a0028c0010	a0001c0001t0001 a0001c0001t0002 a0002c0002t0005 others(11): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0005 a0002c0005t0003 a0002c0027t0003 a0003c0037t0007 a0003c0050t0004 a0004c0034t0015 a0007c0024t0002 a0007c0025t0001 a0014c0036t0002 a0017c0052t0003 a0026c0023t0003 a0028c0010t0017	a0001c0001t0001g0062 a0001c0001t0002g0043 a0002c0002t0005g0036 others(11): Show a0001c0001t0001g0062 a0001c0001t0002g0043 a0002c0002t0005g0036 a0002c0005t0003g0056 a0002c0027t0003g0045 a0003c0037t0007g0038 a0003c0050t0004g0037 a0004c0034t0015g0015 a0007c0024t0002g0057 a0007c0025t0001g0042 a0014c0036t0002g0044 a0017c0052t0003g0040 a0026c0023t0003g0039 a0028c0010t0017g0064	14	66	0.2121	-14	c.188 others(33): Show c.188-22803_188-22790delGAGAGAGAGAGAGA	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	1/70		chr1	TogoVar
CSMD2_chr1_33508998_34170230	34125507	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02886.hp1 NA18906.hp1 HG01109.hp1 HG02886.hp1 NA18906.hp1	a0005 a0018 a0022 a0005 a0018 a0022	a0005c0020 a0018c0029 a0022c0019 a0005c0020 a0018c0029 a0022c0019	a0005c0020t0006 a0018c0029t0007 a0022c0019t0011 a0005c0020t0006 a0018c0029t0007 a0022c0019t0011	a0005c0020t0006g0046 a0018c0029t0007g0025 a0022c0019t0011g0017 a0005c0020t0006g0046 a0018c0029t0007g0025 a0022c0019t0011g0017	3	66	0.0455	-14	c.188 others(33): Show c.188-36328_188-36315delCACACACACACACA	CSMD2	ENSG00000121904.19	transcript	ENST00000373381.9	protein_coding	1/70		chr1	TogoVar
CSMD3_chr8_112217928_113441939	112220250	GACACAAA others(7): Show GACACAAATGGAAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0005 a0008c0014t0005	a0008c0014t0005g0040 a0008c0014t0005g0040	1	80	0.0125	-14	c.45 others(25): Show c.4507_*4520delTTTTCCATTTGTGT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding		2677	chr8	TogoVar
CSMD3_chr8_112217928_113441939	112270343	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA19030.hp1 NA19043.hp2 HG01109.hp1 NA19030.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0002c0003t0002 a0001c0001t0004 a0002c0003t0002	a0001c0001t0004g0015 a0001c0001t0004g0018 a0002c0003t0002g0051 a0001c0001t0004g0015 a0001c0001t0004g0018 a0002c0003t0002g0051	3	80	0.0375	-14	c.950 others(33): Show c.9509-4767_9509-4754delACACACACACACAC	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	59/70		chr8	TogoVar
CSMD3_chr8_112217928_113441939	112343003	ATATATAT others(7): Show ATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00741.hp2 HG01074.hp2 others(9): Show HG00438.hp1 HG00741.hp2 HG01074.hp2 HG01081.hp2 HG01175.hp2 HG01257.hp1 HG02895.hp1 HG02922.hp1 HG02976.hp1 HG03041.hp1 NA18944.hp1 NA19030.hp2	a0001 a0002 a0015 others(1): Show a0001 a0002 a0015 a0016	a0001c0001 a0001c0024 a0002c0003 others(4): Show a0001c0001 a0001c0024 a0002c0003 a0002c0010 a0002c0033 a0015c0031 a0016c0034	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0024t0002 a0002c0003t0002 a0002c0010t0002 a0002c0033t0002 a0015c0031t0002 a0016c0034t0002	a0001c0001t0001g0016 a0001c0001t0002g0014 a0001c0001t0002g0022 others(9): Show a0001c0001t0001g0016 a0001c0001t0002g0014 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0068 a0001c0001t0003g0010 a0001c0024t0002g0024 a0002c0003t0002g0006 a0002c0010t0002g0070 a0002c0033t0002g0029 a0015c0031t0002g0049 a0016c0034t0002g0011	12	80	0.1500	-14	c.644 others(33): Show c.6443-1331_6443-1318delAATATATATATATA	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	41/70		chr8	TogoVar
CSMD3_chr8_112217928_113441939	112361572	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02280.hp2 HG02735.hp2 others(4): Show HG01175.hp1 HG02280.hp2 HG02735.hp2 HG02809.hp1 HG03490.hp1 HG03688.hp2 NA19063.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0005 a0002c0010 a0001c0007 a0002c0005 a0002c0010	a0001c0007t0001 a0002c0005t0001 a0002c0010t0006 a0001c0007t0001 a0002c0005t0001 a0002c0010t0006	a0001c0007t0001g0012 a0001c0007t0001g0043 a0002c0005t0001g0027 others(4): Show a0001c0007t0001g0012 a0001c0007t0001g0043 a0002c0005t0001g0027 a0002c0005t0001g0033 a0002c0005t0001g0035 a0002c0005t0001g0036 a0002c0010t0006g0064	7	80	0.0875	-14	c.613 others(33): Show c.6137-9052_6137-9039delATATATATATATAT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	38/70		chr8	TogoVar
CSMD3_chr8_112217928_113441939	112491459	AGCCTGAG others(7): Show AGCCTGAGCAACATT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0014 a0014	a0014c0030 a0014c0030	a0014c0030t0001 a0014c0030t0001	a0014c0030t0001g0030 a0014c0030t0001g0030	1	80	0.0125	-14	c.527 others(33): Show c.5278+1016_5278+1029delAATGTTGCTCAGGC	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	31/70		chr8	TogoVar
CSMD3_chr8_112217928_113441939	112576831	CATACATA others(7): Show CATACATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00741.hp2 others(23): Show HG00423.hp1 HG00438.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG02258.hp2 HG02735.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03688.hp1 HG03688.hp2 HG04115.hp2 NA18944.hp1 NA18944.hp2 NA19043.hp1 NA19063.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0009 a0012 a0014 a0015 a0016	a0001c0001 a0001c0006 a0001c0007 others(15): Show a0001c0001 a0001c0006 a0001c0007 a0001c0019 a0001c0021 a0001c0024 a0002c0003 a0002c0005 a0002c0010 a0002c0011 a0002c0028 a0002c0033 a0003c0002 a0009c0018 a0012c0022 a0014c0030 a0015c0031 a0016c0034	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(17): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0006t0004 a0001c0007t0001 a0001c0019t0005 a0001c0021t0004 a0001c0024t0002 a0002c0003t0002 a0002c0005t0001 a0002c0010t0002 a0002c0011t0001 a0002c0028t0005 a0002c0033t0002 a0003c0002t0001 a0009c0018t0003 a0012c0022t0001 a0014c0030t0001 a0015c0031t0002 a0016c0034t0002	a0001c0001t0002g0014 a0001c0001t0002g0022 a0001c0001t0002g0025 others(23): Show a0001c0001t0002g0014 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0068 a0001c0001t0003g0023 a0001c0001t0004g0058 a0001c0006t0004g0060 a0001c0007t0001g0012 a0001c0019t0005g0065 a0001c0021t0004g0037 a0001c0024t0002g0024 a0002c0003t0002g0006 a0002c0003t0002g0051 a0002c0005t0001g0027 a0002c0005t0001g0033 a0002c0005t0001g0035 a0002c0010t0002g0070 a0002c0011t0001g0001 a0002c0028t0005g0078 a0002c0033t0002g0029 a0003c0002t0001g0075 a0009c0018t0003g0071 a0012c0022t0001g0013 a0014c0030t0001g0030 a0015c0031t0002g0049 a0016c0034t0002g0011	26	80	0.3250	-14	c.388 others(33): Show c.3886-3188_3886-3175delATATATATATGTAT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	23/70		chr8	TogoVar
CSMD3_chr8_112217928_113441939	112618380	TTAAGGAC others(7): Show TTAAGGACTGTACTG	T T	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0002 a0002	a0002c0033 a0002c0033	a0002c0033t0002 a0002c0033t0002	a0002c0033t0002g0029 a0002c0033t0002g0029	1	80	0.0125	-14	c.371 others(35): Show c.3715+18423_3715+18436delCAGTACAGTCCTTA	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	22/70		chr8	TogoVar
CSMD3_chr8_112217928_113441939	112630942	TCACACAC others(7): Show TCACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0005 a0008c0014t0005	a0008c0014t0005g0040 a0008c0014t0005g0040	1	80	0.0125	-14	c.371 others(33): Show c.3715+5861_3715+5874delTGTGTGTGTGTGTG	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	22/70		chr8	TogoVar
CSMD3_chr8_112217928_113441939	112827164	AATATATA others(7): Show AATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02257.hp2 HG02280.hp1 others(1): Show HG01261.hp2 HG02257.hp2 HG02280.hp1 HG03139.hp2	a0001 a0006 a0011 a0001 a0006 a0011	a0001c0001 a0006c0008 a0011c0035 a0001c0001 a0006c0008 a0011c0035	a0001c0001t0007 a0006c0008t0005 a0011c0035t0001 a0001c0001t0007 a0006c0008t0005 a0011c0035t0001	a0001c0001t0007g0041 a0006c0008t0005g0004 a0006c0008t0005g0005 others(1): Show a0001c0001t0007g0041 a0006c0008t0005g0004 a0006c0008t0005g0005 a0011c0035t0001g0003	4	80	0.0500	-14	c.185 others(33): Show c.1859+2508_1859+2521delATATATATATATAT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	12/70		chr8	TogoVar
CSMD3_chr8_112217928_113441939	112829885	GCACACAC others(7): Show GCACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02257.hp1 HG02258.hp2 others(4): Show HG01261.hp2 HG02257.hp1 HG02258.hp2 HG02559.hp2 HG02970.hp1 HG03516.hp2 NA19043.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0006 a0001c0019 others(3): Show a0001c0001 a0001c0006 a0001c0019 a0002c0027 a0002c0028 a0007c0009	a0001c0001t0004 a0001c0001t0007 a0001c0006t0004 others(4): Show a0001c0001t0004 a0001c0001t0007 a0001c0006t0004 a0001c0019t0005 a0002c0027t0003 a0002c0028t0005 a0007c0009t0001	a0001c0001t0004g0002 a0001c0001t0007g0041 a0001c0006t0004g0060 others(4): Show a0001c0001t0004g0002 a0001c0001t0007g0041 a0001c0006t0004g0060 a0001c0019t0005g0065 a0002c0027t0003g0047 a0002c0028t0005g0078 a0007c0009t0001g0048	7	80	0.0875	-14	c.175 others(30): Show c.1756-110_1756-97delTGTGTGTGTGTGTG	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	11/70		chr8	TogoVar
CSMD3_chr8_112217928_113441939	112897664	TTCTCTCT others(7): Show TTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0003 a0009c0018t0003	a0009c0018t0003g0071 a0009c0018t0003g0071	1	80	0.0125	-14	c.163 others(35): Show c.1633+23949_1633+23962delGAGAGAGAGAGAGA	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	10/70		chr8	TogoVar
CSMD3_chr8_112217928_113441939	112897682	CTCTCTCT others(7): Show CTCTCTCTCTCTCTG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0051 a0002c0003t0002g0051	1	80	0.0125	-14	c.163 others(35): Show c.1633+23931_1633+23944delCAGAGAGAGAGAGA	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	10/70		chr8	TogoVar
CSMD3_chr8_112217928_113441939	112920995	GCGCACAC others(7): Show GCGCACACACACACA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	80	0.0125	-14	c.163 others(31): Show c.1633+618_1633+631delTGTGTGTGTGTGCG	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	10/70		chr8	TogoVar
CSMD3_chr8_112217928_113441939	112920997	GCACACAC others(7): Show GCACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0023	1	80	0.0125	-14	c.163 others(31): Show c.1633+616_1633+629delTGTGTGTGTGTGTG	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	10/70		chr8	TogoVar
CSMD3_chr8_112217928_113441939	113024306	GTGTGTGT others(7): Show GTGTGTGTGTGTGTT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01261.hp2 HG03225.hp2 others(3): Show HG01109.hp1 HG01261.hp2 HG03225.hp2 HG03688.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0002c0003 a0003c0002 others(1): Show a0001c0001 a0002c0003 a0003c0002 a0007c0009	a0001c0001t0003 a0001c0001t0007 a0002c0003t0002 others(3): Show a0001c0001t0003 a0001c0001t0007 a0002c0003t0002 a0002c0003t0006 a0003c0002t0001 a0007c0009t0001	a0001c0001t0003g0044 a0001c0001t0007g0041 a0002c0003t0002g0051 others(3): Show a0001c0001t0003g0044 a0001c0001t0007g0041 a0002c0003t0002g0051 a0002c0003t0006g0061 a0003c0002t0001g0075 a0007c0009t0001g0069	6	80	0.0750	-14	c.918 others(31): Show c.918-5141_918-5128delAACACACACACACA	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	5/70		chr8	TogoVar
CSMD3_chr8_112217928_113441939	113112386	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03688.hp1 HG02809.hp2 HG03688.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0020 a0003c0002t0001g0075 a0003c0002t0001g0020 a0003c0002t0001g0075	2	80	0.0250	-14	c.710 others(33): Show c.710-13437_710-13424delATATATATATATAT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	4/70		chr8	TogoVar

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