Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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	status	chr	external
CEMIP2_chr9_71678366_71773513	71728227	CTCTCTAT others(57): Show CTCTCTATATATATATATATATATGTATATACACGTATATATATATATAT ATATGTATATATATA	C C	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0022 a0005c0004t0022	a0005c0004t0022g0003 a0005c0004t0022g0003	1	320	0.0031	-64	c.204 others(83): Show c.2049+1554_2049+1617delTATATATATACATATATATATATATA TATACGTGTATATACATATATATATATATATATAGAGA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728255	ATACACGT others(57): Show ATACACGTATATATATATATATATATGTATATATATATATATATATACAT ATATATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01167.hp1 HG01169.hp2 others(5): Show HG01070.hp1 HG01167.hp1 HG01169.hp2 HG01261.hp1 HG01981.hp2 HG03834.hp2 HG04115.hp2 NA20805.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0011 a0005c0004t0023 a0005c0004t0031 others(2): Show a0005c0004t0011 a0005c0004t0023 a0005c0004t0031 a0005c0004t0032 a0005c0004t0033	a0005c0004t0011g0005 a0005c0004t0011g0009 a0005c0004t0011g0010 others(5): Show a0005c0004t0011g0005 a0005c0004t0011g0009 a0005c0004t0011g0010 a0005c0004t0011g0014 a0005c0004t0023g0024 a0005c0004t0031g0004 a0005c0004t0032g0012 a0005c0004t0033g0011	8	320	0.0250	-64	c.204 others(83): Show c.2049+1526_2049+1589delCGTATATATATATATATGTATATATA TATATATATATACATATATATATATATATATACGTGTA	CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23			chr9	TogoVar
CES5A_chr16_55841154_55880373	55877217	CGGGTGGG others(57): Show CGGGTGGGGTGGGGAGCAAATATGAGAGGCTATGGATTTATTTGAAGTGA TTATGCTATCTAAAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0220 a0002c0003t0001g0220	1	449	0.0022	-64	c.-20 others(75): Show c.-2060_-1997delCTTTAGATAGCATAATCACTTCAAATAAATCCAT AGCCTCTCATATTTGCTCCCCACCCCACCC	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding		1845		chr16	TogoVar
CFAP20DC_chr3_58737008_59055025	58786839	TATGAACA others(57): Show TATGAACAGTATATTACTATAATTGTTCTATTTTATTATTATTCTTGTTA ATATCTTACTGTGTC	T T	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0017 a0001c0002t0002g0017	1	204	0.0049	-64	c.223 others(85): Show c.2237+19492_2237+19555delGACACAGTAAGATATTAACAAGAA TAATAATAAAATAGAACAATTATAGTAATATACTGTTCAT	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	15/16			chr3	TogoVar
CFAP221_chr2_119539449_119661661	119552287	TAATAAAT others(57): Show TAATAAATAGAAATATTTCTTTCTTTAATAAGAAATAAATAGAAATATTT CTTTCTTTAATAAGA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00733.hp2 HG01074.hp2 others(27): Show HG00597.hp2 HG00733.hp2 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01175.hp2 HG01346.hp2 HG01516.hp1 HG01978.hp1 HG02027.hp2 HG02809.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03516.hp2 HG03654.hp2 HG03704.hp1 NA18957.hp2 NA18961.hp1 NA18963.hp2 NA18965.hp1 NA18991.hp2 NA18994.hp1 NA19001.hp1 NA19005.hp2 NA19043.hp2 NA19066.hp2 NA19068.hp1 NA19084.hp1 NA19090.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0003c0003t0002 a0002c0002t0001 a0003c0003t0001 a0003c0003t0002	a0002c0002t0001g0036 a0002c0002t0001g0070 a0002c0002t0001g0071 others(27): Show a0002c0002t0001g0036 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0001g0085 a0003c0003t0001g0062 a0003c0003t0001g0067 a0003c0003t0001g0073 a0003c0003t0001g0074 a0003c0003t0001g0075 a0003c0003t0002g0041 a0003c0003t0002g0059 a0003c0003t0002g0060 a0003c0003t0002g0061 a0003c0003t0002g0063 a0003c0003t0002g0064 a0003c0003t0002g0065 a0003c0003t0002g0066 a0003c0003t0002g0068 a0003c0003t0002g0069 a0003c0003t0002g0076 a0003c0003t0002g0077 a0003c0003t0002g0078 a0003c0003t0002g0079 a0003c0003t0002g0080 a0003c0003t0002g0081 a0003c0003t0002g0083 a0003c0003t0002g0086	30	226	0.1327	-64	c.240 others(81): Show c.240+3508_240+3571delCTTTAATAAGAAATAAATAGAAATATTT CTTTCTTTAATAAGAAATAAATAGAAATATTTCTTT	CFAP221	ENSG00000163075.13	transcript	ENST00000413369.8	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr2	TogoVar
CFAP46_chr10_132803392_132947570	132946644	CAGGATCC others(57): Show CAGGATCCCAGGATCCCAGCACCCCAGCACCCCAGCACCCCAGCATCCCA GCACCCCAGCACCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 NA20905.hp2 HG02895.hp2 NA20905.hp2	a0012 a0071 a0012 a0071	a0012c0073 a0071c0098 a0012c0073 a0071c0098	a0012c0073t0002 a0071c0098t0002 a0012c0073t0002 a0071c0098t0002	a0012c0073t0002g0005 a0071c0098t0002g0023 a0012c0073t0002g0005 a0071c0098t0002g0023	2	246	0.0081	-64	c.-42 others(75): Show c.-4224_-4161delAGGGTGCTGGGGTGCTGGGATGCTGGGGTGCTGG GGTGCTGGGGTGCTGGGATCCTGGGATCCT	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding		4075		chr10	TogoVar
CFAP54_chr12_96484577_96880555	96664713	ATCTATAT others(57): Show ATCTATATATATCTATATATATATATCTATATATATATATATCTATATAT ATCTATATCTATATC	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01891.hp2 HG01975.hp1 others(3): Show HG01123.hp1 HG01891.hp2 HG01975.hp1 NA18990.hp1 NA19004.hp1 NA20129.hp1	a0003 a0015 a0036 others(1): Show a0003 a0015 a0036 a0046	a0003c0002 a0003c0072 a0015c0030 others(2): Show a0003c0002 a0003c0072 a0015c0030 a0036c0036 a0046c0053	a0003c0002t0001 a0003c0072t0001 a0015c0030t0003 others(2): Show a0003c0002t0001 a0003c0072t0001 a0015c0030t0003 a0036c0036t0001 a0046c0053t0001	a0003c0002t0001g0225 a0003c0002t0001g0241 a0003c0072t0001g0245 others(3): Show a0003c0002t0001g0225 a0003c0002t0001g0241 a0003c0072t0001g0245 a0015c0030t0003g0192 a0036c0036t0001g0041 a0046c0053t0001g0022	6	268	0.0224	-64	c.556 others(81): Show c.5563+783_5563+846delCTATATATATCTATATATATATATCTAT ATATATATATATCTATATATATCTATATCTATATCT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	39/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96664750	TATATCTA others(57): Show TATATCTATATATATCTATATCTATATCTATATATATATATATATATATA TATATATATATATAG	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0041 a0041	a0041c0038 a0041c0038	a0041c0038t0001 a0041c0038t0001	a0041c0038t0001g0191 a0041c0038t0001g0191	1	268	0.0037	-64	c.556 others(81): Show c.5563+823_5563+886delCTATATATATCTATATCTATATCTATAT ATATATATATATATATATATATATATATATAGATAT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	39/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP54_chr12_96484577_96880555	96664755	CTATATAT others(57): Show CTATATATATCTATATCTATATCTATATATATATATATATATATATATAT ATATATATAGATATA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02145.hp2 HG02602.hp1 others(6): Show HG00438.hp2 HG02145.hp2 HG02602.hp1 HG02622.hp1 HG03239.hp1 HG03654.hp1 NA18947.hp1 NA18995.hp1 NA19004.hp2	a0001 a0007 a0021 others(2): Show a0001 a0007 a0021 a0037 a0058	a0001c0001 a0001c0078 a0007c0019 others(3): Show a0001c0001 a0001c0078 a0007c0019 a0021c0027 a0037c0062 a0058c0084	a0001c0001t0001 a0001c0078t0001 a0007c0019t0001 others(3): Show a0001c0001t0001 a0001c0078t0001 a0007c0019t0001 a0021c0027t0001 a0037c0062t0001 a0058c0084t0001	a0001c0001t0001g0058 a0001c0001t0001g0069 a0001c0001t0001g0078 others(6): Show a0001c0001t0001g0058 a0001c0001t0001g0069 a0001c0001t0001g0078 a0001c0001t0001g0165 a0001c0078t0001g0075 a0007c0019t0001g0190 a0021c0027t0001g0049 a0037c0062t0001g0054 a0058c0084t0001g0129	9	268	0.0336	-64	c.556 others(81): Show c.5563+829_5563+892delATATCTATATCTATATCTATATATATAT ATATATATATATATATATATATATAGATATATATAT	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	39/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP97D2_chr13_114174257_114228085	114213821	GTGGAAGC others(57): Show GTGGAAGCTCCAGGACCACGAACCCCACCCCTGGACAAGCTCCAGGACCA CAAACCCCACCCCTA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01361.hp2 HG01993.hp1 others(10): Show HG00642.hp2 HG01361.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp2 HG02273.hp1 HG02273.hp2 HG03834.hp1 NA18954.hp1 NA18992.hp2 NA19063.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0010 a0001c0001t0006g0340 a0001c0001t0006g0341 others(8): Show a0001c0001t0006g0010 a0001c0001t0006g0340 a0001c0001t0006g0341 a0001c0001t0006g0342 a0001c0001t0006g0343 a0001c0001t0006g0344 a0001c0001t0006g0345 a0001c0001t0006g0346 a0001c0001t0006g0347 a0001c0001t0006g0348 a0001c0001t0006g0349	13	400	0.0325	-64	c.291 others(81): Show c.291-8661_291-8598delGAACCCCACCCCTGGACAAGCTCCAGGA CCACAAACCCCACCCCTATGGAAGCTCCAGGACCAC	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CHIC1_chrX_73558197_73692111	73655432	GTATATAT others(57): Show GTATATATATACATATATACACAATATTGTGTATATATATATACATATAT ACACAATATTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02809.hp1 HG03041.hp1 others(1): Show HG02615.hp2 HG02809.hp1 HG03041.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0005g0012 others(1): Show a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0013	4	208	0.0192	-64	c.508 others(83): Show c.508-23843_508-23780delCACAATATTGTGTATATATATATACA TATATACACAATATTGTGTATATATATATACATATATA	CHIC1	ENSG00000204116.12	transcript	ENST00000373502.10	protein_coding	3/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
CHIC1_chrX_73558197_73692111	73655483	CACAATAT others(57): Show CACAATATTGTGTATATATATATACATATATACACAATATTGTGTATATA TATATACATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02559.hp2 HG02818.hp2 others(3): Show HG01081.hp1 HG02559.hp2 HG02818.hp2 HG02970.hp2 HG03098.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0060 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0124	6	208	0.0289	-64	c.508 others(83): Show c.508-23823_508-23760delTATACATATATACACAATATTGTGTA TATATATATACATATATATACAATATTGTGTATATATA	CHIC1	ENSG00000204116.12	transcript	ENST00000373502.10	protein_coding	3/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
CHML_chr1_241623851_241645369	241623959	CTGGACCC others(57): Show CTGGACCCTCTTCCACCTGTCCTGCCTCTCCACGCCAGGCCAGGCACTCT ATGCTCCAGGCACTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	1	452	0.0022	-64	c.97 others(75): Show c.9773_*9836delCAGTGCCTGGAGCATAGAGTGCCTGGCCTGGCGT GGAGAGGCAGGACAGGTGGAAGAGGGTCCA	CHML	ENSG00000203668.3	transcript	ENST00000366553.3	protein_coding		4891		chr1	TogoVar
CHML_chr1_241623851_241645369	241624082	GCACTGTG others(57): Show GCACTGTGGACCCTCTTCCACCTGTCCTGCCTCCCCACGCCAGGCCAGGC ACTCTATGCTCCAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG03195.hp2 HG02976.hp1 HG03195.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0027 a0002c0003t0027	a0002c0003t0027g0041 a0002c0003t0027g0041	2	452	0.0044	-64	c.96 others(75): Show c.9650_*9713delTCTGGAGCATAGAGTGCCTGGCCTGGCGTGGGGA GGCAGGACAGGTGGAAGAGGGTCCACAGTG	CHML	ENSG00000203668.3	transcript	ENST00000366553.3	protein_coding		4768		chr1	TogoVar
CHML_chr1_241623851_241645369	241624202	TGCTCCAG others(57): Show TGCTCCAGACACTGTGGACCCTCTTTCACCTGTCCTGCCTCTCCACGCCA GGCCAGGCACTCTAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG01070.hp1 others(35): Show HG00639.hp2 HG00642.hp1 HG01070.hp1 HG01071.hp1 HG01123.hp2 HG01243.hp1 HG01256.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02257.hp2 HG02280.hp2 HG02559.hp2 HG02602.hp1 HG02723.hp1 HG02896.hp1 HG02965.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03486.hp1 HG03669.hp2 HG03834.hp2 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18946.hp2 NA18962.hp1 NA18965.hp2 NA18983.hp2 NA19003.hp2 NA19011.hp2 NA19080.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0007 a0001c0001 a0001c0002 a0006c0007	a0001c0001t0020 a0001c0001t0061 a0001c0002t0006 others(7): Show a0001c0001t0020 a0001c0001t0061 a0001c0002t0006 a0001c0002t0012 a0001c0002t0015 a0001c0002t0021 a0001c0002t0037 a0001c0002t0042 a0001c0002t0045 a0006c0007t0006	a0001c0001t0020g0023 a0001c0001t0061g0093 a0001c0002t0006g0013 others(9): Show a0001c0001t0020g0023 a0001c0001t0061g0093 a0001c0002t0006g0013 a0001c0002t0006g0015 a0001c0002t0012g0010 a0001c0002t0015g0017 a0001c0002t0015g0046 a0001c0002t0021g0025 a0001c0002t0037g0047 a0001c0002t0042g0053 a0001c0002t0045g0054 a0006c0007t0006g0030	38	452	0.0841	-64	c.95 others(75): Show c.9530_*9593delGTAGAGTGCCTGGCCTGGCGTGGAGAGGCAGGAC AGGTGAAAGAGGGTCCACAGTGTCTGGAGC	CHML	ENSG00000203668.3	transcript	ENST00000366553.3	protein_coding		4648		chr1	TogoVar
CHRNB4_chr15_78619111_78646210	78632213	CTCTTTCT others(57): Show CTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTT CTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	416	0.0024	-64	c.205 others(79): Show c.205-945_205-882delAAGAAAGAAAGAAAGAAAGAAAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGA	CHRNB4	ENSG00000117971.12	transcript	ENST00000261751.8	protein_coding	2/5			chr15	TogoVar
CHST8_chr19_33616953_33778506	33757387	GAAGAAAG others(57): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	254	0.0039	-64	c.131 others(83): Show c.131-13953_131-13890delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757462	GAAAGAAA others(57): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	254	0.0039	-64	c.131 others(83): Show c.131-13949_131-13886delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHTF18_chr16_783620_803074	795497	CAAACACA others(57): Show CAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAA ACACACTGCCCGTGT	C C	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02165.hp2 HG02083.hp2 HG02165.hp2	a0019 a0019	a0019c0019 a0019c0019	a0019c0019t0001 a0019c0019t0001	a0019c0019t0001g0094 a0019c0019t0001g0095 a0019c0019t0001g0094 a0019c0019t0001g0095	2	428	0.0047	-64	c.217 others(81): Show c.2175+142_2176-124delAAACACACTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21			chr16	TogoVar
CLPTM1L_chr5_1312752_1350099	1339414	CGGCCACA others(57): Show CGGCCACACAGACGGGCAAACTGTGCCCGGGACAGCAGGGTCAGCGCCCT AACCTGTGAACAGAT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02622.hp2 HG03209.hp1 others(1): Show HG02615.hp2 HG02622.hp2 HG03209.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0342 a0001c0001t0003g0343 a0001c0001t0003g0344 others(1): Show a0001c0001t0003g0342 a0001c0001t0003g0343 a0001c0001t0003g0344 a0001c0001t0003g0345	4	370	0.0108	-64	c.454 others(79): Show c.454-473_454-410delATCTGTTCACAGGTTAGGGCGCTGACCCTG CTGTCCCGGGCACAGTTTGCCCGTCTGTGTGGCC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	3/16			chr5	TogoVar
CMIP_chr16_81439808_81716762	81647919	GCACCCGC others(57): Show GCACCCGCAGAGCCGTAGCCCACCCTCCCCCCGCACCCGCAGAGCCGTAG CCCACCCTCCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03486.hp1 NA18906.hp2 HG03130.hp1 HG03486.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0029 a0001c0001t0001 a0001c0001t0029	a0001c0001t0001g0168 a0001c0001t0001g0200 a0001c0001t0029g0179 a0001c0001t0001g0168 a0001c0001t0001g0200 a0001c0001t0029g0179	3	268	0.0112	-64	c.478 others(81): Show c.478-4221_478-4158delCACACCCGCAGAGCCGTAGCCCACCCTC CCCCCGCACCCGCAGAGCCGTAGCCCACCCTCCCCC	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNNM4_chr2_96755902_96816874	96772609	GCACACAC others(57): Show GCACACACACTCATACCCCCACATAGGCACAGGCAGGCGCTCACACACAC ATGCGTGCACACACA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01106.hp2 HG04199.hp1 HG00323.hp1 HG01106.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0198 a0001c0001t0001g0240 a0001c0001t0001g0169 a0001c0001t0001g0198 a0001c0001t0001g0240	3	270	0.0111	-64	c.140 others(85): Show c.1402+10327_1402+10390delTGCACACACACACACACACTCATA CCCCCACATAGGCACAGGCAGGCGCTCACACACACATGCG	CNNM4	ENSG00000158158.12	transcript	ENST00000377075.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTN6_chr3_1088024_1409217	1244337	TGGGACTT others(57): Show TGGGACTTGCCGCTGAGGGTGAAGGAGAAGGGGTTGAGGGGTACTTGGCC CTGCCCCAGGAAAGC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00423.hp1 others(196): Show HG00140.hp1 HG00140.hp2 HG00423.hp1 HG00423.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18961.hp1 NA18961.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19065.hp1 NA19065.hp2 NA19084.hp1 NA19084.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(23): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0012 a0001c0013 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0023 a0001c0025 a0002c0011 a0002c0014 a0002c0017 a0003c0015 a0004c0016 a0005c0026 a0006c0027 a0007c0018	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0009 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0001c0005t0001 a0001c0005t0004 a0001c0006t0001 a0001c0006t0002 a0001c0006t0004 a0001c0007t0001 a0001c0007t0002 a0001c0007t0006 a0001c0008t0001 a0001c0009t0001 a0001c0009t0003 a0001c0010t0001 a0001c0012t0001 a0001c0013t0001 a0001c0019t0001 a0001c0020t0001 a0001c0021t0001 a0001c0022t0001 a0001c0023t0001 a0001c0025t0001 a0002c0011t0001 a0002c0014t0001 a0002c0017t0001 a0003c0015t0001 a0004c0016t0001 a0005c0026t0001 a0006c0027t0001 a0007c0018t0001	a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0027 others(196): Show a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0141 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0190 a0001c0001t0001g0198 a0001c0001t0001g0204 a0001c0001t0002g0124 a0001c0002t0001g0045 a0001c0002t0001g0053 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0068 a0001c0002t0001g0094 a0001c0002t0001g0098 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0125 a0001c0002t0001g0136 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0145 a0001c0002t0001g0147 a0001c0002t0001g0160 a0001c0002t0001g0174 a0001c0002t0001g0176 a0001c0002t0001g0209 a0001c0002t0001g0227 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0003g0079 a0001c0002t0004g0228 a0001c0002t0005g0050 a0001c0002t0008g0221 a0001c0002t0009g0205 a0001c0003t0001g0011 a0001c0003t0001g0025 a0001c0003t0001g0026 a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0040 a0001c0003t0001g0042 a0001c0003t0001g0064 a0001c0003t0001g0074 a0001c0003t0001g0076 a0001c0003t0001g0077 a0001c0003t0001g0081 a0001c0003t0001g0092 a0001c0003t0001g0101 a0001c0003t0001g0112 a0001c0003t0001g0118 a0001c0003t0001g0140 a0001c0003t0001g0142 a0001c0003t0001g0144 a0001c0003t0001g0154 a0001c0003t0001g0161 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0003t0001g0168 a0001c0003t0001g0172 a0001c0003t0001g0175 a0001c0003t0001g0177 a0001c0003t0001g0219 a0001c0003t0001g0224 a0001c0003t0001g0225 a0001c0003t0001g0226 a0001c0004t0001g0022 a0001c0004t0001g0023 a0001c0004t0001g0034 a0001c0004t0001g0055 a0001c0004t0001g0058 a0001c0004t0001g0060 a0001c0004t0001g0065 a0001c0004t0001g0066 a0001c0004t0001g0072 a0001c0004t0001g0080 a0001c0004t0001g0089 a0001c0004t0001g0103 a0001c0004t0001g0123 a0001c0004t0001g0128 a0001c0004t0001g0132 a0001c0004t0001g0158 a0001c0004t0002g0038 a0001c0004t0002g0039 a0001c0004t0005g0110 a0001c0005t0001g0004 a0001c0005t0001g0113 a0001c0005t0001g0157 a0001c0005t0001g0159 a0001c0005t0001g0163 a0001c0005t0001g0164 a0001c0005t0001g0181 a0001c0005t0001g0188 a0001c0005t0001g0189 a0001c0005t0001g0193 a0001c0005t0001g0196 a0001c0005t0001g0203 a0001c0005t0001g0207 a0001c0005t0004g0194 a0001c0006t0001g0028 a0001c0006t0001g0036 a0001c0006t0001g0037 a0001c0006t0001g0111 a0001c0006t0001g0162 a0001c0006t0001g0183 a0001c0006t0001g0184 a0001c0006t0001g0185 a0001c0006t0001g0187 a0001c0006t0001g0195 a0001c0006t0001g0200 a0001c0006t0001g0201 a0001c0006t0001g0210 a0001c0006t0001g0213 a0001c0006t0001g0216 a0001c0006t0001g0223 a0001c0006t0001g0229 a0001c0006t0002g0178 a0001c0006t0004g0119 a0001c0007t0001g0001 a0001c0007t0001g0012 a0001c0007t0001g0014 a0001c0007t0001g0015 a0001c0007t0001g0017 a0001c0007t0001g0048 a0001c0007t0001g0052 a0001c0007t0001g0100 a0001c0007t0001g0102 a0001c0007t0001g0133 a0001c0007t0001g0134 a0001c0007t0001g0135 a0001c0007t0001g0146 a0001c0007t0001g0155 a0001c0007t0001g0222 a0001c0007t0002g0032 a0001c0007t0006g0170 a0001c0008t0001g0010 a0001c0008t0001g0075 a0001c0008t0001g0143 a0001c0008t0001g0211 a0001c0008t0001g0212 a0001c0009t0001g0114 a0001c0009t0001g0150 a0001c0009t0003g0051 a0001c0010t0001g0009 a0001c0010t0001g0056 a0001c0010t0001g0206 a0001c0012t0001g0085 a0001c0012t0001g0104 a0001c0013t0001g0199 a0001c0013t0001g0208 a0001c0019t0001g0202 a0001c0020t0001g0151 a0001c0021t0001g0231 a0001c0022t0001g0137 a0001c0023t0001g0186 a0001c0025t0001g0192 a0002c0011t0001g0006 a0002c0011t0001g0217 a0002c0014t0001g0220 a0002c0014t0001g0232 a0002c0017t0001g0179 a0003c0015t0001g0007 a0003c0015t0001g0008 a0004c0016t0001g0002 a0004c0016t0001g0003 a0005c0026t0001g0091 a0006c0027t0001g0191 a0007c0018t0001g0148	199	232	0.8578	-64	c.358 others(83): Show c.358+16472_358+16535delCGGGACTTGCCGCTGAGGGTGAAGGA GAAGGGGTTGAGGGGTACTTGGCCCTGCCCCAGGAAAG	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTNAP2_chr7_146111801_148425998	146822864	TAAATATA others(57): Show TAAATATACTCATTCTTCAGCATATTTACATGGAAATATACTCATTCTTC AGCATATTTACATGG	T T	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA18522.hp2 NA21309.hp2 HG03239.hp1 NA18522.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0007 a0001c0001t0018 a0003c0007t0017 a0001c0001t0007 a0001c0001t0018 a0003c0007t0017	a0001c0001t0007g0018 a0001c0001t0018g0001 a0003c0007t0017g0031 a0001c0001t0007g0018 a0001c0001t0018g0001 a0003c0007t0017g0031	3	40	0.0750	-64	c.209 others(83): Show c.209-16571_209-16508delCATATTTACATGGAAATATACTCATT CTTCAGCATATTTACATGGAAATATACTCATTCTTCAG	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	146823155	ATATACTC others(57): Show ATATACTCATTCTTCAGCATATTTACATGGAAATATACTCATTCTTCAGT ATATTTAAATATGAG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02922.hp2 HG02976.hp1 others(2): Show HG02630.hp1 HG02922.hp2 HG02976.hp1 HG03139.hp1 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0008 a0001c0009 others(2): Show a0001c0004 a0001c0008 a0001c0009 a0001c0012 a0001c0015	a0001c0004t0005 a0001c0008t0001 a0001c0009t0019 others(2): Show a0001c0004t0005 a0001c0008t0001 a0001c0009t0019 a0001c0012t0004 a0001c0015t0001	a0001c0004t0005g0004 a0001c0008t0001g0025 a0001c0009t0019g0027 others(2): Show a0001c0004t0005g0004 a0001c0008t0001g0025 a0001c0009t0019g0027 a0001c0012t0004g0026 a0001c0015t0001g0011	5	40	0.1250	-64	c.209 others(83): Show c.209-16539_209-16476delCATATTTACATGGAAATATACTCATT CTTCAGTATATTTAAATATGAGTATACTCATTCTTCAG	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL18A1_chr21_45400165_45518720	45431363	GGGGCAGG others(57): Show GGGGCAGGCAGGACCCGGCGGCCCAGGGGAGGGGGGCAGGCAGGACCCGG CGGCCCAGGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	292	0.0034	-64	c.106 others(83): Show c.106+25954_106+26017delTGGGCAGGCAGGACCCGGCGGCCCAG GGGAGGGGGGCAGGCAGGACCCGGCGGCCCAGGGGAGG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL23A1_chr5_178232618_178595393	178547479	ACACACAC others(57): Show ACACACACACCCACACATCCCCATACACACCCCCACACCCACACACTCAC ACCCACAAACACACC	A A	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0180 a0002c0002t0001g0180	1	236	0.0042	-64	c.361 others(83): Show c.361+13139_361+13202delGGTGTGTTTGTGGGTGTGAGTGTGTG GGTGTGGGGGTGTGTATGGGGATGTGTGGGTGTGTGTG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL26A1_chr7_101357875_101564024	101417610	ATATATCT others(57): Show ATATATCTAGACATAGATATAGAGATATATCTCTATATCTAGACATAGAT ATAGAGATATATCTC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(92): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01515.hp1 HG01515.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02698.hp1 HG02698.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18947.hp2 NA18955.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18970.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA19005.hp2 NA19043.hp1 NA19054.hp2 NA19063.hp1 NA19063.hp2 NA19080.hp2 NA19081.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0001 a0001c0002 a0001c0005 others(10): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0001c0009 a0001c0012 a0001c0013 a0002c0003 a0002c0004 a0002c0006 a0002c0007 a0006c0016 a0007c0019	a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 others(23): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0002t0003 a0001c0002t0006 a0001c0002t0016 a0001c0002t0018 a0001c0005t0002 a0001c0008t0007 a0001c0009t0003 a0001c0009t0006 a0001c0009t0013 a0001c0012t0010 a0001c0013t0010 a0002c0003t0001 a0002c0003t0025 a0002c0004t0001 a0002c0004t0024 a0002c0006t0004 a0002c0006t0021 a0002c0007t0004 a0006c0016t0004 a0007c0019t0028	a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0111 others(92): Show a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0151 a0001c0001t0002g0173 a0001c0001t0005g0059 a0001c0001t0005g0079 a0001c0001t0005g0134 a0001c0001t0005g0135 a0001c0001t0005g0137 a0001c0001t0005g0139 a0001c0001t0009g0152 a0001c0001t0009g0153 a0001c0001t0011g0108 a0001c0001t0014g0109 a0001c0001t0014g0142 a0001c0001t0015g0127 a0001c0002t0003g0015 a0001c0002t0003g0021 a0001c0002t0003g0023 a0001c0002t0003g0025 a0001c0002t0003g0029 a0001c0002t0003g0031 a0001c0002t0003g0040 a0001c0002t0003g0047 a0001c0002t0003g0048 a0001c0002t0003g0049 a0001c0002t0003g0050 a0001c0002t0003g0051 a0001c0002t0003g0052 a0001c0002t0003g0054 a0001c0002t0003g0056 a0001c0002t0003g0057 a0001c0002t0006g0003 a0001c0002t0006g0022 a0001c0002t0006g0034 a0001c0002t0016g0030 a0001c0002t0018g0045 a0001c0005t0002g0155 a0001c0008t0007g0069 a0001c0008t0007g0075 a0001c0008t0007g0076 a0001c0008t0007g0077 a0001c0008t0007g0078 a0001c0008t0007g0121 a0001c0009t0003g0026 a0001c0009t0006g0019 a0001c0009t0013g0014 a0001c0012t0010g0002 a0001c0012t0010g0027 a0001c0013t0010g0028 a0001c0013t0010g0039 a0002c0003t0001g0068 a0002c0003t0001g0088 a0002c0003t0001g0110 a0002c0003t0001g0123 a0002c0003t0001g0130 a0002c0003t0001g0140 a0002c0003t0001g0141 a0002c0003t0001g0143 a0002c0003t0001g0164 a0002c0003t0025g0126 a0002c0004t0001g0070 a0002c0004t0001g0129 a0002c0004t0001g0131 a0002c0004t0001g0150 a0002c0004t0001g0156 a0002c0004t0001g0157 a0002c0004t0024g0095 a0002c0006t0004g0011 a0002c0006t0004g0013 a0002c0006t0004g0016 a0002c0006t0004g0024 a0002c0006t0004g0032 a0002c0006t0004g0033 a0002c0006t0004g0042 a0002c0006t0004g0043 a0002c0006t0004g0044 a0002c0006t0004g0055 a0002c0006t0021g0017 a0002c0007t0004g0009 a0002c0007t0004g0018 a0002c0007t0004g0020 a0002c0007t0004g0037 a0002c0007t0004g0046 a0002c0007t0004g0053 a0006c0016t0004g0035 a0007c0019t0028g0162	95	174	0.5460	-64	c.159 others(81): Show c.159-2335_159-2272delCTATATCTAGACATAGATATAGAGATAT ATCTCTATATCTAGACATAGATATAGAGATATATCT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL26A1_chr7_101357875_101564024	101489650	TTTCTTTC others(57): Show TTTCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTG TCTTTCTTTCTTTCA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0144 a0001c0005t0005g0144	1	174	0.0058	-64	c.385 others(83): Show c.385+41876_385+41939delTCCTTCCTTCCTTCCTTCCTTTCTTT CTTTCTTTCTGTCTTTCTTTCTTTCATTCTTTCTTTCT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL2A1_chr12_47967967_48009476	47971790	TTATTATA others(57): Show TTATTATATTGTATAATAATATATGTATATATTATTATATTGTATAATAA TATATGTATATATTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00544.hp1 others(92): Show HG00280.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG00733.hp1 HG01168.hp2 HG01496.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02080.hp1 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02735.hp2 HG03017.hp1 HG03669.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18947.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp2 NA18957.hp1 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18971.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18984.hp2 NA18986.hp1 NA18988.hp1 NA18994.hp1 NA18997.hp2 NA18998.hp2 NA19001.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19090.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0008 a0014 a0016	a0001c0003 a0002c0001 a0004c0007 others(7): Show a0001c0003 a0002c0001 a0004c0007 a0004c0010 a0004c0015 a0004c0017 a0004c0049 a0008c0024 a0014c0034 a0016c0029	a0001c0003t0001 a0002c0001t0001 a0002c0001t0002 others(12): Show a0001c0003t0001 a0002c0001t0001 a0002c0001t0002 a0002c0001t0005 a0002c0001t0010 a0004c0007t0001 a0004c0010t0001 a0004c0015t0001 a0004c0015t0006 a0004c0017t0001 a0004c0017t0012 a0004c0049t0001 a0008c0024t0002 a0014c0034t0002 a0016c0029t0002	a0001c0003t0001g0025 a0001c0003t0001g0209 a0001c0003t0001g0253 others(53): Show a0001c0003t0001g0025 a0001c0003t0001g0209 a0001c0003t0001g0253 a0001c0003t0001g0262 a0001c0003t0001g0267 a0002c0001t0001g0016 a0002c0001t0001g0117 a0002c0001t0001g0118 a0002c0001t0001g0121 a0002c0001t0001g0122 a0002c0001t0001g0124 a0002c0001t0002g0001 a0002c0001t0002g0004 a0002c0001t0002g0015 a0002c0001t0002g0072 a0002c0001t0002g0075 a0002c0001t0002g0078 a0002c0001t0002g0080 a0002c0001t0002g0083 a0002c0001t0002g0086 a0002c0001t0002g0089 a0002c0001t0002g0091 a0002c0001t0002g0092 a0002c0001t0002g0095 a0002c0001t0002g0097 a0002c0001t0002g0103 a0002c0001t0002g0105 a0002c0001t0002g0107 a0002c0001t0002g0108 a0002c0001t0002g0109 a0002c0001t0002g0111 a0002c0001t0005g0013 a0002c0001t0010g0090 a0004c0007t0001g0024 a0004c0007t0001g0054 a0004c0007t0001g0140 a0004c0007t0001g0144 a0004c0007t0001g0217 a0004c0007t0001g0238 a0004c0007t0001g0248 a0004c0007t0001g0254 a0004c0007t0001g0264 a0004c0010t0001g0037 a0004c0010t0001g0050 a0004c0010t0001g0160 a0004c0010t0001g0224 a0004c0015t0001g0047 a0004c0015t0001g0258 a0004c0015t0006g0265 a0004c0017t0001g0138 a0004c0017t0012g0177 a0004c0049t0001g0261 a0008c0024t0002g0077 a0008c0024t0002g0085 a0014c0034t0002g0084 a0016c0029t0002g0058	95	414	0.2295	-64	c.15 others(75): Show c.1553_*1616delTAATATATACATATATTATTATACAATATAATAA TATATACATATATTATTATACAATATAATA	COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding		1176		chr12	TogoVar
COL4A1_chr13_110143963_110312157	110219824	ATATGTAT others(57): Show ATATGTATGTATGTATATATGTGTATATATATGTATATATGTGTGTGTAT ATATGTATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01928.hp1 HG01993.hp1 others(3): Show HG00642.hp1 HG01928.hp1 HG01993.hp1 HG02293.hp2 HG04204.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0001c0010 a0002c0028 others(2): Show a0001c0006 a0001c0010 a0002c0028 a0002c0040 a0002c0044	a0001c0006t0001 a0001c0010t0001 a0002c0028t0003 others(3): Show a0001c0006t0001 a0001c0010t0001 a0002c0028t0003 a0002c0028t0004 a0002c0040t0002 a0002c0044t0001	a0001c0006t0001g0057 a0001c0010t0001g0150 a0002c0028t0003g0264 others(3): Show a0001c0006t0001g0057 a0001c0010t0001g0150 a0002c0028t0003g0264 a0002c0028t0004g0340 a0002c0040t0002g0339 a0002c0044t0001g0209	6	344	0.0174	-64	c.145 others(81): Show c.145-5873_145-5810delCATATATATACATATATACACACACATA TATACATATATATACACATATATACATACATACATA	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	2/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110253637	TGTATGTA others(57): Show TGTATGTATTACATATACGTATAATTATATGTGTATGTATGTATTACATA TACATATAATTATAC	T T	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0118 a0001c0003t0001g0118	1	344	0.0029	-64	c.85- others(81): Show c.85-10967_85-10904delGTATAATTATATGTATATGTAATACATA CATACACATATAATTATACGTATATGTAATACATAC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355683	TGGAGGGC others(57): Show TGGAGGGCTGTACAGCTCACCTGTGTGAGTGGGGAGGGCTGCACTAGCTC ACCTGTGTGTGTGGG	T T	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0098 a0001c0001t0003g0098	1	372	0.0027	-64	c.100 others(81): Show c.100-1779_100-1716delTACAGCTCACCTGTGTGAGTGGGGAGGG CTGCACTAGCTCACCTGTGTGTGTGGGGGAGGGCTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110493085	GAAATAAC others(57): Show GAAATAACGATGAGTGACACCCCCATGGGTGAAATAACGATGAGTGACAC CCCCGCAGGTGAAAT	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03225.hp1 HG03579.hp1 others(1): Show HG03041.hp1 HG03225.hp1 HG03579.hp1 NA19030.hp1	a0002 a0003 a0002 a0003	a0002c0019 a0002c0091 a0002c0113 others(1): Show a0002c0019 a0002c0091 a0002c0113 a0003c0116	a0002c0019t0006 a0002c0091t0001 a0002c0113t0008 others(1): Show a0002c0019t0006 a0002c0091t0001 a0002c0113t0008 a0003c0116t0022	a0002c0019t0006g0131 a0002c0091t0001g0210 a0002c0113t0008g0040 others(1): Show a0002c0019t0006g0131 a0002c0091t0001g0210 a0002c0113t0008g0040 a0003c0116t0022g0367	4	372	0.0108	-64	c.356 others(80): Show c.3563-102_3563-39delATGGGTGAAATAACGATGAGTGACACCCC CGCAGGTGAAATAAATAACGATGAGTGACACCCCC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	38/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A3_chr2_227159624_227319792	227202862	CATATATG others(57): Show CATATATGTGTATATATACATATGTGTATATATGTGTATATATGTGTATA TATACATATATGTGT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0025 a0025	a0025c0043 a0025c0043	a0025c0043t0012 a0025c0043t0012	a0025c0043t0012g0233 a0025c0043t0012g0233	1	344	0.0029	-64	c.88- others(81): Show c.88-35089_88-35026delACATATGTGTATATATGTGTATATATGT GTATATATACATATATGTGTATATATGTGTATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL5A1_chr9_134636803_134849843	134679394	TGGGGCTT others(57): Show TGGGGCTTCTTAGGGGGCACTGTGGGGCTGGTTGGGGGCACTGTGGGGCT GGTTGGGGGCACTGC	T T	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0175 a0001c0001t0002g0176	2	272	0.0074	-64	c.110 others(83): Show c.110-11485_110-11422delGGGGGCACTGTGGGGCTGGTTGGGGG CACTGCGGGGCTTCTTAGGGGGCACTGTGGGGCTGGTT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134805813	GGGGTGCC others(57): Show GGGGTGCCCCGTGGGCTCTAGAGGGAAGGGGGTGCCTCACAGACATGTGG GCCCTGGAGGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG02004.hp2 others(7): Show HG00438.hp1 HG00438.hp2 HG02004.hp2 HG02273.hp2 HG02622.hp1 NA18966.hp1 NA18970.hp1 NA18983.hp2 NA19057.hp1 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0001c0049 others(1): Show a0001c0001 a0001c0008 a0001c0049 a0002c0013	a0001c0001t0002 a0001c0001t0005 a0001c0008t0002 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0008t0002 a0001c0049t0003 a0002c0013t0003 a0002c0013t0021	a0001c0001t0002g0023 a0001c0001t0002g0069 a0001c0001t0002g0116 others(7): Show a0001c0001t0002g0023 a0001c0001t0002g0069 a0001c0001t0002g0116 a0001c0001t0002g0220 a0001c0001t0002g0227 a0001c0001t0005g0155 a0001c0008t0002g0092 a0001c0049t0003g0183 a0002c0013t0003g0076 a0002c0013t0021g0071	10	272	0.0368	-64	c.325 others(81): Show c.3259-360_3259-297delTCTAGAGGGAAGGGGGTGCCTCACAGAC ATGTGGGCCCTGGAGGAGAGAGGGTGCCCCGTGGGC	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	41/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COMMD9_chr11_36267292_36294424	36286947	ACTGTCAA others(57): Show ACTGTCAATATCAATACTTTTGACATTAGGTATTGACATCCATTTATCCT TTACCCAATTTCCCC	A A	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0142 a0001c0001t0005g0142	1	448	0.0022	-64	c.51+ others(79): Show c.51+2351_51+2414delGGGGAAATTGGGTAAAGGATAAATGGATGT CAATACCTAATGTCAAAAGTATTGATATTGACAG	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COQ8A_chr1_226935294_226992544	226976155	ACTGCGAT others(57): Show ACTGCGATGTTGCCTGGCTGCGGGGCTGCGGGACTGCGGGGCTGTGGGAC TGCGATGTTGCCTGG	A A	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0253 a0001c0001t0002g0253	1	412	0.0024	-64	c.656 others(81): Show c.656-1288_656-1225delATGTTGCCTGGCTGCGGGGCTGCGGGAC TGCGGGGCTGTGGGACTGCGATGTTGCCTGGCTGCG	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
COQ8A_chr1_226935294_226992544	226976171	GCTGCGGG others(57): Show GCTGCGGGGCTGCGGGACTGCGGGGCTGTGGGACTGCGATGTTGCCTGGC TGCGGGGCTGTGGGA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	412	0.0024	-64	c.656 others(81): Show c.656-1266_656-1203delCGGGACTGCGGGGCTGTGGGACTGCGAT GTTGCCTGGCTGCGGGGCTGTGGGACTGCGGGGCTG	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
CORO2A_chr9_98115975_98197637	98190291	GATCATTT others(57): Show GATCATTTTCATGATAACAGGCTGCCAGGTTGCTCTGCAAAATTAAATGC CACAGGCGAATCCCT	G G	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0267 a0001c0001t0002g0267	1	342	0.0029	-64	c.-1+ others(79): Show c.-1+2204_-1+2267delAGGGATTCGCCTGTGGCATTTAATTTTGCA GAGCAACCTGGCAGCCTGTTATCATGAAAATGAT	CORO2A	ENSG00000106789.13	transcript	ENST00000375077.5	protein_coding	1/11			chr9	TogoVar
CPNE7_chr16_89570758_89602246	89588068	CCCGTGTT others(57): Show CCCGTGTTACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGG CCCCCGTGTCACCCG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01081.hp1 HG02451.hp2 others(3): Show HG00639.hp1 HG01081.hp1 HG02451.hp2 HG02622.hp1 NA18944.hp2 NA18995.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0012 others(1): Show a0001c0001 a0001c0002 a0001c0012 a0007c0022	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0012t0002 a0007c0022t0004	a0001c0001t0001g0252 a0001c0001t0001g0261 a0001c0002t0001g0287 others(3): Show a0001c0001t0001g0252 a0001c0001t0001g0261 a0001c0002t0001g0287 a0001c0002t0003g0211 a0001c0012t0002g0297 a0007c0022t0004g0288	6	348	0.0172	-64	c.928 others(79): Show c.928-605_928-542delCGTGTTACCCACAGATACACGGCCCCCGTG TCACCCACAGATACACGGCCCCCGTGTCACCCGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CRLF2_chrX_1185490_1217649	1211649	ATGGATAA others(57): Show ATGGATAAGTGGATAAAAGTGTGGGTGAATGCATGGATGGATGGATGTAT TGGTGGATGGATGGG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0096 a0001c0002t0002g0096	1	167	0.0060	-64	c.79+ others(77): Show c.79+843_79+906delCCCATCCATCCACCAATACATCCATCCATCCA TGCATTCACCCACACTTTTATCCACTTATCCA	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	1/7			chrX	TogoVar
CROCC2_chr2_240901336_240998311	240985115	ACCCAGGC others(57): Show ACCCAGGCACTCACTCCACACACACCCAGGCACTCACTCCACACACACAC CCAGGCTCTCACTCC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01358.hp2 HG01516.hp2 others(4): Show HG00423.hp2 HG01358.hp2 HG01516.hp2 HG02300.hp1 NA18944.hp2 NA18970.hp1 NA20129.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0011 a0003c0003 a0002c0002 a0002c0011 a0003c0003	a0002c0002t0001 a0002c0002t0002 a0002c0011t0002 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0011t0002 a0003c0003t0001	a0002c0002t0001g0146 a0002c0002t0002g0253 a0002c0002t0002g0276 others(4): Show a0002c0002t0001g0146 a0002c0002t0002g0253 a0002c0002t0002g0276 a0002c0002t0002g0325 a0002c0011t0002g0305 a0003c0003t0001g0021 a0003c0003t0001g0045	7	350	0.0200	-64	c.455 others(83): Show c.4551+2087_4551+2150delCCCAGGCACTCACTCCACACACACCC AGGCACTCACTCCACACACACACCCAGGCTCTCACTCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	28/31			chr2	TogoVar
CRTAC1_chr10_97860000_98035621	97900484	CCTTTTCC others(57): Show CCTTTTCCTGGTAGTGATTGGAGCCCGTAGCCCCTTTTCCTGGTAGTGAT TGGACCCCATAGCCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00621.hp1 HG00642.hp1 others(57): Show HG00280.hp1 HG00621.hp1 HG00642.hp1 HG01243.hp1 HG01361.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG02055.hp2 HG02071.hp1 HG02109.hp2 HG02257.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02970.hp1 HG02976.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03516.hp2 HG03540.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18971.hp2 NA18972.hp2 NA19000.hp1 NA19005.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0013 a0002c0005 a0002c0008 a0004c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0004t0006 a0001c0013t0001 a0002c0005t0001 a0002c0008t0001 a0004c0017t0004	a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0026 others(57): Show a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0026 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0059 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0088 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0114 a0001c0001t0001g0124 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0002g0029 a0001c0001t0002g0037 a0001c0001t0002g0080 a0001c0001t0003g0162 a0001c0002t0001g0018 a0001c0002t0001g0022 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0117 a0001c0002t0001g0119 a0001c0002t0002g0021 a0001c0003t0001g0016 a0001c0003t0002g0015 a0001c0004t0001g0003 a0001c0004t0001g0023 a0001c0004t0001g0024 a0001c0004t0001g0025 a0001c0004t0001g0107 a0001c0004t0001g0108 a0001c0004t0001g0149 a0001c0004t0001g0154 a0001c0004t0001g0159 a0001c0004t0002g0004 a0001c0004t0002g0106 a0001c0004t0006g0126 a0001c0013t0001g0006 a0002c0005t0001g0186 a0002c0008t0001g0112 a0002c0008t0001g0115 a0004c0017t0004g0030	60	204	0.2941	-64	c.113 others(82): Show c.1133+955_1133+1018delAGGCTATGGGGTCCAATCACTACCAGG AAAAGGGGCTACGGGCTCCAATCACTACCAGGAAAAG	CRTAC1	ENSG00000095713.14	transcript	ENST00000370597.8	protein_coding	8/14			chr10	TogoVar
CRTAC1_chr10_97860000_98035621	97900701	TGTAGCCC others(57): Show TGTAGCCCCTTTTCCTGGTAGTGATTGGACCCCGTAGCCCCTTTTCCTGG TAGTGATTGGAGCCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00621.hp1 HG00642.hp1 others(33): Show HG00280.hp1 HG00621.hp1 HG00642.hp1 HG01361.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG02055.hp2 HG02257.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02896.hp1 HG03195.hp1 HG03209.hp1 HG03471.hp1 HG03490.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG04199.hp2 HG04228.hp2 NA18941.hp2 NA18972.hp2 NA19000.hp1 NA19005.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0002c0005 a0002c0008 a0004c0017	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0004t0001 a0001c0004t0002 a0001c0004t0006 a0002c0005t0001 a0002c0008t0001 a0004c0017t0004	a0001c0001t0001g0011 a0001c0001t0001g0048 a0001c0001t0001g0059 others(33): Show a0001c0001t0001g0011 a0001c0001t0001g0048 a0001c0001t0001g0059 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0088 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0114 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0193 a0001c0001t0002g0029 a0001c0002t0001g0018 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0117 a0001c0002t0001g0119 a0001c0004t0001g0023 a0001c0004t0001g0024 a0001c0004t0001g0025 a0001c0004t0001g0107 a0001c0004t0001g0108 a0001c0004t0001g0149 a0001c0004t0001g0154 a0001c0004t0001g0159 a0001c0004t0002g0004 a0001c0004t0002g0106 a0001c0004t0006g0126 a0002c0005t0001g0186 a0002c0008t0001g0112 a0002c0008t0001g0115 a0004c0017t0004g0030	36	204	0.1765	-64	c.113 others(81): Show c.1133+738_1133+801delGGGCTCCAATCACTACCAGGAAAAGGGG CTACGGGGTCCAATCACTACCAGGAAAAGGGGCTAC	CRTAC1	ENSG00000095713.14	transcript	ENST00000370597.8	protein_coding	8/14			chr10	TogoVar
CSGALNACT1_chr8_19399161_19762277	19484171	CCTAAGCA others(57): Show CCTAAGCACAAGGGGAGTGATATAGCAATTCAGATACACCAAAGAGAAGC CATAAAGAGCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp1 HG00738.hp2 others(28): Show HG00642.hp1 HG00733.hp1 HG00738.hp2 HG01074.hp2 HG01192.hp2 HG01258.hp2 HG01261.hp2 HG01515.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02559.hp1 HG02630.hp2 HG02698.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp2 HG04115.hp1 HG04199.hp2 NA19043.hp1 NA20752.hp1 NA20905.hp2	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0013	a0001c0001 a0001c0002 a0001c0007 others(3): Show a0001c0001 a0001c0002 a0001c0007 a0002c0003 a0009c0020 a0013c0014	a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 others(10): Show a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0014 a0001c0002t0022 a0001c0002t0044 a0001c0007t0031 a0002c0003t0005 a0002c0003t0007 a0002c0003t0020 a0009c0020t0030 a0013c0014t0006	a0001c0001t0005g0187 a0001c0002t0001g0115 a0001c0002t0002g0008 others(28): Show a0001c0001t0005g0187 a0001c0002t0001g0115 a0001c0002t0002g0008 a0001c0002t0002g0027 a0001c0002t0002g0067 a0001c0002t0002g0084 a0001c0002t0002g0103 a0001c0002t0002g0130 a0001c0002t0002g0132 a0001c0002t0002g0164 a0001c0002t0002g0234 a0001c0002t0002g0236 a0001c0002t0006g0017 a0001c0002t0006g0045 a0001c0002t0006g0047 a0001c0002t0014g0120 a0001c0002t0022g0169 a0001c0002t0044g0186 a0001c0007t0031g0029 a0002c0003t0005g0018 a0002c0003t0005g0043 a0002c0003t0005g0100 a0002c0003t0005g0113 a0002c0003t0005g0190 a0002c0003t0007g0128 a0002c0003t0007g0176 a0002c0003t0007g0179 a0002c0003t0020g0078 a0002c0003t0020g0101 a0009c0020t0030g0182 a0013c0014t0006g0230	31	238	0.1303	-64	c.634 others(83): Show c.634+20966_634+21029delAGGAAGCTCTTTATGGCTTCTCTTTG GTGTATCTGAATTGCTATATCACTCCCCTTGTGCTTAG	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3671481	ACTCATAT others(57): Show ACTCATATATATGATCATATATATATATATATGATCATATATATGATCAT ATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01074.hp1 HG01081.hp1 others(64): Show HG00099.hp1 HG01074.hp1 HG01081.hp1 HG01123.hp1 HG01123.hp2 HG01243.hp2 HG01255.hp1 HG01261.hp2 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG02055.hp2 HG02056.hp2 HG02129.hp1 HG02129.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02683.hp2 HG02723.hp1 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03710.hp2 HG03834.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18979.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18995.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19060.hp2 NA19074.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1	a0001 a0002 a0003 others(24): Show a0001 a0002 a0003 a0004 a0007 a0008 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0019 a0020 a0022 a0024 a0026 a0027 a0028 a0029 a0031 a0032 a0035 a0037 a0038 a0039	a0001c0001 a0001c0002 a0001c0003 others(61): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0019 a0001c0026 a0001c0033 a0001c0039 a0001c0040 a0001c0043 a0001c0045 a0001c0050 a0001c0071 a0001c0085 a0001c0090 a0001c0103 a0001c0105 a0001c0114 a0002c0015 a0002c0022 a0002c0030 a0002c0031 a0002c0032 a0002c0035 a0002c0036 a0002c0037 a0002c0048 a0002c0053 a0002c0054 a0002c0060 a0002c0072 a0002c0075 a0003c0014 a0003c0057 a0003c0058 a0004c0099 a0007c0029 a0007c0088 a0008c0008 a0008c0067 a0011c0110 a0012c0104 a0013c0027 a0014c0010 a0015c0062 a0016c0063 a0017c0106 a0019c0018 a0020c0024 a0022c0013 a0024c0038 a0026c0082 a0027c0023 a0028c0097 a0029c0028 a0031c0069 a0032c0011 a0035c0098 a0037c0101 a0038c0066 a0039c0009	a0001c0001t0002 a0001c0002t0028 a0001c0002t0061 others(64): Show a0001c0001t0002 a0001c0002t0028 a0001c0002t0061 a0001c0003t0008 a0001c0003t0013 a0001c0003t0019 a0001c0004t0020 a0001c0005t0002 a0001c0006t0002 a0001c0007t0032 a0001c0019t0078 a0001c0026t0006 a0001c0033t0003 a0001c0039t0066 a0001c0040t0019 a0001c0043t0031 a0001c0045t0012 a0001c0050t0053 a0001c0071t0069 a0001c0085t0020 a0001c0090t0001 a0001c0103t0033 a0001c0105t0001 a0001c0114t0003 a0002c0015t0021 a0002c0022t0036 a0002c0030t0016 a0002c0031t0015 a0002c0032t0050 a0002c0035t0047 a0002c0036t0029 a0002c0037t0009 a0002c0048t0013 a0002c0053t0022 a0002c0054t0079 a0002c0060t0006 a0002c0072t0003 a0002c0075t0026 a0003c0014t0055 a0003c0057t0080 a0003c0058t0057 a0004c0099t0014 a0007c0029t0011 a0007c0088t0076 a0008c0008t0082 a0008c0067t0059 a0011c0110t0074 a0012c0104t0071 a0013c0027t0003 a0014c0010t0070 a0015c0062t0056 a0016c0063t0010 a0017c0106t0012 a0019c0018t0058 a0020c0024t0077 a0022c0013t0007 a0024c0038t0075 a0026c0082t0052 a0027c0023t0001 a0028c0097t0018 a0029c0028t0024 a0031c0069t0043 a0032c0011t0065 a0035c0098t0025 a0037c0101t0008 a0038c0066t0010 a0039c0009t0001	a0001c0001t0002g0102 a0001c0002t0028g0005 a0001c0002t0061g0069 others(64): Show a0001c0001t0002g0102 a0001c0002t0028g0005 a0001c0002t0061g0069 a0001c0003t0008g0053 a0001c0003t0013g0026 a0001c0003t0019g0107 a0001c0004t0020g0086 a0001c0005t0002g0111 a0001c0006t0002g0109 a0001c0007t0032g0033 a0001c0019t0078g0105 a0001c0026t0006g0093 a0001c0033t0003g0059 a0001c0039t0066g0080 a0001c0040t0019g0123 a0001c0043t0031g0044 a0001c0045t0012g0010 a0001c0050t0053g0120 a0001c0071t0069g0115 a0001c0085t0020g0060 a0001c0090t0001g0027 a0001c0103t0033g0028 a0001c0105t0001g0029 a0001c0114t0003g0119 a0002c0015t0021g0008 a0002c0022t0036g0048 a0002c0030t0016g0122 a0002c0031t0015g0001 a0002c0032t0050g0061 a0002c0035t0047g0076 a0002c0036t0029g0009 a0002c0037t0009g0046 a0002c0048t0013g0015 a0002c0053t0022g0041 a0002c0054t0079g0096 a0002c0060t0006g0094 a0002c0072t0003g0066 a0002c0075t0026g0051 a0003c0014t0055g0056 a0003c0057t0080g0075 a0003c0058t0057g0117 a0004c0099t0014g0020 a0007c0029t0011g0054 a0007c0088t0076g0057 a0008c0008t0082g0126 a0008c0067t0059g0079 a0011c0110t0074g0082 a0012c0104t0071g0058 a0013c0027t0003g0099 a0014c0010t0070g0084 a0015c0062t0056g0062 a0016c0063t0010g0045 a0017c0106t0012g0042 a0019c0018t0058g0068 a0020c0024t0077g0104 a0022c0013t0007g0112 a0024c0038t0075g0067 a0026c0082t0052g0097 a0027c0023t0001g0052 a0028c0097t0018g0089 a0029c0028t0024g0040 a0031c0069t0043g0100 a0032c0011t0065g0101 a0035c0098t0025g0019 a0037c0101t0008g0023 a0038c0066t0010g0032 a0039c0009t0001g0002	67	126	0.5318	-64	c.100 others(85): Show c.1009+36869_1009+36932delCATATATATATATATATGATCATA TATATGATCATATATATATATATATGATCATATATATGAG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	7/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3772434	TACATTTA others(57): Show TACATTTATATATACACATATATATACATATATACACATATATATACATA TATACACATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG02922.hp2 others(5): Show HG01884.hp2 HG02280.hp1 HG02922.hp2 HG03098.hp1 HG03139.hp2 HG03209.hp1 HG03579.hp2 NA19030.hp1	a0001 a0002 a0020 others(1): Show a0001 a0002 a0020 a0031	a0001c0002 a0001c0019 a0001c0020 others(5): Show a0001c0002 a0001c0019 a0001c0020 a0001c0033 a0002c0022 a0002c0053 a0020c0024 a0031c0069	a0001c0002t0028 a0001c0019t0078 a0001c0020t0016 others(5): Show a0001c0002t0028 a0001c0019t0078 a0001c0020t0016 a0001c0033t0003 a0002c0022t0036 a0002c0053t0022 a0020c0024t0077 a0031c0069t0043	a0001c0002t0028g0005 a0001c0019t0078g0105 a0001c0020t0016g0065 others(5): Show a0001c0002t0028g0005 a0001c0019t0078g0105 a0001c0020t0016g0065 a0001c0033t0003g0059 a0002c0022t0036g0048 a0002c0053t0022g0041 a0020c0024t0077g0104 a0031c0069t0043g0100	8	126	0.0635	-64	c.819 others(83): Show c.819-18456_819-18393delGTATATATGTGTATATATGTATATAT ATGTGTATATATGTATATATATGTGTATATATAAATGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3900259	GTGACAGC others(57): Show GTGACAGCACAGCTGCGTGACAGTGCAGCTGCGTGACACTGTAGCTGGGT GACAGTGCAGCTGGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03209.hp1 NA19030.hp1 others(1): Show HG01884.hp1 HG03209.hp1 NA19030.hp1 NA19030.hp2	a0001 a0012 a0001 a0012	a0001c0019 a0001c0020 a0001c0046 others(1): Show a0001c0019 a0001c0020 a0001c0046 a0012c0104	a0001c0019t0078 a0001c0020t0016 a0001c0046t0073 others(1): Show a0001c0019t0078 a0001c0020t0016 a0001c0046t0073 a0012c0104t0071	a0001c0019t0078g0105 a0001c0020t0016g0065 a0001c0046t0073g0091 others(1): Show a0001c0019t0078g0105 a0001c0020t0016g0065 a0001c0046t0073g0091 a0012c0104t0071g0058	4	126	0.0318	-64	c.818 others(83): Show c.818+97580_818+97643delTCCAGCTGCACTGTCACCCAGCTACA GTGTCACGCAGCTGCACTGTCACGCAGCTGTGCTGTCA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar

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