Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CACNA1C_chr12_2047987_2702950	2280518	TACTTTGC others(24): Show TACTTTGCTGTGCTTCGGTTTAACCTCTTGAG	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0012 a0002c0009t0012	a0002c0009t0012g0066 a0002c0009t0012g0067 a0002c0009t0012g0066 a0002c0009t0012g0067	2	75	0.0267	-31	c.477 others(52): Show c.477+160091_477+160121delTTTGCTGTGCTTCGGTTTAACCTC TTGAGAC	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2280549	GACCTTGC others(24): Show GACCTTGCTGTGCTTCGGTTTAACCTCTTGAT	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01993.hp1 HG02273.hp1 others(4): Show HG01106.hp1 HG01993.hp1 HG02273.hp1 HG02683.hp1 HG03471.hp2 HG04115.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0012	a0001c0001t0015 a0001c0002t0001 a0001c0003t0008 others(1): Show a0001c0001t0015 a0001c0002t0001 a0001c0003t0008 a0001c0012t0007	a0001c0001t0015g0035 a0001c0002t0001g0018 a0001c0002t0001g0091 others(4): Show a0001c0001t0015g0035 a0001c0002t0001g0018 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0003t0008g0062 a0001c0003t0008g0064 a0001c0012t0007g0057	7	29	0.2414	-31	c.477 others(52): Show c.477+160335_477+160365delATACCTTGCTGTGCTTCGGTTTAA CCTCTTG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1D_chr3_53489611_53818733	53689258	ATGGTGAG others(24): Show ATGGTGAGGCTGCCAGGGTGCTCCGTGCTGGC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02965.hp2 NA19043.hp1 others(1): Show HG02647.hp1 HG02965.hp2 NA19043.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0007 a0001c0002t0028 a0001c0002t0053 others(1): Show a0001c0002t0007 a0001c0002t0028 a0001c0002t0053 a0001c0011t0026	a0001c0002t0007g0005 a0001c0002t0028g0198 a0001c0002t0053g0006 others(1): Show a0001c0002t0007g0005 a0001c0002t0028g0198 a0001c0002t0053g0006 a0001c0011t0026g0030	4	208	0.0192	-31	c.122 others(52): Show c.1221-13375_1221-13345delGCTGCCAGGGTGCTCCGTGCTGGC TGGTGAG	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	8/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D1_chr7_81941444_82448777	82099422	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG01192.hp1 others(3): Show HG00642.hp1 HG00735.hp1 HG01192.hp1 HG01258.hp2 HG03834.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0002	a0001c0001t0001g0009 a0001c0001t0003g0034 a0001c0001t0004g0046 others(3): Show a0001c0001t0001g0009 a0001c0001t0003g0034 a0001c0001t0004g0046 a0001c0001t0005g0111 a0001c0001t0006g0142 a0001c0002t0002g0108	6	65	0.0923	-31	c.527 others(50): Show c.527-14553_527-14523delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	6/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82447994	GAATTCAG others(24): Show GAATTCAGTTATTTATCCAAATATTCACTAAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0011 a0001c0003t0001g0011	1	142	0.0070	-31	c.-45 others(42): Show c.-4566_-4536delGTTAGTGAATATTTGGATAAATAACTGAATT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding		4218		chr7	TogoVar
CACNA2D3_chr3_54117552_55079557	54246558	TTGCGGCT others(24): Show TTGCGGCTGTCTGTAATCCCAGCTACTTGGGA	T T	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	116	0.0086	-31	c.205 others(50): Show c.205-73883_205-73853delTGCGGCTGTCTGTAATCCCAGCTACT TGGGA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37			chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54246559	TGCGGCTG others(24): Show TGCGGCTGTCTGTAATCCCAGCTACTTGGGAG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00423.hp1 others(100): Show HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG01070.hp1 HG01070.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG04115.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18951.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19068.hp1 NA19068.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(37): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0001c0025 a0001c0027 a0001c0028 a0001c0030 a0001c0031 a0001c0032 a0001c0034 a0001c0035 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0001c0040 a0001c0041 a0001c0042 a0001c0043 a0002c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(50): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0001 a0001c0003t0006 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0005t0003 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0009t0001 a0001c0009t0008 a0001c0010t0001 a0001c0010t0003 a0001c0010t0006 a0001c0011t0001 a0001c0011t0006 a0001c0012t0005 a0001c0012t0011 a0001c0013t0001 a0001c0014t0001 a0001c0015t0001 a0001c0016t0005 a0001c0017t0001 a0001c0018t0001 a0001c0019t0001 a0001c0021t0002 a0001c0022t0001 a0001c0023t0001 a0001c0024t0001 a0001c0025t0004 a0001c0027t0001 a0001c0028t0001 a0001c0030t0001 a0001c0031t0001 a0001c0032t0001 a0001c0034t0001 a0001c0035t0001 a0001c0036t0005 a0001c0037t0004 a0001c0038t0010 a0001c0039t0001 a0001c0040t0001 a0001c0041t0001 a0001c0042t0001 a0001c0043t0001 a0002c0020t0001	a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0024 others(100): Show a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0061 a0001c0001t0001g0068 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0118 a0001c0001t0002g0003 a0001c0001t0003g0058 a0001c0001t0012g0063 a0001c0002t0001g0004 a0001c0002t0001g0012 a0001c0002t0001g0020 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0060 a0001c0002t0001g0070 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0115 a0001c0002t0002g0066 a0001c0002t0002g0091 a0001c0002t0004g0001 a0001c0003t0001g0011 a0001c0003t0001g0026 a0001c0003t0001g0038 a0001c0003t0001g0042 a0001c0003t0001g0054 a0001c0003t0001g0084 a0001c0003t0001g0094 a0001c0003t0001g0101 a0001c0003t0001g0110 a0001c0003t0006g0064 a0001c0004t0001g0007 a0001c0004t0001g0022 a0001c0004t0001g0095 a0001c0004t0002g0008 a0001c0005t0001g0005 a0001c0005t0001g0052 a0001c0005t0001g0088 a0001c0005t0001g0111 a0001c0005t0003g0055 a0001c0006t0001g0009 a0001c0006t0001g0017 a0001c0007t0001g0043 a0001c0007t0001g0044 a0001c0007t0001g0067 a0001c0008t0001g0074 a0001c0008t0001g0092 a0001c0008t0001g0103 a0001c0009t0001g0013 a0001c0009t0008g0077 a0001c0010t0001g0065 a0001c0010t0003g0057 a0001c0010t0006g0062 a0001c0011t0001g0099 a0001c0011t0001g0109 a0001c0011t0006g0056 a0001c0012t0005g0027 a0001c0012t0011g0036 a0001c0013t0001g0093 a0001c0013t0001g0105 a0001c0014t0001g0071 a0001c0014t0001g0102 a0001c0015t0001g0072 a0001c0015t0001g0108 a0001c0016t0005g0116 a0001c0017t0001g0025 a0001c0018t0001g0076 a0001c0019t0001g0075 a0001c0021t0002g0023 a0001c0022t0001g0041 a0001c0023t0001g0018 a0001c0024t0001g0069 a0001c0025t0004g0106 a0001c0027t0001g0014 a0001c0028t0001g0089 a0001c0030t0001g0028 a0001c0031t0001g0032 a0001c0032t0001g0048 a0001c0034t0001g0086 a0001c0035t0001g0049 a0001c0036t0005g0002 a0001c0037t0004g0019 a0001c0038t0010g0059 a0001c0039t0001g0047 a0001c0040t0001g0117 a0001c0041t0001g0085 a0001c0042t0001g0078 a0001c0043t0001g0051 a0002c0020t0001g0021	103	116	0.8879	-31	c.205 others(50): Show c.205-73849_205-73819delGGCTGTCTGTAATCCCAGCTACTTGG GAGGC	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54298944	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00438.hp1 others(24): Show HG00280.hp2 HG00423.hp1 HG00438.hp1 HG00639.hp2 HG01175.hp1 HG01175.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp2 HG02080.hp2 HG02258.hp2 HG02280.hp2 HG02300.hp2 HG02615.hp2 HG02717.hp2 HG02976.hp1 HG03041.hp2 HG03225.hp1 HG03453.hp2 HG04115.hp1 HG06807.hp1 NA18522.hp1 NA18951.hp2 NA19030.hp2 NA19068.hp2 NA20300.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0012 a0001c0015 a0001c0018 a0001c0019 a0001c0028 a0001c0033 a0001c0036 a0001c0037 a0001c0039	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(16): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0009t0008 a0001c0011t0001 a0001c0012t0005 a0001c0015t0001 a0001c0018t0001 a0001c0019t0001 a0001c0028t0001 a0001c0033t0001 a0001c0036t0005 a0001c0037t0004 a0001c0039t0001	a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0068 others(24): Show a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0068 a0001c0001t0001g0090 a0001c0001t0001g0107 a0001c0002t0001g0039 a0001c0003t0001g0011 a0001c0003t0001g0054 a0001c0004t0001g0050 a0001c0005t0001g0005 a0001c0006t0001g0009 a0001c0006t0001g0017 a0001c0007t0001g0043 a0001c0007t0001g0067 a0001c0008t0001g0092 a0001c0008t0001g0103 a0001c0009t0008g0077 a0001c0011t0001g0109 a0001c0012t0005g0027 a0001c0015t0001g0108 a0001c0018t0001g0076 a0001c0019t0001g0075 a0001c0028t0001g0089 a0001c0033t0001g0114 a0001c0036t0005g0002 a0001c0037t0004g0019 a0001c0039t0001g0047	27	38	0.7105	-31	c.205 others(50): Show c.205-21496_205-21466delAAAAAAAAAAAAAAAAAAAAAAAAAA AAGAA	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	2/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54811465	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0079 a0001c0002t0001g0079	1	2	0.5000	-31	c.138 others(50): Show c.1381-5368_1381-5338delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	13/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNB2_chr10_18135424_18548557	18358330	CACCCACC others(24): Show CACCCACCTCAGACTCCCAGAGTCCTGGGATT	C C	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0065 a0001c0002t0002g0065	1	200	0.0050	-31	c.214 others(50): Show c.214-43591_214-43561delCCACCTCAGACTCCCAGAGTCCTGGG ATTAC	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18481204	ATATATAT others(24): Show ATATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0051 a0002c0003t0051	a0002c0003t0051g0024 a0002c0003t0051g0024	1	179	0.0056	-31	c.334 others(50): Show c.334-17149_334-17119delATATATATATATATATATATATATAT TTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18481206	ATATATAT others(24): Show ATATATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0063 a0001c0001t0008g0063	1	187	0.0053	-31	c.334 others(50): Show c.334-17147_334-17117delATATATATATATATATATATATATTT TTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18358330	CACCCACC others(24): Show CACCCACCTCAGACTCCCAGAGTCCTGGGATT	C C	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0217 a0001c0002t0002g0217	1	300	0.0033	-31	c.51+ others(48): Show c.51+17356_51+17386delCCACCTCAGACTCCCAGAGTCCTGGGAT TAC	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18481204	ATATATAT others(24): Show ATATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03579.hp1 HG02896.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0007 a0002c0003t0066 a0001c0001t0007 a0002c0003t0066	a0001c0001t0007g0251 a0002c0003t0066g0185 a0001c0001t0007g0251 a0002c0003t0066g0185	2	272	0.0074	-31	c.172 others(50): Show c.172-17149_172-17119delATATATATATATATATATATATATAT TTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18481206	ATATATAT others(24): Show ATATATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0204 a0001c0001t0007g0204	1	283	0.0035	-31	c.172 others(50): Show c.172-17147_172-17117delATATATATATATATATATATATATTT TTTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CADM2_chr3_84953989_86079429	85013916	AATATTAT others(24): Show AATATTATATATACGCAGTGTAATAATATTGT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02965.hp2 HG02886.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0007 a0001c0001t0002 a0001c0002t0007	a0001c0001t0002g0136 a0001c0002t0007g0095 a0001c0001t0002g0136 a0001c0002t0007g0095	2	94	0.0213	-31	c.61+ others(48): Show c.61+54395_61+54425delTAATATTGTATATTATATATACGCAGTG TAA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85321116	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	65	0.0154	-31	c.61+ others(50): Show c.61+361468_61+361498delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85333491	TGTATCTA others(24): Show TGTATCTAACTGACCACTTAGTTTGTGGTTGA	T T	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0092 a0001c0001t0003g0092	1	146	0.0068	-31	c.61+ others(50): Show c.61+373827_61+373857delTCTAACTGACCACTTAGTTTGTGGTT GAGTA	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADPS2_chr7_122313411_122891460	122706313	AATATATA others(24): Show AATATATATATATGCTTATATATTCAAGGAAT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0059 a0002c0006t0001g0059	1	86	0.0116	-31	c.453 others(50): Show c.453+30611_453+30641delATTCCTTGAATATATAAGCATATATA TATAT	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	2/29			chr7	TogoVar
CALCR_chr7_93419486_93579724	93557494	CGTGAATA others(24): Show CGTGAATACTTTTTCCATGCTGTTAGTTGATT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp1 HG01081.hp2 others(8): Show HG00642.hp2 HG00738.hp1 HG01081.hp2 HG01515.hp2 HG02922.hp2 HG03195.hp2 HG03491.hp1 HG03492.hp1 HG03834.hp2 HG03927.hp1 HG04228.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0008 a0002c0002 others(3): Show a0001c0001 a0001c0008 a0002c0002 a0002c0004 a0003c0009 a0004c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0008t0026 a0002c0002t0001 a0002c0002t0002 a0002c0004t0002 a0003c0009t0002 a0004c0012t0002	a0001c0001t0002g0243 a0001c0001t0003g0148 a0001c0001t0006g0242 others(8): Show a0001c0001t0002g0243 a0001c0001t0003g0148 a0001c0001t0006g0242 a0001c0008t0026g0144 a0002c0002t0001g0147 a0002c0002t0002g0149 a0002c0002t0002g0246 a0002c0004t0002g0145 a0003c0009t0002g0244 a0003c0009t0002g0245 a0004c0012t0002g0146	11	290	0.0379	-31	c.-27 others(50): Show c.-27+16764_-27+16794delAATCAACTAACAGCATGGAAAAAGTA TTCAC	CALCR	ENSG00000004948.16	transcript	ENST00000426151.7	protein_coding	2/13			chr7	TogoVar
CALN1_chr7_71774491_72417338	71922731	AGAATATA others(24): Show AGAATATATTATATATAAATATATAACATACC	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01071.hp1 HG01261.hp1 others(6): Show HG00438.hp1 HG01071.hp1 HG01261.hp1 HG01361.hp1 HG02523.hp2 HG03490.hp2 NA18942.hp2 NA18961.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0031 a0001c0001t0038	a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0107 others(6): Show a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0005g0014 a0001c0001t0007g0021 a0001c0001t0007g0022 a0001c0001t0031g0025 a0001c0001t0038g0024	9	142	0.0634	-31	c.501 others(52): Show c.501+100895_501+100925delGGTATGTTATATATTTATATATAA TATATTC	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	5/6			chr7	TogoVar
CAMK1D_chr10_12344547_12840545	12387391	TATATATT others(24): Show TATATATTTTTATATATTATATATATTTTATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG00558.hp2 others(36): Show HG00099.hp2 HG00558.hp1 HG00558.hp2 HG00642.hp1 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01256.hp1 HG01258.hp2 HG02040.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02293.hp2 HG02698.hp1 HG02735.hp2 HG03490.hp1 HG03492.hp2 HG03831.hp1 HG03927.hp2 HG03942.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18942.hp2 NA18953.hp2 NA18955.hp2 NA18959.hp1 NA18974.hp2 NA18978.hp2 NA18990.hp2 NA19012.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0022 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0037 a0001c0001t0038 a0001c0001t0050 a0001c0001t0078 a0001c0001t0080 a0001c0001t0086 a0001c0002t0004 a0001c0002t0015 a0001c0002t0016 a0001c0002t0023 a0001c0002t0051 a0001c0002t0052 a0001c0002t0060	a0001c0001t0001g0064 a0001c0001t0002g0171 a0001c0001t0002g0197 others(36): Show a0001c0001t0001g0064 a0001c0001t0002g0171 a0001c0001t0002g0197 a0001c0001t0003g0012 a0001c0001t0003g0167 a0001c0001t0003g0179 a0001c0001t0006g0152 a0001c0001t0006g0177 a0001c0001t0007g0068 a0001c0001t0007g0078 a0001c0001t0009g0213 a0001c0001t0012g0173 a0001c0001t0012g0185 a0001c0001t0014g0147 a0001c0001t0014g0211 a0001c0001t0014g0212 a0001c0001t0017g0198 a0001c0001t0022g0070 a0001c0001t0028g0203 a0001c0001t0030g0092 a0001c0001t0031g0168 a0001c0001t0031g0169 a0001c0001t0033g0186 a0001c0001t0037g0011 a0001c0001t0037g0052 a0001c0001t0038g0174 a0001c0001t0050g0027 a0001c0001t0078g0199 a0001c0001t0080g0160 a0001c0001t0086g0181 a0001c0002t0004g0170 a0001c0002t0015g0069 a0001c0002t0015g0148 a0001c0002t0016g0180 a0001c0002t0023g0102 a0001c0002t0023g0103 a0001c0002t0051g0178 a0001c0002t0052g0214 a0001c0002t0060g0104	39	182	0.2143	-31	c.92+ others(48): Show c.92+37482_92+37512delATATATTTTTATATATTATATATATTTT ATA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10			chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12449561	TGATGTAT others(24): Show TGATGTATACATATATCAAAACATCATGTTAC	T T	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02809.hp2 HG02080.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0088 a0001c0001t0001 a0001c0001t0088	a0001c0001t0001g0046 a0001c0001t0088g0087 a0001c0001t0001g0046 a0001c0001t0088g0087	2	212	0.0094	-31	c.92+ others(48): Show c.92+99712_92+99742delACGATGTATACATATATCAAAACATCAT GTT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12827441	TTCTTTCT others(24): Show TTCTTTCTTTCTTTTCTTTCTTTGTCTGTCTG	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18971.hp2 NA19043.hp2 others(1): Show HG02486.hp2 NA18971.hp2 NA19043.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0084 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0084 a0001c0001t0096	a0001c0001t0001g0047 a0001c0001t0002g0088 a0001c0001t0084g0119 others(1): Show a0001c0001t0001g0047 a0001c0001t0002g0088 a0001c0001t0084g0119 a0001c0001t0096g0098	4	214	0.0187	-31	c.104 others(50): Show c.1040-1314_1040-1284delTCTTTCTTTGTCTGTCTGTCTTTCTT TCTTT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMKK2_chr12_121232692_121301709	121269044	CGGGGAAA others(24): Show CGGGGAAACTGAGGCTCAGCTGTTTTACACAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01069.hp1 HG01099.hp1 others(26): Show HG00323.hp1 HG01069.hp1 HG01099.hp1 HG01175.hp1 HG01358.hp2 HG01884.hp1 HG01891.hp1 HG02486.hp1 HG02559.hp2 HG02809.hp1 HG02809.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG03831.hp2 HG03942.hp1 HG04184.hp1 HG04204.hp2 NA19002.hp1 NA19003.hp2 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0008 a0001c0009 others(6): Show a0001c0001 a0001c0008 a0001c0009 a0001c0014 a0002c0002 a0002c0015 a0002c0023 a0003c0003 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0008t0004 a0001c0008t0008 a0001c0009t0005 a0001c0009t0011 a0001c0014t0001 a0002c0002t0002 a0002c0015t0023 a0002c0023t0010 a0003c0003t0014 a0004c0005t0001	a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0160 others(26): Show a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0160 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0015g0096 a0001c0001t0015g0097 a0001c0008t0004g0102 a0001c0008t0008g0101 a0001c0008t0008g0152 a0001c0008t0008g0153 a0001c0008t0008g0226 a0001c0008t0008g0320 a0001c0009t0005g0018 a0001c0009t0005g0030 a0001c0009t0005g0032 a0001c0009t0005g0033 a0001c0009t0005g0035 a0001c0009t0005g0290 a0001c0009t0011g0031 a0001c0009t0011g0034 a0001c0014t0001g0258 a0001c0014t0001g0260 a0002c0002t0002g0303 a0002c0015t0023g0328 a0002c0023t0010g0301 a0003c0003t0014g0130 a0004c0005t0001g0302	29	327	0.0887	-31	c.574 others(46): Show c.574-386_574-356delATGTGTAAAACAGCTGAGCCTCAGTTTCCC C	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	4/16			chr12	TogoVar
CAMSAP1_chr9_135803487_135912546	135820240	CATGGTCT others(24): Show CATGGTCTTATCATCTTAGGAGACGACGATAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA19079.hp2 NA19089.hp2 HG00408.hp2 NA19079.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0090 a0001c0001t0001g0171 a0001c0001t0001g0172	3	338	0.0089	-31	c.382 others(48): Show c.3822+568_3822+598delATATCGTCGTCTCCTAAGATGATAAGAC CAT	CAMSAP1	ENSG00000130559.19	transcript	ENST00000389532.9	protein_coding	11/16			chr9	TogoVar
CAMTA1_chr1_6780454_7774706	7542553	AGCCTCCT others(24): Show AGCCTCCTGAGTAGCTGGGATTACAGGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02622.hp1 HG02922.hp2 others(1): Show HG02257.hp1 HG02622.hp1 HG02922.hp2 NA19043.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0005c0007	a0001c0001t0011 a0001c0002t0004 a0001c0006t0001 others(1): Show a0001c0001t0011 a0001c0002t0004 a0001c0006t0001 a0005c0007t0014	a0001c0001t0011g0058 a0001c0002t0004g0030 a0001c0006t0001g0055 others(1): Show a0001c0001t0011g0058 a0001c0002t0004g0030 a0001c0006t0001g0055 a0005c0007t0014g0018	4	34	0.1176	-31	c.510 others(50): Show c.510+74749_510+74779delTCCTGAGTAGCTGGGATTACAGGTGT GTGCC	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN10_chr2_240581734_240604104	240602644	GCCACTCC others(24): Show GCCACTCCCGCCAGGCTCCTGGGGCACCGCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02735.hp2 HG03710.hp2 HG02683.hp2 HG02735.hp2 HG03710.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0004 a0002c0003t0003 a0002c0003t0004	a0002c0003t0003g0026 a0002c0003t0004g0026 a0002c0003t0003g0026 a0002c0003t0004g0026	3	410	0.0073	-31	c.39 others(42): Show c.3965_*3995delCCACTCCCGCCAGGCTCCTGGGGCACCGCCA	CAPN10	ENSG00000142330.20	transcript	ENST00000391984.7	protein_coding		3541		chr2	TogoVar
CAPN10_chr2_240581734_240604104	240602738	GCCCACTC others(24): Show GCCCACTCCCTCCAGGCTCCTGGGGCACCGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	409	0.0024	-31	c.40 others(42): Show c.4059_*4089delCCCACTCCCTCCAGGCTCCTGGGGCACCGCC	CAPN10	ENSG00000142330.20	transcript	ENST00000391984.7	protein_coding		3635		chr2	TogoVar
CAPN10_chr2_240581734_240604104	240602739	CCCACTCC others(24): Show CCCACTCCCTCCAGGCTCCTGGGGCACCGCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp2 NA19087.hp1 NA19005.hp2 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0018 a0001c0002t0002g0018	2	395	0.0051	-31	c.40 others(42): Show c.4060_*4090delCCACTCCCTCCAGGCTCCTGGGGCACCGCCG	CAPN10	ENSG00000142330.20	transcript	ENST00000391984.7	protein_coding		3636		chr2	TogoVar
CAPN11_chr6_44153820_44189401	44182041	CCACACAC others(24): Show CCACACACACACATACAGACACAACCACACCA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	301	0.0033	-31	c.193 others(48): Show c.1938+734_1938+764delTACAGACACAACCACACCACACACACAC ACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN9_chr1_230742388_230806989	230751644	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0053 a0001c0005t0001g0053	1	392	0.0026	-31	c.214 others(48): Show c.214-3690_214-3660delGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAA	CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
CARMIL1_chr6_25274374_25625530	25450780	CCTCCCTT others(24): Show CCTCCCTTCCTCCCTCCCTTCCTCCCTCCCCT	C C	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0069 a0001c0004t0002g0069	1	184	0.0054	-31	c.614 others(45): Show c.614+71_614+101delTCCCTTCCTCCCTCCCTTCCTCCCTCCCCTC	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CARNMT1_chr9_74975790_75033293	75008863	TTGAAAAA others(24): Show TTGAAAAACAACAAACGAGGACTCACACTTCC	T T	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0045	1	364	0.0027	-31	c.590 others(48): Show c.590+7374_590+7404delGGAAGTGTGAGTCCTCGTTTGTTGTTTT TCA	CARNMT1	ENSG00000156017.13	transcript	ENST00000376834.8	protein_coding	3/7			chr9	TogoVar
CASP5_chr11_104989243_105028168	105010449	TATTATAC others(24): Show TATTATACTGATATAATAAATCAGTAATTATC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG01069.hp1 others(17): Show HG00639.hp1 HG00639.hp2 HG01069.hp1 HG01081.hp1 HG01106.hp2 HG01261.hp1 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01981.hp2 HG02004.hp2 HG02257.hp2 HG02273.hp1 HG02683.hp1 HG02738.hp1 HG03490.hp2 HG03688.hp2	a0002 a0004 a0002 a0004	a0002c0003 a0004c0004 a0002c0003 a0004c0004	a0002c0003t0001 a0004c0004t0001 a0002c0003t0001 a0004c0004t0001	a0002c0003t0001g0015 a0002c0003t0001g0033 a0002c0003t0001g0034 others(13): Show a0002c0003t0001g0015 a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0070 a0002c0003t0001g0071 a0002c0003t0001g0073 a0002c0003t0001g0074 a0002c0003t0001g0076 a0002c0003t0001g0077 a0002c0003t0001g0078 a0002c0003t0001g0081 a0004c0004t0001g0069 a0004c0004t0001g0072 a0004c0004t0001g0075 a0004c0004t0001g0079 a0004c0004t0001g0080	20	391	0.0512	-31	c.8-1 others(44): Show c.8-1500_8-1470delGATAATTACTGATTTATTATATCAGTATAAT	CASP5	ENSG00000137757.11	transcript	ENST00000260315.8	protein_coding	1/9			chr11	TogoVar
CASR_chr3_122178668_122296629	122201672	GGGCTGAC others(24): Show GGGCTGACCCCCACCTCCCTCCCGGACGGGGC	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG03041.hp2 HG02896.hp2 HG02897.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0037 a0001c0001t0007g0035 a0001c0001t0007g0036 a0001c0001t0005g0037 a0001c0001t0007g0035 a0001c0001t0007g0036	3	312	0.0096	-31	c.-24 others(52): Show c.-243+17866_-243+17896delACCCCCACCTCCCTCCCGGACGGG GCGGCTG	CASR	ENSG00000036828.17	transcript	ENST00000639785.2	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
CASTOR1_chr22_30280117_30294505	30293248	GTGATTCT others(24): Show GTGATTCTGCCTCTGTGAGCCTCCATTTCCTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	422	0.0024	-31	c.-37 others(42): Show c.-3782_-3752delGAGGAAATGGAGGCTCACAGAGGCAGAATCA	CASTOR1	ENSG00000239282.8	transcript	ENST00000407689.8	protein_coding		3744		chr22	TogoVar
CAT_chr11_34433934_34477060	34476924	GGTGAATT others(24): Show GGTGAATTGGACAGTGATCCCCCAAAAGATAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0043	1	422	0.0024	-31	c.54 others(42): Show c.5492_*5522delGTGAATTGGACAGTGATCCCCCAAAAGATAT	CAT	ENSG00000121691.7	transcript	ENST00000241052.5	protein_coding		4865		chr11	TogoVar
CAV1_chr7_116520036_116566179	116533348	TAAATAAA others(24): Show TAAATAAAATAAAATAAAATAAAATAAAATAA	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0092 a0001c0001t0004g0092	1	78	0.0128	-31	c.195 others(48): Show c.195+6662_195+6692delATAAAATAAAATAAAATAAAATAAAATA AAA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CAV1_chr7_116520036_116566179	116555507	AGAAAGAA others(24): Show AGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01106.hp1 HG01943.hp1 others(11): Show HG00642.hp2 HG01106.hp1 HG01943.hp1 HG02055.hp2 HG02165.hp2 HG02683.hp1 HG02717.hp2 HG02965.hp1 HG03490.hp2 HG03492.hp1 HG03834.hp2 HG04184.hp1 NA18981.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0104 a0001c0001t0001g0124 a0001c0001t0001g0144 others(9): Show a0001c0001t0001g0104 a0001c0001t0001g0124 a0001c0001t0001g0144 a0001c0001t0002g0001 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0040 a0001c0001t0002g0084 a0001c0001t0002g0146 a0001c0001t0002g0175 a0001c0001t0002g0182 a0001c0001t0005g0097	14	312	0.0449	-31	c.196 others(48): Show c.196-3438_196-3408delGAAAGAAAGAAAGAGAGAGAGAGAGAGA GAG	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2			chr7	TogoVar
CAV1_chr7_116520036_116566179	116555511	AGAAAGAA others(24): Show AGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01070.hp1 HG02273.hp2 others(2): Show HG01069.hp2 HG01070.hp1 HG02273.hp2 HG03491.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0001g0045 a0001c0001t0001g0046 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0002g0001 a0001c0001t0002g0034	5	296	0.0169	-31	c.196 others(48): Show c.196-3434_196-3404delGAAAGAAAGAGAGAGAGAGAGAGAGAGA GAG	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2			chr7	TogoVar
CAV1_chr7_116520036_116566179	116555513	AAAGAAAG others(24): Show AAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG04204.hp1 NA18939.hp2 others(2): Show HG00673.hp2 HG04204.hp1 NA18939.hp2 NA18940.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0010 a0001c0001t0001g0025 a0001c0001t0001g0085 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0025 a0001c0001t0001g0085 a0001c0001t0002g0001 a0001c0001t0002g0187	5	299	0.0167	-31	c.196 others(48): Show c.196-3430_196-3400delGAAAGAGAGAGAGAGAGAGAGAGAGAGA GAA	CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
CBFA2T3_chr16_88869858_88982207	88889756	CCGCGATT others(24): Show CCGCGATTCCTCCTCCTCCAGGGACGACGCCA	C C	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	282	0.0035	-31	c.711 others(48): Show c.711+2095_711+2125delTGGCGTCGTCCCTGGAGGAGGAGGAATC GCG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88889872	TGGACGAC others(24): Show TGGACGACGCCCCGCGATTCCTCCTCCTTCAG	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	282	0.0035	-31	c.711 others(48): Show c.711+1979_711+2009delCTGAAGGAGGAGGAATCGCGGGGCGTCG TCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88905708	GCTGGAGG others(24): Show GCTGGAGGGGCGGGGCTGAAGGAGGGGCGGGA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03579.hp2 HG02886.hp1 HG03579.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0012 a0001c0005t0028 a0001c0005t0012 a0001c0005t0028	a0001c0005t0012g0237 a0001c0005t0028g0196 a0001c0005t0012g0237 a0001c0005t0028g0196	2	282	0.0071	-31	c.152 others(48): Show c.152-4083_152-4053delTCCCGCCCCTCCTTCAGCCCCGCCCCTC CAG	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11			chr16	TogoVar
CBR1_chr21_36065024_36078164	36069956	GGGCGGGG others(24): Show GGGCGGGGCCTGCGCCTGCGCGCTCAGCGGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0006	1	428	0.0023	-31	c.-15 others(40): Show c.-159_-129delGGCGGGGCCTGCGCCTGCGCGCTCAGCGGCC	CBR1	ENSG00000159228.13	transcript	ENST00000290349.11	protein_coding		67		chr21	TogoVar
CBS_chr21_43048191_43080835	43057735	CGCGCACC others(24): Show CGCGCACCTGTTTGAGCTGCCTGTAGGTGACT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG01081.hp1 others(30): Show HG00099.hp2 HG00280.hp2 HG01081.hp1 HG01167.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp1 HG02055.hp1 HG02559.hp1 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03710.hp2 HG03834.hp2 NA19043.hp1 NA20300.hp2	a0002 a0008 a0002 a0008	a0002c0003 a0002c0010 a0008c0015 a0002c0003 a0002c0010 a0008c0015	a0002c0003t0003 a0002c0003t0004 a0002c0010t0001 others(1): Show a0002c0003t0003 a0002c0003t0004 a0002c0010t0001 a0008c0015t0012	a0002c0003t0003g0118 a0002c0003t0004g0010 a0002c0003t0004g0011 others(21): Show a0002c0003t0003g0118 a0002c0003t0004g0010 a0002c0003t0004g0011 a0002c0003t0004g0017 a0002c0003t0004g0032 a0002c0003t0004g0033 a0002c0003t0004g0037 a0002c0003t0004g0105 a0002c0003t0004g0106 a0002c0003t0004g0107 a0002c0003t0004g0108 a0002c0003t0004g0110 a0002c0003t0004g0112 a0002c0003t0004g0113 a0002c0003t0004g0114 a0002c0003t0004g0116 a0002c0003t0004g0117 a0002c0003t0004g0119 a0002c0003t0004g0162 a0002c0003t0004g0163 a0002c0003t0004g0164 a0002c0003t0004g0177 a0002c0010t0001g0042 a0008c0015t0012g0156	33	298	0.1107	-31	c.146 others(48): Show c.1467+379_1467+409delAGTCACCTACAGGCAGCTCAAACAGGTG CGC	CBS	ENSG00000160200.18	transcript	ENST00000398165.8	protein_coding	15/16			chr21	TogoVar
CCAR1_chr10_68716239_68797377	68758661	ATGTATAT others(24): Show ATGTATATATACACACGTGTATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02486.hp1 HG02622.hp2 others(7): Show HG01891.hp1 HG02486.hp1 HG02622.hp2 HG02630.hp2 HG02965.hp2 HG03041.hp2 HG03130.hp2 HG03516.hp2 NA18906.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0219 a0001c0001t0001g0220 others(7): Show a0001c0001t0001g0163 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0257	10	353	0.0283	-31	c.192 others(50): Show c.1920+1286_1920+1316delGTATATATACACACGTGTATATATAT ATTTT	CCAR1	ENSG00000060339.14	transcript	ENST00000265872.11	protein_coding	15/24		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCBE1_chr18_59425939_59702423	59591245	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0095 a0001c0001t0069g0095	1	177	0.0056	-31	c.212 others(52): Show c.212+105353_212+105383delTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar
CCBE1_chr18_59425939_59702423	59658353	AAATATAT others(24): Show AAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0020 a0001c0001t0031g0020	1	230	0.0043	-31	c.212 others(50): Show c.212+38245_212+38275delATATATATATATATATATATATATAT ATATT	CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10			chr18	TogoVar

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