Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CLPX_chr15_65143219_65190342	65145939	AATATATA others(36): Show AATATATAAATATATATATAAAATATATATATAAATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02886.hp1 HG03130.hp2 others(1): Show HG02572.hp2 HG02886.hp1 HG03130.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0012g0009 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0012g0009	4	190	0.0211	-43	c.48 others(54): Show c.4841_*4883delATATATATATTTATATATATATTTTATATATATA TTTATATAT		CLPX	ENSG00000166855.9	transcript	ENST00000300107.7	protein_coding					2279		chr15	TogoVar
CMKLR2_chr2_206170316_206218371	206172761	CGGGAGAG others(36): Show CGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGACGGGAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	322	0.0031	-43	c.33 others(54): Show c.3376_*3418delTCTCCCGTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCC		CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding					2554		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206172884	GAGGGAGA others(36): Show GAGGGAGACGGGAGAGGGAGAGGGAGAGGGAGACGGGAGAGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03195.hp1 HG03516.hp1 HG03139.hp1 HG03195.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0132 a0001c0001t0005g0311 a0001c0001t0005g0312 a0001c0001t0005g0132 a0001c0001t0005g0311 a0001c0001t0005g0312	3	322	0.0093	-43	c.32 others(54): Show c.3253_*3295delTCCCTCTCCCGTCTCCCTCTCCCTCTCCCTCTCC CGTCTCCCT		CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding					2431		chr2	TogoVar
CNEP1R1_chr16_50020225_50042081	50038729	AGACAGAG others(36): Show AGACAGAGAAAAATAAAAAGATATTTGTTACCATATTTTAAAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	378	0.0027	-43	c.32 others(54): Show c.3272_*3314delGACAGAGAAAAATAAAAAGATATTTGTTACCATA TTTTAAAGG		CNEP1R1	ENSG00000205423.12	transcript	ENST00000427478.7	protein_coding					1649		chr16	TogoVar
CNN2_chr19_1021608_1044065	1023139	CTCATGCC others(36): Show CTCATGCCTGTAATCTCAGCACTTTTGGAGGCTGAGGCGGGAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 NA19009.hp2 HG00621.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0028 a0001c0001t0001 a0001c0001t0028	a0001c0001t0001g0127 a0001c0001t0028g0001 a0001c0001t0001g0127 a0001c0001t0028g0001	2	390	0.0051	-43	c.-35 others(54): Show c.-3522_-3480delTCATGCCTGTAATCTCAGCACTTTTGGAGGCTGA GGCGGGAGG		CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding					3468		chr19	TogoVar
CNOT4_chr7_135356795_135515102	135472501	AAAAAAAA others(36): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0325 a0001c0008t0001g0325	1	362	0.0028	-43	c.-92 others(62): Show c.-92-34121_-92-34079delATATATATATATATATATATATATAT ATATTTTTTTTTTTTTT		CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11						chr7	TogoVar
CNOT4_chr7_135356795_135515102	135495687	AAAAAAAG others(36): Show AAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02572.hp2 HG02615.hp2 others(3): Show HG02486.hp1 HG02572.hp2 HG02615.hp2 HG02717.hp2 HG03225.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 others(3): Show a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140	6	362	0.0166	-43	c.-93 others(62): Show c.-93+14159_-93+14201delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTTTT		CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11						chr7	TogoVar
CNR2_chr1_23865515_23918362	23897856	AGCATGCA others(36): Show AGCATGCAAACTGTTGCAATATGTTGTTGTGGTTTAACTATGTG	A A	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0023 a0003c0003t0023	a0003c0003t0023g0153 a0003c0003t0023g0153	1	268	0.0037	-43	c.-46 others(62): Show c.-46+15347_-46+15389delCACATAGTTAAACCACAACAACATAT TGCAACAGTTTGCATGC		CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1						chr1	TogoVar
CNTN4_chr3_2093866_3062959	2120343	CATTTAGG others(36): Show CATTTAGGTTATATATATATATATATATATAAATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG01256.hp2 others(20): Show HG00140.hp1 HG00140.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp1 HG01891.hp2 HG02074.hp1 HG02074.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02486.hp2 HG02602.hp1 HG02683.hp1 HG02818.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03654.hp2 HG03831.hp2 HG06807.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0021 a0001c0022 a0002c0017 a0004c0011 a0006c0028 a0007c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0002t0002 a0001c0003t0003 a0001c0004t0001 a0001c0004t0002 a0001c0006t0002 a0001c0006t0003 a0001c0007t0016 a0001c0009t0004 a0001c0021t0002 a0001c0022t0003 a0002c0017t0008 a0004c0011t0003 a0006c0028t0001 a0007c0018t0003	a0001c0001t0001g0099 a0001c0001t0002g0028 a0001c0001t0002g0055 others(20): Show a0001c0001t0001g0099 a0001c0001t0002g0028 a0001c0001t0002g0055 a0001c0001t0005g0098 a0001c0001t0005g0115 a0001c0001t0008g0089 a0001c0002t0002g0063 a0001c0002t0002g0078 a0001c0003t0003g0046 a0001c0004t0001g0097 a0001c0004t0002g0064 a0001c0006t0002g0026 a0001c0006t0002g0060 a0001c0006t0003g0069 a0001c0007t0016g0105 a0001c0009t0004g0005 a0001c0021t0002g0025 a0001c0022t0003g0083 a0002c0017t0008g0067 a0004c0011t0003g0065 a0004c0011t0003g0111 a0006c0028t0001g0023 a0007c0018t0003g0062	23	116	0.1983	-43	c.-14 others(64): Show c.-145+19707_-145+19749delTTAGGTTATATATATATATATATA TATAAATATATATATATAT		CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr3	TogoVar
COG8_chr16_69321428_69344564	69337577	ACCTGCTT others(36): Show ACCTGCTTTATCAAGTCCCCTATCTATTCTGGAGCATGGAAGGG	A A	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0004 a0008c0013t0004	a0008c0013t0004g0151 a0008c0013t0004g0151	1	360	0.0028	-43	c.378 others(58): Show c.378-908_378-866delCCCTTCCATGCTCCAGAATAGATAGGGGAC TTGATAAAGCAGG		COG8	ENSG00000213380.16	transcript	ENST00000306875.10	protein_coding	1/5						chr16	TogoVar
COL18A1_chr21_45400165_45518720	45501652	CCTCCACA others(36): Show CCTCCACAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGG	C C	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0002 a0001c0033t0002	a0001c0033t0002g0100 a0001c0033t0002g0100	1	292	0.0034	-43	c.268 others(62): Show c.2684-2253_2684-2211delCCTCTGCAGAAGGACCCCCAGGGGCT CCACAGCCGGTCACCTC		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501758	CCTCTGCA others(36): Show CCTCTGCAGAAGGACCCCCAGGGGCTCCACAGCCGGTCACCTCT	C C	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0235 a0001c0002t0002g0235	1	292	0.0034	-43	c.268 others(62): Show c.2684-2210_2684-2168delTCTCTGCAGAAGGACCCCCAGGGGCT CCACAGCCGGTCACCTC		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45501830	CAGCCGGT others(36): Show CAGCCGGTCACCTCCCTCTGCAGAAGGACCCCCAGGGGCTTCAA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01993.hp1 HG02132.hp1 others(8): Show HG00621.hp1 HG01993.hp1 HG02132.hp1 NA18944.hp1 NA18949.hp2 NA18959.hp1 NA18961.hp1 NA18975.hp2 NA18983.hp2 NA19070.hp2 NA19088.hp1	a0001 a0003 a0034 a0001 a0003 a0034	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0081 a0003c0010 a0034c0075	a0001c0001t0001 a0001c0002t0002 a0001c0006t0003 others(3): Show a0001c0001t0001 a0001c0002t0002 a0001c0006t0003 a0001c0081t0003 a0003c0010t0002 a0034c0075t0001	a0001c0001t0001g0093 a0001c0001t0001g0124 a0001c0001t0001g0246 others(8): Show a0001c0001t0001g0093 a0001c0001t0001g0124 a0001c0001t0001g0246 a0001c0001t0001g0258 a0001c0002t0002g0092 a0001c0002t0002g0104 a0001c0002t0002g0269 a0001c0006t0003g0079 a0001c0081t0003g0154 a0003c0010t0002g0151 a0034c0075t0001g0116	11	292	0.0377	-43	c.268 others(62): Show c.2684-2141_2684-2099delTCAAAGCCGGTCACCTCCCTCTGCAG AAGGACCCCCAGGGGCT		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45502046	GCAGCCGG others(36): Show GCAGCCGGTCACCTCCCTCTGCCGAAGGACCCCCAGGGGCTCCA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG02280.hp1 others(4): Show HG00438.hp2 HG00544.hp2 HG02280.hp1 HG03209.hp2 HG03471.hp2 NA18906.hp2 NA18977.hp1	a0001 a0005 a0019 a0001 a0005 a0019	a0001c0004 a0001c0022 a0005c0036 others(1): Show a0001c0004 a0001c0022 a0005c0036 a0019c0096	a0001c0004t0001 a0001c0022t0001 a0005c0036t0001 others(1): Show a0001c0004t0001 a0001c0022t0001 a0005c0036t0001 a0019c0096t0015	a0001c0004t0001g0013 a0001c0004t0001g0255 a0001c0022t0001g0008 others(4): Show a0001c0004t0001g0013 a0001c0004t0001g0255 a0001c0022t0001g0008 a0001c0022t0001g0021 a0001c0022t0001g0131 a0005c0036t0001g0292 a0019c0096t0015g0045	7	292	0.0240	-43	c.268 others(62): Show c.2684-1943_2684-1901delCGAAGGACCCCCAGGGGCTCCACAGC CGGTCACCTCCCTCTGC		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL26A1_chr7_101357875_101564024	101489711	TTCATTCT others(36): Show TTCATTCTTTCTTTCTCTCTCTCTTTCTCTCTTTCTTTCTTGTC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02698.hp1 HG02257.hp1 HG02698.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0006 a0001c0005 a0002c0006	a0001c0005t0002 a0002c0006t0004 a0001c0005t0002 a0002c0006t0004	a0001c0005t0002g0155 a0002c0006t0004g0043 a0001c0005t0002g0155 a0002c0006t0004g0043	2	174	0.0115	-43	c.385 others(62): Show c.385+41927_385+41969delATTCTTTCTTTCTCTCTCTCTTTCTC TCTTTCTTTCTTGTCTC		COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
COL4A2_chr13_110302284_110518209	110321211	TATATATA others(36): Show TATATATATATATATACACACACACACACACATAGAGAGTGTAC	T T	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0121 a0002c0121	a0002c0121t0016 a0002c0121t0016	a0002c0121t0016g0238 a0002c0121t0016g0238	1	372	0.0027	-43	c.99+ others(60): Show c.99+13100_99+13142delTATACACACACACACACACATAGAGAGT GTACATATATATATA		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110497811	GCAGCACA others(36): Show GCAGCACAGCCTCAGTCAGGGGTGAGGATCTGGGGTCAGTCCAC	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02257.hp1 HG03041.hp1 others(2): Show HG01074.hp1 HG02257.hp1 HG03041.hp1 HG03225.hp1 NA19030.hp1	a0002 a0003 a0002 a0003	a0002c0019 a0002c0066 a0002c0091 others(2): Show a0002c0019 a0002c0066 a0002c0091 a0002c0113 a0003c0105	a0002c0019t0006 a0002c0066t0007 a0002c0091t0001 others(2): Show a0002c0019t0006 a0002c0066t0007 a0002c0091t0001 a0002c0113t0008 a0003c0105t0011	a0002c0019t0006g0131 a0002c0066t0007g0181 a0002c0091t0001g0210 others(2): Show a0002c0019t0006g0131 a0002c0066t0007g0181 a0002c0091t0001g0210 a0002c0113t0008g0040 a0003c0105t0011g0168	5	372	0.0134	-43	c.376 others(62): Show c.3760+2522_3760+2564delCAGCCTCAGTCAGGGGTGAGGATCTG GGGTCAGTCCACCAGCA		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	40/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A5_chrX_108434838_108702545	108526648	CTTTCTTT others(36): Show CTTTCTTTCTTTCTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0042 a0002c0004t0003g0042	1	269	0.0037	-43	c.82- others(60): Show c.82-13096_82-13054delTTCTTTCTTTCTTCTTTCTTTCTCTTTC TTTCTTTCTTTCTTT		COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52					INFO_REALIGN_3_PRIME	chrX	TogoVar
COMMD10_chr5_116080025_116298287	116129545	ATACTAAT others(36): Show ATACTAATGTAATATACATTAGTATATATATACTATATACTAAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0196 a0001c0004t0001g0196	1	350	0.0029	-43	c.400 others(60): Show c.400-4522_400-4480delTACTAATGTAATATACATTAGTATATAT ATACTATATACTAAT		COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	4/6						chr5	TogoVar
COX19_chr7_959852_980549	962225	CTGTGGGC others(36): Show CTGTGGGCGAGGGGCTGTGACCGTCCCGGCCCGTGAAGGATCAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG01106.hp2 HG01934.hp2 others(49): Show HG00408.hp2 HG01106.hp2 HG01934.hp2 HG02027.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp2 HG02165.hp2 HG02300.hp2 HG03927.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18947.hp1 NA18949.hp1 NA18953.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18971.hp1 NA18972.hp1 NA18981.hp2 NA18984.hp2 NA18986.hp2 NA18990.hp1 NA18993.hp2 NA18997.hp1 NA18999.hp2 NA19001.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp2 NA19030.hp2 NA19056.hp1 NA19060.hp2 NA19066.hp2 NA19068.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19085.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0022 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0022 a0001c0001t0031 a0001c0001t0032 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045	a0001c0001t0001g0001 a0001c0001t0003g0003 a0001c0001t0003g0057 others(18): Show a0001c0001t0001g0001 a0001c0001t0003g0003 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0022g0056 a0001c0001t0022g0171 a0001c0001t0031g0168 a0001c0001t0031g0172 a0001c0001t0032g0055 a0001c0001t0043g0061 a0001c0001t0044g0169 a0001c0001t0045g0170	52	432	0.1204	-43	c.71 others(54): Show c.7110_*7152delTTGATCCTTCACGGGCCGGGACGGTCACAGCCCC TCGCCCACA		COX19	ENSG00000240230.6	transcript	ENST00000344111.4	protein_coding					2626		chr7	TogoVar
COX19_chr7_959852_980549	962319	GAGGGGCC others(36): Show GAGGGGCCGTGACCGTCCCGGCCCATGCAGGATCAATGTGGGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG01243.hp1 HG02080.hp2 others(4): Show HG00423.hp2 HG01243.hp1 HG02080.hp2 NA18965.hp1 NA18993.hp1 NA19012.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0081 a0001c0001t0001 a0001c0001t0002 a0001c0001t0081	a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0002g0002 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0002g0002 a0001c0001t0081g0138	7	432	0.0162	-43	c.70 others(54): Show c.7016_*7058delTGCCCACATTGATCCTGCATGGGCCGGGACGGTC ACGGCCCCT		COX19	ENSG00000240230.6	transcript	ENST00000344111.4	protein_coding					2532		chr7	TogoVar
CPNE3_chr8_86509435_86566498	86548378	TAATGAGT others(36): Show TAATGAGTATTTGACTGCTCTCTGGTCTGTGGGACTGGTCATTC	T T	frameshift_variant frameshift_variant	HIGH	HG00609.hp2 HG00609.hp2	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0001 a0009c0015t0001	a0009c0015t0001g0048 a0009c0015t0001g0048	1	340	0.0029	-43	c.960 others(51): Show c.960_1002delTGAGTATTTGACTGCTCTCTGGTCTGTGGGACTGGTC ATTCAA	p.Asn others(5): Show p.Asn320fs	CPNE3	ENSG00000085719.13	transcript	ENST00000517490.6	protein_coding	12/17	1115/4857	960/1614	320/537		INFO_REALIGN_3_PRIME	chr8	TogoVar
CRACD_chr4_56044098_56335609	56065035	ATTAGAAC others(36): Show ATTAGAACTCTCAGAAGTGCCTCTGGAACCTCTTGCCATGAGTC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG01106.hp2 others(12): Show HG00099.hp1 HG00639.hp1 HG01106.hp2 HG01496.hp1 HG02148.hp1 HG02698.hp1 HG02698.hp2 HG03516.hp1 NA18961.hp2 NA18977.hp2 NA18986.hp1 NA19002.hp2 NA19005.hp2 NA19043.hp2 NA19082.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0032	a0001c0001 a0002c0003 a0003c0002 others(3): Show a0001c0001 a0002c0003 a0003c0002 a0003c0007 a0004c0004 a0032c0044	a0001c0001t0003 a0001c0001t0026 a0002c0003t0001 others(5): Show a0001c0001t0003 a0001c0001t0026 a0002c0003t0001 a0003c0002t0002 a0003c0007t0002 a0004c0004t0004 a0004c0004t0014 a0032c0044t0001	a0001c0001t0003g0157 a0001c0001t0026g0077 a0002c0003t0001g0083 others(12): Show a0001c0001t0003g0157 a0001c0001t0026g0077 a0002c0003t0001g0083 a0002c0003t0001g0084 a0002c0003t0001g0085 a0002c0003t0001g0087 a0002c0003t0001g0123 a0003c0002t0002g0047 a0003c0002t0002g0078 a0003c0002t0002g0079 a0003c0002t0002g0081 a0003c0007t0002g0168 a0004c0004t0004g0082 a0004c0004t0014g0086 a0032c0044t0001g0039	15	250	0.0600	-43	c.-33 others(64): Show c.-336+15739_-336+15781delAGAACTCTCAGAAGTGCCTCTGGA ACCTCTTGCCATGAGTCTT		CRACD	ENSG00000109265.15	transcript	ENST00000682029.1	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
CRB1_chr1_197263252_197483455	197354817	GCCCCCCC others(36): Show GCCCCCCCACCCCCCCCCCCCGCCCACCCCCCCCCCCCCGCCCA	G G	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG03239.hp1 HG03239.hp2 others(1): Show HG02129.hp1 HG03239.hp1 HG03239.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0133 a0001c0001t0001g0142 others(1): Show a0001c0001t0001g0125 a0001c0001t0001g0133 a0001c0001t0001g0142 a0001c0001t0001g0143	4	186	0.0215	-43	c.989 others(60): Show c.989-2010_989-1968delCCCCACCCCCCCCCCCCGCCCACCCCCC CCCCCCCGCCCACCC		CRB1	ENSG00000134376.17	transcript	ENST00000367400.8	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
CRISP2_chr6_49687359_49718543	49701967	ATAATATA others(36): Show ATAATATATAATATATATAATATAATATATTATATTATACATAT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02165.hp1 NA19012.hp2 others(2): Show HG02083.hp2 HG02165.hp1 NA19012.hp2 NA19054.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 others(2): Show a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0002g0001	5	410	0.0122	-43	c.67- others(58): Show c.67-1226_67-1184delATATGTATAATATAATATATTATATTATAT ATATTATATATTA		CRISP2	ENSG00000124490.14	transcript	ENST00000339139.5	protein_coding	4/9						chr6	TogoVar
CROCC2_chr2_240901336_240998311	240916460	GCGCTCCC others(36): Show GCGCTCCCCCCGTGCCCCCGCGCCCCCGCGCCCCCTGCGCTCCC	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01243.hp2 HG01433.hp1 others(45): Show HG00621.hp1 HG01243.hp2 HG01433.hp1 HG01496.hp1 HG01891.hp1 HG01952.hp2 HG01978.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02148.hp2 HG02300.hp2 HG02486.hp2 HG02717.hp1 HG03098.hp2 HG06807.hp1 NA18612.hp2 NA18945.hp1 NA18953.hp1 NA18954.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18969.hp1 NA18971.hp1 NA18973.hp1 NA18977.hp2 NA18983.hp1 NA18984.hp2 NA18994.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19011.hp2 NA19064.hp2 NA19066.hp2 NA19070.hp1 NA19079.hp2 NA19082.hp1 NA19085.hp1 NA19087.hp2 NA19090.hp1 NA19240.hp2 NA20300.hp2	a0001 a0004 a0006 others(12): Show a0001 a0004 a0006 a0007 a0009 a0010 a0011 a0017 a0021 a0023 a0028 a0029 a0050 a0054 a0055	a0001c0001 a0004c0050 a0006c0007 others(16): Show a0001c0001 a0004c0050 a0006c0007 a0006c0046 a0007c0006 a0009c0010 a0009c0048 a0010c0009 a0011c0043 a0011c0080 a0017c0041 a0021c0019 a0023c0054 a0023c0055 a0028c0047 a0029c0049 a0050c0039 a0054c0036 a0055c0035	a0001c0001t0001 a0001c0001t0003 a0004c0050t0003 others(19): Show a0001c0001t0001 a0001c0001t0003 a0004c0050t0003 a0006c0007t0001 a0006c0007t0003 a0006c0046t0001 a0007c0006t0003 a0009c0010t0001 a0009c0010t0003 a0009c0048t0001 a0010c0009t0001 a0011c0043t0001 a0011c0080t0001 a0017c0041t0003 a0021c0019t0001 a0023c0054t0001 a0023c0055t0001 a0028c0047t0001 a0029c0049t0001 a0050c0039t0003 a0054c0036t0001 a0055c0035t0003	a0001c0001t0001g0155 a0001c0001t0001g0191 a0001c0001t0003g0196 others(45): Show a0001c0001t0001g0155 a0001c0001t0001g0191 a0001c0001t0003g0196 a0004c0050t0003g0218 a0006c0007t0001g0093 a0006c0007t0001g0094 a0006c0007t0001g0193 a0006c0007t0001g0194 a0006c0007t0001g0195 a0006c0007t0001g0199 a0006c0007t0001g0204 a0006c0007t0001g0212 a0006c0007t0001g0215 a0006c0007t0001g0216 a0006c0007t0001g0217 a0006c0007t0001g0221 a0006c0007t0001g0224 a0006c0007t0001g0233 a0006c0007t0003g0209 a0006c0046t0001g0228 a0007c0006t0003g0164 a0009c0010t0001g0200 a0009c0010t0001g0203 a0009c0010t0001g0222 a0009c0010t0001g0223 a0009c0010t0001g0230 a0009c0010t0003g0190 a0009c0010t0003g0192 a0009c0010t0003g0197 a0009c0010t0003g0206 a0009c0010t0003g0211 a0009c0010t0003g0219 a0009c0010t0003g0229 a0009c0048t0001g0207 a0010c0009t0001g0213 a0010c0009t0001g0225 a0011c0043t0001g0171 a0011c0080t0001g0142 a0017c0041t0003g0163 a0021c0019t0001g0220 a0021c0019t0001g0227 a0023c0054t0001g0189 a0023c0055t0001g0172 a0028c0047t0001g0202 a0029c0049t0001g0198 a0050c0039t0003g0214 a0054c0036t0001g0231 a0055c0035t0003g0232	48	350	0.1371	-43	c.79- others(58): Show c.79-2252_79-2210delCCCCCGCGCCCCCGCGCCCCCTGCGCTCCC CGCTCCCCCCGTG		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	1/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240919067	TGGGCCCG others(36): Show TGGGCCCGGGGCTGGGCAAGGTGATGGCGTGGGGGACGGTCCTG	T T	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0041 a0003c0003t0001g0041	1	350	0.0029	-43	c.229 others(58): Show c.229+194_229+236delGCCCGGGGCTGGGCAAGGTGATGGCGTGGG GGACGGTCCTGGG		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	2/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CRYBB2_chr22_25214639_25236869	25218757	GAGAGAGA others(36): Show GAGAGAGAGAGAGAGAGAGAGAGAAGAAAGAAAGAAAGAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0073	1	464	0.0022	-43	c.-93 others(52): Show c.-935_-893delAGAGAGAGAGAGAGAGAGAGAGAAGAAAGAAAGAAA GAAAGAA		CRYBB2	ENSG00000244752.3	transcript	ENST00000398215.3	protein_coding					881		chr22	TogoVar
CRYBG1_chr6_106355717_106577017	106568055	TGCTCTTT others(36): Show TGCTCTTTCCTCGCTGGTGTCTCGAATCTACCATCTCACCACCA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01106.hp2 HG01255.hp1 others(54): Show HG00280.hp1 HG01106.hp2 HG01255.hp1 HG01361.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02135.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp2 HG03540.hp2 HG03927.hp2 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18945.hp1 NA18950.hp1 NA18971.hp1 NA18974.hp2 NA18979.hp1 NA18990.hp2 NA19005.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp1 NA19060.hp1 NA19066.hp2 NA19077.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0005 a0006 a0007 a0012 a0014 a0019 a0026 a0028 a0036 a0041 a0045 a0050 a0052 a0053 a0057 a0064	a0001c0001 a0002c0003 a0002c0011 others(19): Show a0001c0001 a0002c0003 a0002c0011 a0003c0002 a0003c0038 a0005c0006 a0005c0008 a0006c0005 a0007c0007 a0012c0015 a0014c0017 a0019c0020 a0026c0041 a0028c0043 a0036c0050 a0041c0054 a0045c0053 a0050c0063 a0052c0030 a0053c0031 a0057c0034 a0064c0076	a0001c0001t0003 a0002c0003t0003 a0002c0003t0007 others(24): Show a0001c0001t0003 a0002c0003t0003 a0002c0003t0007 a0002c0011t0003 a0003c0002t0003 a0003c0038t0007 a0005c0006t0003 a0005c0006t0008 a0005c0008t0003 a0006c0005t0003 a0007c0007t0003 a0007c0007t0012 a0012c0015t0003 a0012c0015t0007 a0014c0017t0003 a0014c0017t0007 a0019c0020t0007 a0026c0041t0003 a0028c0043t0013 a0036c0050t0003 a0041c0054t0008 a0045c0053t0003 a0050c0063t0001 a0052c0030t0003 a0053c0031t0008 a0057c0034t0007 a0064c0076t0003	a0001c0001t0003g0077 a0001c0001t0003g0084 a0001c0001t0003g0209 others(54): Show a0001c0001t0003g0077 a0001c0001t0003g0084 a0001c0001t0003g0209 a0002c0003t0003g0094 a0002c0003t0003g0220 a0002c0003t0003g0223 a0002c0003t0003g0224 a0002c0003t0007g0116 a0002c0011t0003g0002 a0002c0011t0003g0003 a0002c0011t0003g0057 a0002c0011t0003g0133 a0002c0011t0003g0160 a0003c0002t0003g0056 a0003c0038t0007g0144 a0005c0006t0003g0004 a0005c0006t0003g0038 a0005c0006t0003g0079 a0005c0006t0003g0145 a0005c0006t0003g0146 a0005c0006t0003g0202 a0005c0006t0008g0161 a0005c0006t0008g0185 a0005c0006t0008g0243 a0005c0006t0008g0269 a0005c0008t0003g0051 a0005c0008t0003g0138 a0005c0008t0003g0175 a0005c0008t0003g0201 a0005c0008t0003g0203 a0006c0005t0003g0170 a0007c0007t0003g0072 a0007c0007t0003g0085 a0007c0007t0003g0210 a0007c0007t0003g0229 a0007c0007t0003g0266 a0007c0007t0003g0270 a0007c0007t0012g0158 a0012c0015t0003g0241 a0012c0015t0003g0242 a0012c0015t0007g0239 a0012c0015t0007g0245 a0014c0017t0003g0053 a0014c0017t0007g0075 a0014c0017t0007g0169 a0019c0020t0007g0080 a0019c0020t0007g0097 a0026c0041t0003g0093 a0028c0043t0013g0230 a0036c0050t0003g0190 a0041c0054t0008g0196 a0045c0053t0003g0227 a0050c0063t0001g0271 a0052c0030t0003g0246 a0053c0031t0008g0249 a0057c0034t0007g0240 a0064c0076t0003g0251	57	272	0.2096	-43	c.630 others(60): Show c.6302-416_6302-374delGCTCTTTCCTCGCTGGTGTCTCGAATCT ACCATCTCACCACCA		CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	21/21						chr6	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667003	GAAAGAAA others(36): Show GAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0038 a0002c0003t0038	a0002c0003t0038g0221 a0002c0003t0038g0221	1	238	0.0042	-43	c.-39 others(64): Show c.-391-65181_-391-65139delTTTCTTCCTTCCTTCCTTCCTTCC TTCCTTTCTTTCTTTCTTT		CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8						chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19667007	GAAAGAAA others(36): Show GAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0039 a0001c0007t0039	a0001c0007t0039g0041 a0001c0007t0039g0041	1	238	0.0042	-43	c.-39 others(64): Show c.-391-65185_-391-65143delTTTCTTTCTTCCTTCCTTCCTTCC TTCCTTCCTTTCTTTCTTT		CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3408491	ACTGAAAA others(36): Show ACTGAAAACGTGTGCCAAATATTATAATTTCTAGTTATAATTTT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02258.hp2 HG02451.hp1 others(5): Show HG01255.hp1 HG02258.hp2 HG02451.hp1 HG02572.hp1 HG02622.hp1 HG02723.hp1 HG03579.hp1 HG06807.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0024 a0033	a0001c0115 a0002c0030 a0002c0031 others(5): Show a0001c0115 a0002c0030 a0002c0031 a0002c0035 a0002c0051 a0006c0116 a0024c0038 a0033c0042	a0001c0115t0042 a0002c0030t0016 a0002c0031t0015 others(5): Show a0001c0115t0042 a0002c0030t0016 a0002c0031t0015 a0002c0035t0047 a0002c0051t0006 a0006c0116t0004 a0024c0038t0075 a0033c0042t0004	a0001c0115t0042g0055 a0002c0030t0016g0122 a0002c0031t0015g0001 others(5): Show a0001c0115t0042g0055 a0002c0030t0016g0122 a0002c0031t0015g0001 a0002c0035t0047g0076 a0002c0051t0006g0081 a0006c0116t0004g0039 a0024c0038t0075g0067 a0033c0042t0004g0004	8	126	0.0635	-43	c.174 others(60): Show c.1745-309_1745-267delAAAATTATAACTAGAAATTATAATATTT GGCACACGTTTTCAG		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	13/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3558024	GGTGCCTC others(36): Show GGTGCCTCAGAAGTAACCCGTGTCCACTCCTCTGATGATGAATA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0072 a0002c0072	a0002c0072t0003 a0002c0072t0003	a0002c0072t0003g0066 a0002c0072t0003g0066	1	126	0.0079	-43	c.134 others(64): Show c.1344+16878_1344+16920delTATTCATCATCAGAGGAGTGGACA CGGGTTACTTCTGAGGCAC		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3558123	TACCCCGT others(36): Show TACCCCGTGTCCACTCCTCCAATGATGAATGGTGCCTCAATAGC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0078 a0001c0019t0078	a0001c0019t0078g0105 a0001c0019t0078g0105	1	126	0.0079	-43	c.134 others(64): Show c.1344+16779_1344+16821delGCTATTGAGGCACCATTCATCATT GGAGGAGTGGACACGGGGT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3558305	TCACTCCT others(36): Show TCACTCCTCCAATGATGAATGATGCCTCAGTAGTACCCCGTGTC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01934.hp2 HG00438.hp2 HG01934.hp2	a0001 a0004 a0001 a0004	a0001c0081 a0004c0099 a0001c0081 a0004c0099	a0001c0081t0037 a0004c0099t0014 a0001c0081t0037 a0004c0099t0014	a0001c0081t0037g0030 a0004c0099t0014g0020 a0001c0081t0037g0030 a0004c0099t0014g0020	2	126	0.0159	-43	c.134 others(64): Show c.1344+16597_1344+16639delGACACGGGGTACTACTGAGGCATC ATTCATCATTGGAGGAGTG		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3558326	ATGCCTCA others(36): Show ATGCCTCAGTAGTACCCCGTGTCCACTCCTCCAATGATGAATGG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0063 a0001c0004t0063	a0001c0004t0063g0095 a0001c0004t0063g0095	1	126	0.0079	-43	c.134 others(64): Show c.1344+16576_1344+16618delCCATTCATCATTGGAGGAGTGGAC ACGGGGTACTACTGAGGCA		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3558571	GCAATGAT others(36): Show GCAATGATGAATGGTGTCTCAATAGTACCCCGTGTCCACTCCTC	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01884.hp1 HG01261.hp2 HG01884.hp1	a0001 a0016 a0001 a0016	a0001c0046 a0016c0063 a0001c0046 a0016c0063	a0001c0046t0073 a0016c0063t0010 a0001c0046t0073 a0016c0063t0010	a0001c0046t0073g0091 a0016c0063t0010g0045 a0001c0046t0073g0091 a0016c0063t0010g0045	2	126	0.0159	-43	c.134 others(64): Show c.1344+16331_1344+16373delGAGGAGTGGACACGGGGTACTATT GAGACACCATTCATCATTG		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3558583	GGTGTCTC others(36): Show GGTGTCTCAATAGTACCCCGTGTCCACTCCTCCAATGATGAATA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG02451.hp2 others(8): Show HG01884.hp2 HG02280.hp1 HG02451.hp2 HG02559.hp1 HG02622.hp1 HG02647.hp1 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 NA19240.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0011 a0029 a0038	a0001c0002 a0001c0004 a0001c0033 others(8): Show a0001c0002 a0001c0004 a0001c0033 a0001c0045 a0002c0022 a0002c0030 a0002c0053 a0003c0058 a0011c0110 a0029c0028 a0038c0066	a0001c0002t0028 a0001c0004t0020 a0001c0033t0003 others(8): Show a0001c0002t0028 a0001c0004t0020 a0001c0033t0003 a0001c0045t0012 a0002c0022t0036 a0002c0030t0016 a0002c0053t0022 a0003c0058t0057 a0011c0110t0074 a0029c0028t0024 a0038c0066t0010	a0001c0002t0028g0005 a0001c0004t0020g0086 a0001c0033t0003g0059 others(8): Show a0001c0002t0028g0005 a0001c0004t0020g0086 a0001c0033t0003g0059 a0001c0045t0012g0010 a0002c0022t0036g0048 a0002c0030t0016g0122 a0002c0053t0022g0041 a0003c0058t0057g0117 a0011c0110t0074g0082 a0029c0028t0024g0040 a0038c0066t0010g0032	11	126	0.0873	-43	c.134 others(64): Show c.1344+16319_1344+16361delTATTCATCATTGGAGGAGTGGACA CGGGGTACTATTGAGACAC		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3558587	TCTCAATA others(36): Show TCTCAATAGTACCCCGTGTCCACTCCTCCAATGATGAATAGTGC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02572.hp1 HG03209.hp1 others(5): Show HG01243.hp2 HG02572.hp1 HG03209.hp1 HG03516.hp2 HG03710.hp1 NA18982.hp1 NA19030.hp1 NA19030.hp2	a0001 a0004 a0012 others(3): Show a0001 a0004 a0012 a0017 a0033 a0035	a0001c0006 a0001c0019 a0001c0020 others(5): Show a0001c0006 a0001c0019 a0001c0020 a0004c0086 a0012c0104 a0017c0106 a0033c0042 a0035c0098	a0001c0006t0060 a0001c0019t0078 a0001c0020t0016 others(5): Show a0001c0006t0060 a0001c0019t0078 a0001c0020t0016 a0004c0086t0002 a0012c0104t0071 a0017c0106t0012 a0033c0042t0004 a0035c0098t0025	a0001c0006t0060g0103 a0001c0019t0078g0105 a0001c0020t0016g0065 others(5): Show a0001c0006t0060g0103 a0001c0019t0078g0105 a0001c0020t0016g0065 a0004c0086t0002g0118 a0012c0104t0071g0058 a0017c0106t0012g0042 a0033c0042t0004g0004 a0035c0098t0025g0019	8	126	0.0635	-43	c.134 others(64): Show c.1344+16315_1344+16357delGCACTATTCATCATTGGAGGAGTG GACACGGGGTACTATTGAG		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	4920889	AAGAAAAG others(36): Show AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA18979.hp1 HG02622.hp1 NA18979.hp1	a0002 a0002	a0002c0030 a0002c0036 a0002c0030 a0002c0036	a0002c0030t0016 a0002c0036t0029 a0002c0030t0016 a0002c0036t0029	a0002c0030t0016g0122 a0002c0036t0029g0009 a0002c0030t0016g0122 a0002c0036t0029g0009	2	126	0.0159	-43	c.85+ others(60): Show c.85+73400_85+73442delCTCTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	4920907	AAAAGAAA others(36): Show AAAAGAAAAGAAAAGAAAAGAAAGAGAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0082 a0008c0008t0082	a0008c0008t0082g0126 a0008c0008t0082g0126	1	126	0.0079	-43	c.85+ others(60): Show c.85+73382_85+73424delCTTTCTTTCTTTCTTTCTCTCTTTCTTT TCTTTTCTTTTCTTT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69						chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542641	TATATATA others(36): Show TATATATATATATATATATATATATATATATGTATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	390	0.0026	-43	c.230 others(60): Show c.230+7391_230+7433delTATATATATATACATATATATATATATA TATATATATATATAT		CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9						chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149542645	TATATATA others(36): Show TATATATATATATATATATATATATATGTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	390	0.0026	-43	c.230 others(60): Show c.230+7387_230+7429delTATATATATATATATACATATATATATA TATATATATATATAT		CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9						chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149542649	TATATATA others(36): Show TATATATATATATATATATATATGTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA19010.hp1 NA18955.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0048 a0001c0001t0019g0049 a0001c0001t0001g0048 a0001c0001t0019g0049	2	390	0.0051	-43	c.230 others(60): Show c.230+7383_230+7425delTATATATATATATATATATACATATATA TATATATATATATAT		CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9						chr5	TogoVar
CSNK1A1_chr5_149487982_149556439	149542654	ATATATAT others(36): Show ATATATATATATATATATGTATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0101 a0001c0001t0001g0102	2	390	0.0051	-43	c.230 others(60): Show c.230+7378_230+7420delAAAAATATATATATATATATATATACAT ATATATATATATATA		CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9						chr5	TogoVar
CSNK1G2_chr19_1936172_1986338	1959598	CCACCCTG others(36): Show CCACCCTGAGTCCCCCAGCACCCGTGCCACCTTTAGTGCCACCG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA18971.hp2 NA20129.hp2 HG02055.hp2 NA18971.hp2 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0017 a0002c0003t0003g0018 a0002c0003t0003g0054 a0002c0003t0003g0017 a0002c0003t0003g0018 a0002c0003t0003g0054	3	382	0.0079	-43	c.-26 others(62): Show c.-265-9909_-265-9867delCACCCTGAGTCCCCCAGCACCCGTGC CACCTTTAGTGCCACCG		CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11						chr19	TogoVar
CSNK1G2_chr19_1936172_1986338	1963293	GCTCCACC others(36): Show GCTCCACCTCCCGGGTTCATGCCATTCTCCTGCCTCACCCTCCC	G G	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	382	0.0026	-43	c.-26 others(62): Show c.-265-6214_-265-6172delCTCCACCTCCCGGGTTCATGCCATTC TCCTGCCTCACCCTCCC		CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11						chr19	TogoVar
CTNNA2_chr2_79508051_80653780	80079839	AAATAAAA others(36): Show AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	68	0.0147	-43	c.105 others(66): Show c.1056+170059_1056+170101delATAAAATAAAATAAAATAAAAT AAAATAATAAAATAAAATAAA		CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	7/18					INFO_REALIGN_3_PRIME	chr2	TogoVar
CTU2_chr16_88701503_88720396	88712963	GCCCCCTT others(36): Show GCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0014 a0014	a0014c0027 a0014c0027	a0014c0027t0001 a0014c0027t0001	a0014c0027t0001g0179 a0014c0027t0001g0179	1	418	0.0024	-43	c.737 others(58): Show c.737+137_737+179delCTGAGAGCCCCCCTTCCCCGGGCCCTGACC CCCACTCATGCCC		CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
CUL4A_chr13_113204613_113272108	113262779	ACTTATAC others(36): Show ACTTATACGTGCCCTTGCTGATGGCAGATGTCGGATCTGCCTCG	A A	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	396	0.0025	-43	c.218 others(60): Show c.2185-545_2185-503delATCTGCCTCGCTTATACGTGCCCTTGCT GATGGCAGATGTCGG		CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	19/19					INFO_REALIGN_3_PRIME	chr13	TogoVar

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