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
C8orf34_chr8_68325955_68824023	68822435	AAATACTT others(16): Show AAATACTTACTGAACAGCCACTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	126	0.0079	-23	c.41 others(34): Show c.4190_*4212delAATACTTACTGAACAGCCACTAT	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding		3413		chr8	TogoVar
C9_chr5_39279140_39369495	39362444	AGGAGGGA others(16): Show AGGAGGGACCCTTCCCAGAGTATC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0360 a0002c0002t0001g0360	1	392	0.0026	-23	c.77+ others(38): Show c.77+1921_77+1943delGATACTCTGGGAAGGGTCCCTCC	C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding	1/10			chr5	TogoVar
C9orf72_chr9_27541546_27578481	27565609	ATTTAAAA others(16): Show ATTTAAAAAAACAACCCACAACAT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG02080.hp2 others(11): Show HG00423.hp1 HG00438.hp2 HG02080.hp2 NA18940.hp2 NA18955.hp1 NA18970.hp2 NA18975.hp2 NA18978.hp2 NA18999.hp2 NA19006.hp2 NA19007.hp2 NA19055.hp1 NA19065.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0002t0003 a0001c0001t0003 a0001c0002t0002 a0001c0002t0003	a0001c0001t0003g0164 a0001c0002t0002g0009 a0001c0002t0002g0076 others(5): Show a0001c0001t0003g0164 a0001c0002t0002g0009 a0001c0002t0002g0076 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0228 a0001c0002t0003g0235 a0001c0002t0003g0236	14	436	0.0321	-23	c.445 others(36): Show c.445-42_445-20delATGTTGTGGGTTGTTTTTTTAAA	C9orf72	ENSG00000147894.17	transcript	ENST00000380003.8	protein_coding	2/10			chr9	TogoVar
CA6_chr1_8940868_8980092	8955616	GCACGCCT others(16): Show GCACGCCTCCTTTTAAGGCCCTTC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02040.hp2 HG02135.hp1 others(14): Show HG01884.hp1 HG02040.hp2 HG02135.hp1 HG02155.hp2 HG02630.hp2 NA18946.hp1 NA18950.hp1 NA18968.hp1 NA18978.hp2 NA18988.hp2 NA18991.hp1 NA19055.hp1 NA19065.hp2 NA19070.hp2 NA19078.hp2 NA19088.hp2 NA19091.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0007 a0001c0001 a0001c0002 a0004c0007	a0001c0001t0001 a0001c0002t0001 a0004c0007t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0004c0007t0001 a0004c0007t0009	a0001c0001t0001g0029 a0001c0001t0001g0140 a0001c0001t0001g0142 others(13): Show a0001c0001t0001g0029 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0268 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0002t0001g0237 a0001c0002t0001g0381 a0004c0007t0001g0378 a0004c0007t0009g0214	17	128	0.1328	-23	c.260 others(40): Show c.260-1496_260-1474delACGCCTCCTTTTAAGGCCCTTCC	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CA6_chr1_8940868_8980092	8973761	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02148.hp1 HG02257.hp2 others(7): Show HG01975.hp1 HG02148.hp1 HG02257.hp2 HG03942.hp1 NA18945.hp2 NA18953.hp2 NA18982.hp1 NA19004.hp1 NA19055.hp2 NA19076.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0006 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0002t0001 a0002c0003t0005 a0003c0006t0001 a0003c0006t0005 a0005c0015t0001	a0001c0001t0001g0208 a0001c0001t0002g0364 a0001c0001t0002g0370 others(6): Show a0001c0001t0001g0208 a0001c0001t0002g0364 a0001c0001t0002g0370 a0001c0001t0013g0169 a0001c0002t0001g0303 a0002c0003t0005g0066 a0003c0006t0001g0003 a0003c0006t0005g0163 a0005c0015t0001g0044	10	450	0.0222	-23	c.845 others(38): Show c.845-858_845-836delCTTTCTTTCTTTCTTTCTTTCTT	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAB39L_chr13_49303650_49449064	49329545	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp1 HG02451.hp2 others(4): Show HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02572.hp2 HG02630.hp2 HG02818.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0002t0006 a0001c0001t0002 a0001c0001t0006 a0001c0002t0006	a0001c0001t0002g0258 a0001c0001t0006g0099 a0001c0001t0006g0132 others(4): Show a0001c0001t0002g0258 a0001c0001t0006g0099 a0001c0001t0006g0132 a0001c0001t0006g0135 a0001c0001t0006g0280 a0001c0001t0006g0282 a0001c0002t0006g0288	7	191	0.0366	-23	c.834 others(40): Show c.834+2379_834+2401delATATATATATATATATATATATA	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CAB39_chr2_230707842_230826075	230748826	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0334 a0001c0001t0002g0334	1	325	0.0031	-23	c.-43 others(42): Show c.-43-11131_-43-11109delAAAAATATATATATATATATATA	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CABLES2_chr20_62383634_62412285	62398209	TGATGTGA others(16): Show TGATGTGATGGTGGTGGTGGTGAC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0022 a0003c0006t0022	a0003c0006t0022g0221 a0003c0006t0022g0221	1	398	0.0025	-23	c.363 others(40): Show c.363-1640_363-1618delGTCACCACCACCACCATCACATC	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CABS1_chr4_70329981_70342116	70334335	AAAAAAAA others(16): Show AAAAAAAACAAAAAACAAAAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG03688.hp2 NA18976.hp1 HG01123.hp2 HG03688.hp2 NA18976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	3	436	0.0069	-23	c.-70 others(32): Show c.-704_-682delAAAAAAACAAAAAACAAAAAAAG	CABS1	ENSG00000145309.6	transcript	ENST00000273936.6	protein_coding		645		chr4	TogoVar
CACNA1A_chr19_13201442_13511479	13346643	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02717.hp1 HG02896.hp2 others(1): Show HG02451.hp2 HG02717.hp1 HG02896.hp2 HG02970.hp2	a0001 a0004 a0018 a0001 a0004 a0018	a0001c0001 a0004c0093 a0018c0017 a0001c0001 a0004c0093 a0018c0017	a0001c0001t0001 a0004c0093t0001 a0018c0017t0004 a0001c0001t0001 a0004c0093t0001 a0018c0017t0004	a0001c0001t0001g0022 a0001c0001t0001g0038 a0004c0093t0001g0044 others(1): Show a0001c0001t0001g0022 a0001c0001t0001g0038 a0004c0093t0001g0044 a0018c0017t0004g0216	4	216	0.0185	-23	c.979 others(42): Show c.979-10757_979-10735delTATATATATATATATATATATAT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346646	ATATATAT others(16): Show ATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02602.hp1 HG02698.hp1 others(3): Show HG01261.hp2 HG02602.hp1 HG02698.hp1 HG02698.hp2 HG03669.hp1 HG03704.hp2	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0009 a0013	a0002c0114 a0003c0110 a0004c0007 others(2): Show a0002c0114 a0003c0110 a0004c0007 a0009c0014 a0013c0115	a0002c0114t0002 a0003c0110t0002 a0004c0007t0001 others(2): Show a0002c0114t0002 a0003c0110t0002 a0004c0007t0001 a0009c0014t0002 a0013c0115t0001	a0002c0114t0002g0189 a0003c0110t0002g0137 a0004c0007t0001g0098 others(3): Show a0002c0114t0002g0189 a0003c0110t0002g0137 a0004c0007t0001g0098 a0009c0014t0002g0048 a0009c0014t0002g0195 a0013c0115t0001g0068	6	202	0.0297	-23	c.979 others(42): Show c.979-10760_979-10738delAAATATATATATATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346656	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0204 a0001c0005t0001g0204	1	210	0.0048	-23	c.979 others(42): Show c.979-10770_979-10748delAAAAAAAAAAAAATATATATATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13376807	TATGTTAT others(16): Show TATGTTATGTGTGATATATAACAC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp2 HG00639.hp2 others(45): Show HG00438.hp1 HG00609.hp2 HG00639.hp2 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01256.hp2 HG01257.hp2 HG01884.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02040.hp1 HG02109.hp2 HG02165.hp2 HG02273.hp2 HG02451.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02896.hp2 HG02970.hp1 HG02970.hp2 HG03130.hp2 HG03195.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03704.hp1 HG03834.hp2 HG06807.hp2 NA18522.hp2 NA18955.hp1 NA18977.hp1 NA18979.hp2 NA19012.hp1 NA19084.hp2 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0007 a0008 a0010 a0012 a0013 a0018 a0019 a0041	a0001c0001 a0001c0004 a0001c0005 others(34): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0018 a0001c0026 a0001c0034 a0001c0049 a0001c0125 a0002c0002 a0002c0010 a0002c0030 a0002c0032 a0002c0050 a0002c0104 a0002c0117 a0002c0124 a0003c0015 a0003c0035 a0003c0054 a0003c0055 a0003c0073 a0003c0077 a0003c0084 a0003c0094 a0003c0108 a0004c0093 a0004c0123 a0007c0012 a0008c0029 a0010c0107 a0010c0128 a0012c0023 a0013c0111 a0018c0017 a0019c0090 a0041c0063	a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 others(36): Show a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0006t0013 a0001c0018t0001 a0001c0026t0001 a0001c0034t0001 a0001c0049t0001 a0001c0125t0003 a0002c0002t0002 a0002c0010t0002 a0002c0030t0002 a0002c0032t0002 a0002c0050t0002 a0002c0104t0018 a0002c0117t0001 a0002c0124t0002 a0003c0015t0002 a0003c0035t0002 a0003c0035t0011 a0003c0054t0004 a0003c0055t0019 a0003c0073t0003 a0003c0077t0003 a0003c0084t0002 a0003c0094t0002 a0003c0108t0005 a0004c0093t0001 a0004c0123t0001 a0007c0012t0002 a0008c0029t0002 a0010c0107t0007 a0010c0128t0001 a0012c0023t0002 a0013c0111t0001 a0018c0017t0004 a0019c0090t0002 a0041c0063t0002	a0001c0001t0001g0015 a0001c0001t0001g0038 a0001c0001t0001g0117 others(45): Show a0001c0001t0001g0015 a0001c0001t0001g0038 a0001c0001t0001g0117 a0001c0001t0001g0154 a0001c0004t0001g0043 a0001c0004t0001g0080 a0001c0004t0001g0114 a0001c0004t0001g0145 a0001c0004t0001g0158 a0001c0005t0001g0179 a0001c0006t0001g0217 a0001c0006t0013g0136 a0001c0018t0001g0031 a0001c0018t0001g0062 a0001c0026t0001g0147 a0001c0034t0001g0079 a0001c0049t0001g0013 a0001c0125t0003g0213 a0002c0002t0002g0094 a0002c0010t0002g0057 a0002c0030t0002g0165 a0002c0032t0002g0087 a0002c0050t0002g0088 a0002c0104t0018g0156 a0002c0117t0001g0072 a0002c0124t0002g0132 a0003c0015t0002g0119 a0003c0035t0002g0077 a0003c0035t0011g0005 a0003c0054t0004g0053 a0003c0055t0019g0071 a0003c0073t0003g0035 a0003c0077t0003g0023 a0003c0084t0002g0141 a0003c0094t0002g0208 a0003c0108t0005g0210 a0004c0093t0001g0044 a0004c0123t0001g0078 a0007c0012t0002g0016 a0008c0029t0002g0169 a0010c0107t0007g0004 a0010c0128t0001g0139 a0012c0023t0002g0187 a0013c0111t0001g0209 a0018c0017t0004g0211 a0018c0017t0004g0216 a0019c0090t0002g0161 a0041c0063t0002g0196	48	215	0.2233	-23	c.540 others(40): Show c.540-5051_540-5029delGTGTTATATATCACACATAACAT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13457834	CAAAAGCA others(16): Show CAAAAGCAAAACTCCGTTTCAAAA	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02109.hp1 HG02723.hp2 others(3): Show HG01123.hp2 HG02109.hp1 HG02723.hp2 HG03225.hp2 NA20129.hp2 NA20300.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0005 a0001c0016 a0001c0071 others(2): Show a0001c0005 a0001c0016 a0001c0071 a0003c0105 a0006c0009	a0001c0005t0001 a0001c0016t0001 a0001c0071t0003 others(2): Show a0001c0005t0001 a0001c0016t0001 a0001c0071t0003 a0003c0105t0006 a0006c0009t0005	a0001c0005t0001g0204 a0001c0016t0001g0047 a0001c0016t0001g0076 others(3): Show a0001c0005t0001g0204 a0001c0016t0001g0047 a0001c0016t0001g0076 a0001c0071t0003g0138 a0003c0105t0006g0143 a0006c0009t0005g0153	6	216	0.0278	-23	c.294 others(40): Show c.294-2645_294-2623delTTTTGAAACGGAGTTTTGCTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497502	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0158 a0001c0004t0001g0158	1	215	0.0047	-23	c.293 others(40): Show c.293+8407_293+8429delATATTTTTTTTTTTTTTTTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497516	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0125 a0001c0125	a0001c0125t0003 a0001c0125t0003	a0001c0125t0003g0213 a0001c0125t0003g0213	1	205	0.0049	-23	c.293 others(40): Show c.293+8393_293+8415delATATATATATATATATATTTTTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497520	AAATATAT others(16): Show AAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA19000.hp2 HG03831.hp2 NA19000.hp2	a0007 a0008 a0007 a0008	a0007c0008 a0008c0121 a0007c0008 a0008c0121	a0007c0008t0002 a0008c0121t0002 a0007c0008t0002 a0008c0121t0002	a0007c0008t0002g0027 a0008c0121t0002g0042 a0007c0008t0002g0027 a0008c0121t0002g0042	2	194	0.0103	-23	c.293 others(40): Show c.293+8389_293+8411delATATATATATATATATATATATT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1C_chr12_2047987_2702950	2110936	TACCTGTC others(16): Show TACCTGTCTCACCCGAGAGGCCAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03139.hp2 HG02572.hp1 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0018 a0001c0006t0001 a0001c0003t0018 a0001c0006t0001	a0001c0003t0018g0073 a0001c0006t0001g0102 a0001c0003t0018g0073 a0001c0006t0001g0102	2	55	0.0364	-23	c.50- others(38): Show c.50-4242_50-4220delCACCTGTCTCACCCGAGAGGCCA	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	1/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1D_chr3_53489611_53818733	53520882	CTTTCTTT others(16): Show CTTTCTTTCTTTCTTTTCTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0183 a0001c0002t0034g0183	1	204	0.0049	-23	c.483 others(42): Show c.483+19170_483+19192delCTTTCTTTTCTTTTCTTTTCTTT	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	3/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1H_chr16_1148106_1226768	1199642	GCCCTCAC others(16): Show GCCCTCACCCCGGGGTCCCCTCAA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03098.hp2 HG02486.hp2 HG03098.hp2	a0002 a0003 a0002 a0003	a0002c0055 a0003c0060 a0002c0055 a0003c0060	a0002c0055t0001 a0003c0060t0036 a0002c0055t0001 a0003c0060t0036	a0002c0055t0001g0214 a0003c0060t0036g0317 a0002c0055t0001g0214 a0003c0060t0036g0317	2	336	0.0060	-23	c.804 others(38): Show c.804-600_804-578delGTCCCCTCAACCCTCACCCCGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	6/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1I_chr22_39565753_39694735	39596280	GCGGAGGG others(16): Show GCGGAGGGAGATGGGGGAGCAGGA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01358.hp2 HG01099.hp1 HG01358.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0012 a0001c0001 a0006c0012	a0001c0001t0004 a0006c0012t0004 a0001c0001t0004 a0006c0012t0004	a0001c0001t0004g0065 a0006c0012t0004g0031 a0001c0001t0004g0065 a0006c0012t0004g0031	2	200	0.0100	-23	c.237 others(40): Show c.237-1854_237-1832delAGCAGGACGGAGGGAGATGGGGG	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA2D2_chr3_50357613_50508634	50462755	TGGAAATG others(16): Show TGGAAATGGAGAGGAGGGGGCTGC	T T	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0228 a0001c0001t0026g0228	1	232	0.0043	-23	c.288 others(42): Show c.288+13340_288+13362delGCAGCCCCCTCCTCTCCATTTCC	CACNA2D2	ENSG00000007402.12	transcript	ENST00000424201.7	protein_coding	2/37			chr3	TogoVar
CACNB2_chr10_18135424_18548557	18481210	ATATATAT others(16): Show ATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0054 a0001c0002t0054	a0001c0002t0054g0151 a0001c0002t0054g0151	1	200	0.0050	-23	c.334 others(42): Show c.334-17143_334-17121delATATATATATATATATATATTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18135424_18548557	18524670	AAAAAATT others(16): Show AAAAAATTGAGCAAATAAAAAGTT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0130 a0001c0001t0032g0130	1	200	0.0050	-23	c.945 others(40): Show c.945-2917_945-2895delAAAAATTGAGCAAATAAAAAGTT	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	9/13			chr10	TogoVar
CACNB2_chr10_18335709_18548557	18481210	ATATATAT others(16): Show ATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0114 a0001c0002t0004g0114	1	300	0.0033	-23	c.172 others(42): Show c.172-17143_172-17121delATATATATATATATATATATTTT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18524670	AAAAAATT others(16): Show AAAAAATTGAGCAAATAAAAAGTT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0117 a0001c0001t0023g0117	1	300	0.0033	-23	c.783 others(40): Show c.783-2917_783-2895delAAAAATTGAGCAAATAAAAAGTT	CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	8/12			chr10	TogoVar
CACNG6_chr19_53986637_54017666	54004961	CAACACTT others(16): Show CAACACTTTGGGAGGCCGAGGCAG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02723.hp2 HG03041.hp1 others(2): Show HG02055.hp1 HG02723.hp2 HG03041.hp1 HG03209.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0004 a0001c0003t0036 a0001c0001t0003 a0001c0001t0004 a0001c0003t0036	a0001c0001t0003g0233 a0001c0001t0004g0174 a0001c0001t0004g0216 others(2): Show a0001c0001t0003g0233 a0001c0001t0004g0174 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0003t0036g0335	5	428	0.0117	-23	c.544 others(40): Show c.544+5191_544+5213delAACACTTTGGGAGGCCGAGGCAG	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding	3/3			chr19	TogoVar
CACNG7_chr19_53904278_53948950	53933182	ACTGCAAC others(16): Show ACTGCAACCTCCACCTCCTGGGTT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02809.hp2 HG02622.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0204 a0001c0001t0001g0205	2	364	0.0055	-23	c.425 others(40): Show c.425-8263_425-8241delTGCAACCTCCACCTCCTGGGTTC	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CADM1_chr11_115164236_115509415	115334444	AAATTGAT others(16): Show AAATTGATGAGTACAGTACTCATC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02818.hp1 HG02886.hp2 others(2): Show HG00735.hp2 HG02818.hp1 HG02886.hp2 HG03041.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0042 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0042 a0001c0001t0059 a0001c0002t0021	a0001c0001t0001g0053 a0001c0001t0002g0015 a0001c0001t0042g0019 others(2): Show a0001c0001t0001g0053 a0001c0001t0002g0015 a0001c0001t0042g0019 a0001c0001t0059g0017 a0001c0002t0021g0003	5	161	0.0311	-23	c.125 others(42): Show c.125-94047_125-94025delGATGAGTACTGTACTCATCAATT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115404345	AAATATAT others(16): Show AAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02300.hp1 HG02886.hp1 others(1): Show HG02165.hp1 HG02300.hp1 HG02886.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0024 a0001c0001t0049 others(1): Show a0001c0001t0005 a0001c0001t0024 a0001c0001t0049 a0001c0001t0054	a0001c0001t0005g0146 a0001c0001t0024g0130 a0001c0001t0049g0104 others(1): Show a0001c0001t0005g0146 a0001c0001t0024g0130 a0001c0001t0049g0104 a0001c0001t0054g0016	4	161	0.0248	-23	c.124 others(42): Show c.124+99903_124+99925delATATATATATATATATATATATT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115404347	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp2 HG01099.hp1 others(26): Show HG00642.hp1 HG00741.hp2 HG01099.hp1 HG01192.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01515.hp1 HG01884.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02647.hp2 HG02970.hp2 HG03098.hp1 HG03195.hp1 HG03490.hp1 HG03491.hp2 HG03540.hp2 HG04115.hp1 NA18955.hp2 NA18963.hp2 NA19010.hp1 NA19067.hp2 NA19070.hp2 NA19079.hp1 NA20129.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0028 a0001c0001t0033 a0001c0001t0035 a0001c0001t0037 a0001c0001t0050	a0001c0001t0001g0034 a0001c0001t0001g0060 a0001c0001t0001g0083 others(26): Show a0001c0001t0001g0034 a0001c0001t0001g0060 a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0002g0062 a0001c0001t0002g0144 a0001c0001t0002g0149 a0001c0001t0002g0157 a0001c0001t0003g0145 a0001c0001t0004g0076 a0001c0001t0004g0137 a0001c0001t0007g0054 a0001c0001t0007g0101 a0001c0001t0008g0106 a0001c0001t0012g0102 a0001c0001t0013g0099 a0001c0001t0014g0048 a0001c0001t0014g0067 a0001c0001t0028g0056 a0001c0001t0033g0082 a0001c0001t0035g0109 a0001c0001t0037g0064 a0001c0001t0050g0158	29	154	0.1883	-23	c.124 others(42): Show c.124+99901_124+99923delATATATATATATATATATATATA	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM2_chr3_84953989_86079429	85515559	ATTACAGG others(16): Show ATTACAGGAGAGTGCCACCACGCC	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02886.hp2 HG02976.hp2 others(1): Show HG02451.hp2 HG02886.hp2 HG02976.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0008 a0001c0002t0011 a0001c0001t0002 a0001c0001t0008 a0001c0002t0011	a0001c0001t0002g0144 a0001c0001t0008g0141 a0001c0002t0011g0140 others(1): Show a0001c0001t0002g0144 a0001c0001t0008g0141 a0001c0002t0011g0140 a0001c0002t0011g0143	4	146	0.0274	-23	c.62- others(42): Show c.62-210962_62-210940delTTACAGGAGAGTGCCACCACGCC	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9			chr3	TogoVar
CADM2_chr3_84953989_86079429	85897241	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA19030.hp1 NA18989.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0018 a0001c0001t0009g0037 a0001c0001t0001g0018 a0001c0001t0009g0037	2	10	0.2000	-23	c.529 others(42): Show c.529+10931_529+10953delTTTTTTTTTTTTTTTTTTTTTTT	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CADPS2_chr7_122313411_122891460	122399660	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02965.hp1 HG03017.hp1 others(5): Show HG01243.hp1 HG02965.hp1 HG03017.hp1 HG03139.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0003c0009t0006	a0001c0001t0001g0058 a0001c0001t0001g0090 a0001c0001t0001g0091 others(5): Show a0001c0001t0001g0058 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0003g0031 a0001c0001t0003g0117 a0001c0001t0008g0118 a0003c0009t0006g0122	8	37	0.2162	-23	c.274 others(42): Show c.2747-6101_2747-6079delAAAAAAAAAAAAAAAAAAAAAAA	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	20/29			chr7	TogoVar
CADPS2_chr7_122313411_122891460	122477019	AGAGGAGA others(16): Show AGAGGAGAGGAGAGGAGAGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA19240.hp1 HG03486.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0071 a0001c0001t0001g0073	2	124	0.0161	-23	c.186 others(42): Show c.1862-2525_1862-2503delCTCTCCTCTCCTCTCCTCTCCTC	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	12/29			chr7	TogoVar
CALML4_chr15_68185705_68210332	68198735	AATAGTTT others(16): Show AATAGTTTTTCTAAAAACTATTGC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp1 HG00621.hp1 others(64): Show HG00140.hp1 HG00558.hp1 HG00621.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01258.hp1 HG01261.hp1 HG01433.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG01981.hp2 HG01993.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02083.hp1 HG02148.hp1 HG02155.hp1 HG02273.hp1 HG02486.hp1 HG02523.hp1 HG02647.hp2 HG02698.hp1 HG02818.hp2 HG03209.hp2 HG03669.hp2 HG03710.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp2 HG04228.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18956.hp2 NA18963.hp2 NA18974.hp2 NA18979.hp1 NA18980.hp2 NA18983.hp2 NA18985.hp1 NA18998.hp2 NA19005.hp2 NA19011.hp1 NA19058.hp2 NA19070.hp2 NA19072.hp2 NA19084.hp2 NA19086.hp1 NA19088.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0004t0001 a0002c0002t0028	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0022 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0075 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0002g0032 a0001c0001t0008g0023 a0001c0001t0008g0070 a0001c0001t0018g0068 a0001c0001t0020g0083 a0001c0001t0021g0086 a0001c0001t0022g0066 a0001c0001t0024g0069 a0001c0004t0001g0096 a0002c0002t0028g0091	67	384	0.1745	-23	c.175 others(38): Show c.175+783_175+805delGCAATAGTTTTTAGAAAAACTAT	CALML4	ENSG00000129007.16	transcript	ENST00000467889.3	protein_coding	3/4			chr15	TogoVar
CALN1_chr7_71774491_72417338	71897994	AGAGAGAG others(16): Show AGAGAGAGAGGGAGGGAGGGGGGG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0003 a0001c0001t0011g0004 a0001c0001t0011g0003 a0001c0001t0011g0004	2	140	0.0143	-23	c.502 others(42): Show c.502-87525_502-87503delCCCCCCCTCCCTCCCTCTCTCTC	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	5/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72209526	CCCTCCCT others(16): Show CCCTCCCTCTCTCCGCCCTCCGTT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01109.hp1 HG01109.hp2 others(27): Show HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01255.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01934.hp1 HG01934.hp2 HG02080.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02486.hp2 HG02523.hp2 HG02683.hp1 HG02717.hp1 HG03130.hp1 HG03225.hp1 HG03704.hp2 HG06807.hp2 NA18961.hp1 NA18975.hp2 NA18990.hp2 NA19043.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0039 a0001c0001t0041 a0001c0001t0044 a0001c0001t0049 a0001c0001t0050 a0001c0001t0052 a0001c0001t0057	a0001c0001t0001g0034 a0001c0001t0001g0094 a0001c0001t0001g0101 others(27): Show a0001c0001t0001g0034 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0110 a0001c0001t0001g0126 a0001c0001t0002g0036 a0001c0001t0002g0074 a0001c0001t0002g0089 a0001c0001t0005g0009 a0001c0001t0005g0012 a0001c0001t0005g0014 a0001c0001t0006g0007 a0001c0001t0006g0017 a0001c0001t0008g0027 a0001c0001t0010g0114 a0001c0001t0012g0013 a0001c0001t0014g0046 a0001c0001t0015g0026 a0001c0001t0015g0042 a0001c0001t0016g0096 a0001c0001t0021g0083 a0001c0001t0022g0001 a0001c0001t0024g0008 a0001c0001t0039g0030 a0001c0001t0041g0084 a0001c0001t0044g0098 a0001c0001t0049g0130 a0001c0001t0050g0131 a0001c0001t0052g0133 a0001c0001t0057g0138	30	142	0.2113	-23	c.244 others(42): Show c.244+69137_244+69159delAACGGAGGGCGGAGAGAGGGAGG	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CALN1_chr7_71774491_72417338	72290079	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0129 a0001c0001t0048g0129	1	3	0.3333	-23	c.120 others(42): Show c.120-11292_120-11270delTTTTTTTTTTTTTTTTTTTTTTT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	2/6			chr7	TogoVar
CAMK1D_chr10_12344547_12840545	12691388	TATATATA others(16): Show TATATATATATATATAAATATATA	T T	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0210 a0001c0001t0075g0210	1	214	0.0047	-23	c.299 others(42): Show c.299+24579_299+24601delATATATATATATATAAATATATA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10			chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12691392	TATATATA others(16): Show TATATATATATAAATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0120 a0001c0001t0013g0120	1	210	0.0048	-23	c.299 others(42): Show c.299+24583_299+24605delATATATATATAAATATATATATA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10			chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12691394	TATATATA others(16): Show TATATATATAAATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18977.hp1 HG02559.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0048 a0001c0001t0013 a0001c0001t0048	a0001c0001t0013g0155 a0001c0001t0048g0182 a0001c0001t0013g0155 a0001c0001t0048g0182	2	212	0.0094	-23	c.299 others(42): Show c.299+24585_299+24607delATATATATAAATATATATATATA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10			chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12691396	TATATATA others(16): Show TATATATAAATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0121 a0001c0001t0071g0121	1	212	0.0047	-23	c.299 others(42): Show c.299+24587_299+24609delATATATAAATATATATATATATA	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10			chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12827449	TTCTTTTC others(16): Show TTCTTTTCTTTCTTTGTCTGTCTG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01975.hp2 HG02280.hp2 others(5): Show HG00323.hp1 HG01975.hp2 HG02280.hp2 HG02698.hp1 HG02922.hp2 HG03579.hp2 HG04184.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0022 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0022 a0001c0001t0035 a0001c0001t0036 a0001c0001t0091	a0001c0001t0002g0032 a0001c0001t0002g0206 a0001c0001t0003g0129 others(5): Show a0001c0001t0002g0032 a0001c0001t0002g0206 a0001c0001t0003g0129 a0001c0001t0022g0070 a0001c0001t0035g0106 a0001c0001t0035g0145 a0001c0001t0036g0022 a0001c0001t0091g0030	8	214	0.0374	-23	c.104 others(42): Show c.1040-1314_1040-1292delTCTTTCTTTGTCTGTCTGTCTTT	CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK4_chr5_111219384_111499886	111469155	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0030 a0001c0001t0096g0030	1	244	0.0041	-23	c.626 others(40): Show c.626-4154_626-4132delAAAAAAAAAAAAAAAAATATATA	CAMK4	ENSG00000152495.11	transcript	ENST00000282356.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
CAMKK1_chr17_3855315_3898053	3871333	GTTTTTTT others(16): Show GTTTTTTTTTTTTTGTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18961.hp1 NA18999.hp1 HG02257.hp2 NA18961.hp1 NA18999.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0002c0001 a0001c0002 a0001c0005 a0002c0001	a0001c0002t0004 a0001c0005t0054 a0002c0001t0004 a0001c0002t0004 a0001c0005t0054 a0002c0001t0004	a0001c0002t0004g0108 a0001c0005t0054g0175 a0002c0001t0004g0042 a0001c0002t0004g0108 a0001c0005t0054g0175 a0002c0001t0004g0042	3	363	0.0083	-23	c.112 others(42): Show c.1124+1198_1124+1220delAAAAAAAAACAAAAAAAAAAAAA	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	12/15			chr17	TogoVar
CAMTA1_chr1_6780454_7774706	7147832	AACTCATA others(16): Show AACTCATATACCATGCACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03041.hp1 HG03486.hp1 HG02257.hp1 HG03041.hp1 HG03486.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0004 a0001c0001t0008 a0005c0007t0014 a0001c0001t0004 a0001c0001t0008 a0005c0007t0014	a0001c0001t0004g0026 a0001c0001t0008g0003 a0005c0007t0014g0018 a0001c0001t0004g0026 a0001c0001t0008g0003 a0005c0007t0014g0018	3	58	0.0517	-23	c.302 others(42): Show c.302+56469_302+56491delTACCATGCACACACACACTCATA	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7172482	GGGAGGTG others(16): Show GGGAGGTGAAGGTATGCGGAGCAT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03130.hp1 HG01884.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0009 a0001c0002t0003g0007 a0001c0001t0002g0009 a0001c0002t0003g0007	2	58	0.0345	-23	c.303 others(42): Show c.303-77007_303-76985delGAGGTGAAGGTATGCGGAGCATG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAP1_chr1_40035729_40077648	40074871	GGTGGGCA others(16): Show GGTGGGCAAGCCATAGACGACACT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0222 a0001c0001t0003g0222	1	376	0.0027	-23	c.33 others(34): Show c.3339_*3361delGTGGGCAAGCCATAGACGACACT	CAP1	ENSG00000131236.18	transcript	ENST00000372805.8	protein_coding		2224		chr1	TogoVar
CAPN13_chr2_30717771_30812446	30738866	ATGTGTGT others(16): Show ATGTGTGTGTGTTGTGTGTATGTG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0228 a0001c0001t0007g0229 a0001c0001t0007g0228 a0001c0001t0007g0229	2	382	0.0052	-23	c.153 others(40): Show c.1537-432_1537-410delCACATACACACAACACACACACA	CAPN13	ENSG00000162949.16	transcript	ENST00000295055.12	protein_coding	15/22			chr2	TogoVar

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