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	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
CA13_chr8_85240458_85289073	85267667	TGGGACTA others(8): Show TGGGACTAAGCTGAAA	T T	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0123 a0001c0001t0025g0123	1	348	0.0029	-15	c.451 others(30): Show c.451-233_451-219delGGACTAAGCTGAAAG		CA13	ENSG00000185015.8	transcript	ENST00000321764.4	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr8	TogoVar
CA3_chr8_85433859_85454040	85450762	CATATATA others(8): Show CATATATATATTTACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	359	0.0028	-15	c.26 others(26): Show c.2610_*2624delATATATATATTTACA		CA3	ENSG00000164879.7	transcript	ENST00000285381.3	protein_coding					1723		chr8	TogoVar
CA4_chr17_60144973_60164546	60150654	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	85	0.0118	-15	c.58+ others(28): Show c.58+584_58+598delAAAAAAAAAAAAAAA		CA4	ENSG00000167434.10	transcript	ENST00000300900.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr17	TogoVar
CA5A_chr16_87883013_87941529	87885163	AAAAACAA others(8): Show AAAAACAAAACAAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03579.hp2 HG03831.hp2 HG03209.hp1 HG03579.hp2 HG03831.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0008 a0001c0002 a0004c0008	a0001c0002t0002 a0004c0008t0001 a0001c0002t0002 a0004c0008t0001	a0001c0002t0002g0390 a0004c0008t0001g0051 a0004c0008t0001g0053 a0001c0002t0002g0390 a0004c0008t0001g0051 a0004c0008t0001g0053	3	299	0.0100	-15	c.29 others(26): Show c.2951_*2965delGTTTTGTTTTGTTTT		CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding					2849		chr16	TogoVar
CA5A_chr16_87883013_87941529	87892510	AAATAATA others(8): Show AAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01099.hp1 others(8): Show HG01069.hp1 HG01071.hp2 HG01099.hp1 HG02055.hp2 HG02486.hp1 HG02615.hp2 HG02622.hp2 HG02717.hp2 HG02809.hp1 HG03834.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0049 a0001c0001t0001g0097 a0001c0001t0001g0190 others(8): Show a0001c0001t0001g0049 a0001c0001t0001g0097 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0364 a0001c0001t0001g0379 a0001c0001t0001g0381 a0002c0005t0001g0015 a0002c0005t0001g0024 a0002c0005t0001g0025	11	207	0.0531	-15	c.619 others(30): Show c.619-571_619-557delATTATTATTATTATT		CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding	5/6						chr16	TogoVar
CA5A_chr16_87883013_87941529	87899919	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00639.hp2 others(59): Show HG00323.hp2 HG00438.hp2 HG00639.hp2 HG00673.hp1 HG01070.hp1 HG01168.hp1 HG01257.hp1 HG01358.hp2 HG01515.hp2 HG01516.hp2 HG01891.hp2 HG02056.hp1 HG02083.hp2 HG02132.hp2 HG02155.hp2 HG02165.hp1 HG02523.hp2 HG02622.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02809.hp2 HG03017.hp1 HG03139.hp2 HG03239.hp2 HG03453.hp2 HG03491.hp1 HG03492.hp2 HG03579.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18522.hp1 NA18747.hp2 NA18953.hp2 NA18955.hp2 NA18963.hp1 NA18964.hp1 NA18969.hp1 NA18975.hp1 NA18979.hp2 NA18992.hp1 NA18997.hp2 NA19000.hp2 NA19005.hp2 NA19007.hp2 NA19030.hp2 NA19043.hp2 NA19064.hp1 NA19066.hp2 NA19074.hp2 NA19082.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0010 a0002c0011 a0003c0009	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0002 a0001c0004t0001 a0002c0010t0002 a0002c0011t0002 a0003c0009t0002	a0001c0001t0001g0180 a0001c0002t0001g0248 a0001c0002t0002g0033 others(59): Show a0001c0001t0001g0180 a0001c0002t0001g0248 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0088 a0001c0002t0002g0096 a0001c0002t0002g0114 a0001c0002t0002g0149 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0173 a0001c0002t0002g0178 a0001c0002t0002g0182 a0001c0002t0002g0188 a0001c0002t0002g0203 a0001c0002t0002g0210 a0001c0002t0002g0212 a0001c0002t0002g0215 a0001c0002t0002g0217 a0001c0002t0002g0227 a0001c0002t0002g0231 a0001c0002t0002g0240 a0001c0002t0002g0246 a0001c0002t0002g0252 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0269 a0001c0002t0002g0275 a0001c0002t0002g0281 a0001c0002t0002g0284 a0001c0002t0002g0285 a0001c0002t0002g0294 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0302 a0001c0002t0002g0305 a0001c0002t0002g0307 a0001c0002t0002g0323 a0001c0002t0002g0330 a0001c0002t0002g0332 a0001c0002t0002g0342 a0001c0002t0002g0353 a0001c0002t0002g0386 a0001c0002t0002g0390 a0001c0003t0002g0042 a0001c0003t0002g0055 a0001c0003t0002g0076 a0001c0003t0002g0091 a0001c0003t0002g0186 a0001c0003t0002g0218 a0001c0003t0002g0331 a0001c0003t0002g0378 a0001c0003t0002g0380 a0001c0003t0002g0382 a0001c0004t0001g0152 a0001c0004t0001g0322 a0002c0010t0002g0019 a0002c0011t0002g0020 a0003c0009t0002g0009	62	181	0.3425	-15	c.618 others(32): Show c.618+1978_618+1992delTTTTTTTTTTTTTTT		CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding	5/6						chr16	TogoVar
CA6_chr1_8940868_8980092	8946104	GTTGGCTC others(8): Show GTTGGCTCACTGCAAC	G G	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0047 a0002c0003t0001g0047	1	450	0.0022	-15	c.79+ others(28): Show c.79+140_79+154delTTGGCTCACTGCAAC		CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	1/7						chr1	TogoVar
CA6_chr1_8940868_8980092	8973769	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02055.hp2 HG02109.hp2 others(8): Show HG00544.hp2 HG02055.hp2 HG02109.hp2 HG02293.hp2 HG03704.hp1 NA18952.hp1 NA18961.hp1 NA18992.hp1 NA18994.hp2 NA19082.hp1 NA20752.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0011 others(4): Show a0001c0001 a0001c0002 a0001c0011 a0002c0003 a0003c0006 a0004c0007 a0004c0020	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0011t0001 a0002c0003t0002 a0003c0006t0001 a0004c0007t0001 a0004c0020t0001	a0001c0001t0001g0200 a0001c0001t0002g0352 a0001c0002t0001g0229 others(8): Show a0001c0001t0001g0200 a0001c0001t0002g0352 a0001c0002t0001g0229 a0001c0002t0001g0354 a0001c0002t0001g0357 a0001c0002t0001g0360 a0001c0011t0001g0017 a0002c0003t0002g0103 a0003c0006t0001g0003 a0004c0007t0001g0199 a0004c0020t0001g0046	11	450	0.0244	-15	c.845 others(30): Show c.845-850_845-836delCTTTCTTTCTTTCTT		CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
CA6_chr1_8940868_8980092	8978636	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG01109.hp1 HG01928.hp2 others(11): Show HG00438.hp2 HG01109.hp1 HG01928.hp2 HG02027.hp2 HG02559.hp2 HG02735.hp1 HG02818.hp1 NA18962.hp2 NA18972.hp2 NA19057.hp2 NA19076.hp1 NA19079.hp1 NA19087.hp1 NA19089.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0003c0004 a0004c0007 a0005c0009	a0001c0001t0001 a0001c0001t0012 a0001c0001t0013 others(8): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0013 a0001c0002t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0005t0001 a0003c0004t0001 a0004c0007t0001 a0005c0009t0001	a0001c0001t0001g0254 a0001c0001t0012g0281 a0001c0001t0013g0169 others(11): Show a0001c0001t0001g0254 a0001c0001t0012g0281 a0001c0001t0013g0169 a0001c0002t0001g0049 a0001c0002t0001g0248 a0001c0002t0001g0330 a0002c0003t0001g0102 a0002c0003t0002g0110 a0002c0003t0004g0089 a0002c0005t0001g0115 a0003c0004t0001g0151 a0003c0004t0001g0155 a0004c0007t0001g0297 a0005c0009t0001g0292	14	160	0.0875	-15	c.39 others(26): Show c.3933_*3947delAAAAAAAAAAAAAAA		CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding					3545		chr1	TogoVar
CAAP1_chr9_26835685_26897802	26850058	TTGATCTG others(8): Show TTGATCTGTGACCTCG	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01496.hp2 HG01891.hp1 others(18): Show HG01192.hp2 HG01496.hp2 HG01891.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02572.hp2 HG02886.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03516.hp1 HG03540.hp2 NA18906.hp1 NA19030.hp1 NA21309.hp2	a0002 a0006 a0002 a0006	a0002c0003 a0002c0007 a0006c0006 a0002c0003 a0002c0007 a0006c0006	a0002c0003t0001 a0002c0007t0011 a0006c0006t0001 a0002c0003t0001 a0002c0007t0011 a0006c0006t0001	a0002c0003t0001g0001 a0002c0003t0001g0021 a0002c0003t0001g0022 others(17): Show a0002c0003t0001g0001 a0002c0003t0001g0021 a0002c0003t0001g0022 a0002c0003t0001g0023 a0002c0003t0001g0024 a0002c0003t0001g0025 a0002c0003t0001g0026 a0002c0003t0001g0027 a0002c0003t0001g0030 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0035 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0038 a0002c0003t0001g0039 a0002c0007t0011g0029 a0006c0006t0001g0028	21	370	0.0568	-15	c.740 others(32): Show c.740-7426_740-7412delCGAGGTCACAGATCA		CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	5/5						chr9	TogoVar
CAAP1_chr9_26835685_26897802	26858226	AGAGATAT others(8): Show AGAGATATTAGATTTT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01256.hp2 HG02056.hp2 others(18): Show HG00733.hp1 HG01256.hp2 HG02056.hp2 HG02615.hp2 HG02630.hp2 HG02735.hp1 HG02738.hp2 HG02922.hp1 HG03239.hp2 HG03579.hp2 HG03654.hp2 HG03834.hp2 HG04199.hp1 HG06807.hp2 NA18957.hp2 NA18965.hp2 NA18994.hp2 NA19081.hp1 NA19087.hp2 NA19240.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0109 others(18): Show a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0010g0121	21	370	0.0568	-15	c.739 others(32): Show c.739+2825_739+2839delAAAATCTAATATCTC		CAAP1	ENSG00000120159.13	transcript	ENST00000333916.8	protein_coding	5/5						chr9	TogoVar
CAB39L_chr13_49303650_49449064	49329539	AAAAAAAT others(8): Show AAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0130 a0001c0002t0001g0130	1	321	0.0031	-15	c.834 others(32): Show c.834+2393_834+2407delATATATATATTTTTT		CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10						chr13	TogoVar
CAB39L_chr13_49303650_49449064	49329545	ATATATAT others(8): Show ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02809.hp1 HG02886.hp2 others(4): Show HG01496.hp2 HG02809.hp1 HG02886.hp2 HG03490.hp2 NA18991.hp1 NA18999.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0106 a0001c0001t0001g0239 a0001c0001t0001g0262 others(4): Show a0001c0001t0001g0106 a0001c0001t0001g0239 a0001c0001t0001g0262 a0001c0001t0001g0316 a0001c0002t0001g0061 a0001c0002t0001g0231 a0001c0002t0001g0249	7	191	0.0366	-15	c.834 others(32): Show c.834+2387_834+2401delATATATATATATATA		CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10						chr13	TogoVar
CAB39_chr2_230707842_230826075	230748824	AAAAAAAA others(8): Show AAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0214 a0001c0001t0003g0214	1	340	0.0029	-15	c.-43 others(34): Show c.-43-11133_-43-11119delAAAAAAATATATATA		CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230748826	AAAAAAAT others(8): Show AAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18966.hp2 NA18973.hp1 others(8): Show NA18943.hp1 NA18966.hp2 NA18973.hp1 NA18978.hp1 NA18990.hp1 NA18998.hp2 NA19003.hp2 NA19007.hp2 NA19074.hp2 NA19084.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 others(8): Show a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0213 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0220 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0006g0211 a0001c0001t0006g0217	11	335	0.0328	-15	c.-43 others(34): Show c.-43-11131_-43-11117delAAAAATATATATATA		CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230748828	AAAAATAT others(8): Show AAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG02486.hp1 others(3): Show HG01256.hp2 HG01258.hp2 HG02486.hp1 NA18947.hp1 NA18997.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0016 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0016 a0001c0001t0048	a0001c0001t0003g0180 a0001c0001t0003g0223 a0001c0001t0006g0192 others(3): Show a0001c0001t0003g0180 a0001c0001t0003g0223 a0001c0001t0006g0192 a0001c0001t0006g0194 a0001c0001t0016g0187 a0001c0001t0048g0037	6	337	0.0178	-15	c.-43 others(34): Show c.-43-11129_-43-11115delAAATATATATATATA		CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230748830	AAATATAT others(8): Show AAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0224 a0001c0001t0003g0224	1	339	0.0029	-15	c.-43 others(34): Show c.-43-11127_-43-11113delATATATATATATATA		CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230761888	TTTGTTGT others(8): Show TTTGTTGTTGTTGTTG	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0057 a0001c0001t0047g0057	1	151	0.0066	-15	c.114 others(32): Show c.114+1794_114+1808delGTTGTTGTTGTTGTT		CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
CAB39_chr2_230707842_230826075	230783442	AGTTTTGT others(8): Show AGTTTTGTTTTGTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01168.hp2 HG01169.hp1 others(7): Show HG00099.hp2 HG01168.hp2 HG01169.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01978.hp2 HG03239.hp1 HG03710.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0034 others(3): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0034 a0001c0001t0062 a0001c0001t0063 a0001c0001t0068	a0001c0001t0003g0195 a0001c0001t0006g0191 a0001c0001t0006g0192 others(7): Show a0001c0001t0003g0195 a0001c0001t0006g0191 a0001c0001t0006g0192 a0001c0001t0006g0194 a0001c0001t0006g0196 a0001c0001t0006g0201 a0001c0001t0034g0190 a0001c0001t0062g0200 a0001c0001t0063g0193 a0001c0001t0068g0199	10	18	0.5556	-15	c.115 others(32): Show c.115-7405_115-7391delTGTTTTGTTTTGTTT		CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
CABIN1_chr22_24006304_24183628	24049025	TAACTGGC others(8): Show TAACTGGCAAGGCCAG	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG00673.hp2 others(5): Show HG00408.hp1 HG00558.hp2 HG00673.hp2 NA18986.hp1 NA18989.hp1 NA18992.hp2 NA18997.hp1 NA19060.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0006 a0002c0002t0001 a0002c0002t0006	a0002c0002t0001g0167 a0002c0002t0001g0177 a0002c0002t0001g0181 others(5): Show a0002c0002t0001g0167 a0002c0002t0001g0177 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0188 a0002c0002t0001g0192 a0002c0002t0001g0216 a0002c0002t0006g0178	8	266	0.0301	-15	c.527 others(28): Show c.527-64_527-50delACTGGCAAGGCCAGA		CABIN1	ENSG00000099991.18	transcript	ENST00000263119.10	protein_coding	6/36					INFO_REALIGN_3_PRIME	chr22	TogoVar
CABLES2_chr20_62383634_62412285	62398074	TGGTGGTG others(8): Show TGGTGGTGGTGGTGAC	T T	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	397	0.0025	-15	c.363 others(32): Show c.363-1497_363-1483delGTCACCACCACCACC		CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9						chr20	TogoVar
CABLES2_chr20_62383634_62412285	62398171	AATGGTGG others(8): Show AATGGTGGTGGTGGTG	A A	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18946.hp1 NA18979.hp1 others(3): Show NA18945.hp1 NA18946.hp1 NA18979.hp1 NA18983.hp2 NA19088.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0021 a0001c0001t0001g0022	6	379	0.0158	-15	c.363 others(32): Show c.363-1594_363-1580delCACCACCACCACCAT		CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9						chr20	TogoVar
CABS1_chr4_70329981_70342116	70334335	AAAAAAAA others(8): Show AAAAAAAACAAAAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG02717.hp2 HG02922.hp2 others(5): Show HG01192.hp1 HG02717.hp2 HG02922.hp2 HG03041.hp2 HG03225.hp2 NA18906.hp2 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	8	441	0.0181	-15	c.-70 others(24): Show c.-704_-690delAAAAAAACAAAAAAC		CABS1	ENSG00000145309.6	transcript	ENST00000273936.6	protein_coding					645		chr4	TogoVar
CACFD1_chr9_133454978_133475848	133455593	AGTGCAGT others(8): Show AGTGCAGTCCAGTTAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	418	0.0024	-15	c.-44 others(26): Show c.-4473_-4459delGTGCAGTCCAGTTAT		CACFD1	ENSG00000160325.15	transcript	ENST00000316948.9	protein_coding					4384		chr9	TogoVar
CACHD1_chr1_64465129_64698053	64477584	GATTATTA others(8): Show GATTATTATTATTATT	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA20300.hp1 HG02922.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0013 a0001c0001t0012g0048 a0001c0001t0002g0013 a0001c0001t0012g0048	2	88	0.0227	-15	c.198 others(32): Show c.198+6670_198+6684delATTATTATTATTATT		CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64505847	TCGCCCCG others(8): Show TCGCCCCGCCCCGCCC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	133	0.0075	-15	c.198 others(34): Show c.198+34920_198+34934delCCGCCCCGCCCCGCC		CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr1	TogoVar
CACHD1_chr1_64465129_64698053	64675993	TTAATAAT others(8): Show TTAATAATAATAATAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00621.hp2 HG00642.hp1 others(25): Show HG00140.hp1 HG00621.hp2 HG00642.hp1 HG00741.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01192.hp1 HG01255.hp2 HG01261.hp1 HG02040.hp2 HG02056.hp1 HG02135.hp1 HG02135.hp2 HG02280.hp1 HG02293.hp1 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02622.hp2 HG02886.hp1 HG02976.hp2 HG03098.hp1 HG03486.hp1 NA18906.hp1 NA18948.hp1 NA19056.hp2 NA19060.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0003t0001 a0001c0003t0002 a0003c0007t0001	a0001c0001t0001g0061 a0001c0001t0004g0004 a0001c0001t0005g0070 others(25): Show a0001c0001t0001g0061 a0001c0001t0004g0004 a0001c0001t0005g0070 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0042 a0001c0002t0001g0086 a0001c0002t0001g0099 a0001c0002t0001g0102 a0001c0002t0001g0112 a0001c0002t0001g0158 a0001c0002t0002g0148 a0001c0002t0002g0154 a0001c0002t0003g0063 a0001c0002t0004g0003 a0001c0002t0004g0007 a0001c0002t0005g0069 a0001c0002t0007g0101 a0001c0003t0001g0034 a0001c0003t0001g0051 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0059 a0001c0003t0001g0085 a0001c0003t0002g0124 a0001c0003t0002g0143 a0001c0003t0002g0152 a0003c0007t0001g0041	28	46	0.6087	-15	c.297 others(30): Show c.2975+43_2975+57delATAATAATAATAATA		CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	21/26					INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1A_chr19_13201442_13511479	13207858	CCTGCTGC others(8): Show CCTGCTGCTGCTGCTG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG04204.hp2 HG04204.hp2	a0037 a0037	a0037c0068 a0037c0068	a0037c0068t0001 a0037c0068t0001	a0037c0068t0001g0171 a0037c0068t0001g0171	1	59	0.0169	-15	c.696 others(24): Show c.6961_6975delCAGCAGCAGCAGCAG	p.Gln others(15): Show p.Gln2321_Gln2325del	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	47/47	7230/8647	6961/7521	2321/2506			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13208164	AGGGAGGA others(8): Show AGGGAGGAGGGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0001 a0003c0015t0001	a0003c0015t0001g0018 a0003c0015t0001g0018	1	216	0.0046	-15	c.678 others(32): Show c.6781-126_6781-112delCCTCCCCCTCCTCCC		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	46/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13259328	TTTTTTTT others(8): Show TTTTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0002 a0003c0015t0002	a0003c0015t0002g0119 a0003c0015t0002g0119	1	216	0.0046	-15	c.438 others(32): Show c.4388+221_4388+235delCAAAAAAAAAAAAAA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	27/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310480	AAAAAAAA others(8): Show AAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01169.hp1 HG01257.hp1 others(1): Show HG01106.hp2 HG01169.hp1 HG01257.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0126 a0001c0001t0001g0181 others(1): Show a0001c0001t0001g0014 a0001c0001t0001g0126 a0001c0001t0001g0181 a0001c0001t0001g0218	4	215	0.0186	-15	c.166 others(34): Show c.1669-1967_1669-1953delATATATTTTTTTTTT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310482	AAAAAAAA others(8): Show AAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA19079.hp1 NA18939.hp1 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0002 a0001c0006 a0002c0002	a0001c0006t0001 a0002c0002t0002 a0001c0006t0001 a0002c0002t0002	a0001c0006t0001g0033 a0002c0002t0002g0040 a0001c0006t0001g0033 a0002c0002t0002g0040	2	212	0.0094	-15	c.166 others(34): Show c.1669-1969_1669-1955delATATATATTTTTTTT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346647	TATATATA others(8): Show TATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0217 a0001c0006t0001g0217	1	215	0.0047	-15	c.979 others(34): Show c.979-10753_979-10739delTATATATATATATAT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346649	TATATATA others(8): Show TATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18955.hp1 NA20300.hp2 HG02809.hp1 NA18955.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0001c0016 a0002c0010 a0001c0006 a0001c0016 a0002c0010	a0001c0006t0001 a0001c0016t0001 a0002c0010t0002 a0001c0006t0001 a0001c0016t0001 a0002c0010t0002	a0001c0006t0001g0151 a0001c0016t0001g0047 a0002c0010t0002g0057 a0001c0006t0001g0151 a0001c0016t0001g0047 a0002c0010t0002g0057	3	213	0.0141	-15	c.979 others(34): Show c.979-10755_979-10741delTATATATATATATAT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346651	TATATATA others(8): Show TATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0031 a0001c0018t0001g0031	1	215	0.0047	-15	c.979 others(34): Show c.979-10757_979-10743delTATATATATATATAT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13346652	ATATATAT others(8): Show ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01975.hp2 HG02109.hp1 others(2): Show HG00438.hp1 HG01975.hp2 HG02109.hp1 HG03688.hp1 NA19084.hp2	a0001 a0003 a0001 a0003	a0001c0034 a0001c0049 a0003c0054 others(2): Show a0001c0034 a0001c0049 a0003c0054 a0003c0055 a0003c0105	a0001c0034t0001 a0001c0049t0001 a0003c0054t0004 others(2): Show a0001c0034t0001 a0001c0049t0001 a0003c0054t0004 a0003c0055t0019 a0003c0105t0006	a0001c0034t0001g0052 a0001c0049t0001g0013 a0003c0054t0004g0053 others(2): Show a0001c0034t0001g0052 a0001c0049t0001g0013 a0003c0054t0004g0053 a0003c0055t0019g0071 a0003c0105t0006g0143	5	208	0.0240	-15	c.979 others(34): Show c.979-10758_979-10744delATATATATATATATA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13457252	CAAAACAA others(8): Show CAAAACAACAACAACA	C C	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0002 a0003c0015t0002	a0003c0015t0002g0119 a0003c0015t0002g0119	1	216	0.0046	-15	c.294 others(32): Show c.294-2055_294-2041delTGTTGTTGTTGTTTT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497518	AAAAATAT others(8): Show AAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01496.hp2 HG01169.hp2 HG01496.hp2	a0002 a0002	a0002c0003 a0002c0010 a0002c0003 a0002c0010	a0002c0003t0002 a0002c0010t0002 a0002c0003t0002 a0002c0010t0002	a0002c0003t0002g0086 a0002c0010t0002g0066 a0002c0003t0002g0086 a0002c0010t0002g0066	2	205	0.0098	-15	c.293 others(32): Show c.293+8399_293+8413delATATATATATATTTT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497520	AAATATAT others(8): Show AAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18948.hp1 HG02109.hp1 NA18948.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0105 a0002c0003 a0003c0105	a0002c0003t0002 a0003c0105t0006 a0002c0003t0002 a0003c0105t0006	a0002c0003t0002g0167 a0003c0105t0006g0143 a0002c0003t0002g0167 a0003c0105t0006g0143	2	194	0.0103	-15	c.293 others(32): Show c.293+8397_293+8411delATATATATATATATT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497522	ATATATAT others(8): Show ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0002 a0003c0013t0002	a0003c0013t0002g0041 a0003c0013t0002g0041	1	186	0.0054	-15	c.293 others(32): Show c.293+8395_293+8409delATATATATATATATA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46						chr19	TogoVar
CACNA1B_chr9_137872782_138129619	138023718	TGGAGAAG others(8): Show TGGAGAAGGAGACCAC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00280.hp2 HG00438.hp1 HG00438.hp2 others(127): Show HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01515.hp2 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02895.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp2 HG03834.hp2 HG04184.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp2 NA18971.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp1	a0001 a0006 a0007 others(3): Show a0001 a0006 a0007 a0010 a0015 a0016	a0001c0002 a0001c0003 a0001c0005 others(25): Show a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0009 a0001c0012 a0001c0013 a0001c0015 a0001c0017 a0001c0018 a0001c0019 a0001c0022 a0001c0032 a0001c0039 a0001c0042 a0001c0043 a0001c0044 a0001c0045 a0001c0046 a0001c0047 a0001c0048 a0001c0049 a0001c0051 a0006c0016 a0007c0021 a0010c0027 a0015c0031 a0016c0030	a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 others(56): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0002t0011 a0001c0002t0013 a0001c0002t0021 a0001c0002t0030 a0001c0002t0033 a0001c0002t0037 a0001c0003t0005 a0001c0003t0006 a0001c0003t0007 a0001c0003t0010 a0001c0003t0034 a0001c0003t0043 a0001c0003t0044 a0001c0003t0045 a0001c0005t0004 a0001c0007t0001 a0001c0007t0003 a0001c0009t0003 a0001c0012t0001 a0001c0012t0002 a0001c0012t0004 a0001c0013t0008 a0001c0013t0009 a0001c0013t0014 a0001c0013t0027 a0001c0015t0002 a0001c0015t0009 a0001c0017t0002 a0001c0017t0006 a0001c0017t0016 a0001c0018t0003 a0001c0018t0009 a0001c0018t0018 a0001c0019t0017 a0001c0019t0025 a0001c0022t0002 a0001c0022t0020 a0001c0032t0001 a0001c0039t0001 a0001c0042t0005 a0001c0043t0007 a0001c0044t0016 a0001c0045t0006 a0001c0046t0006 a0001c0047t0002 a0001c0048t0040 a0001c0049t0007 a0001c0051t0028 a0006c0016t0007 a0007c0021t0010 a0007c0021t0019 a0010c0027t0024 a0015c0031t0002 a0016c0030t0003	a0001c0002t0001g0032 a0001c0002t0001g0036 a0001c0002t0001g0056 others(127): Show a0001c0002t0001g0032 a0001c0002t0001g0036 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0073 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0123 a0001c0002t0001g0173 a0001c0002t0001g0205 a0001c0002t0001g0212 a0001c0002t0001g0238 a0001c0002t0002g0044 a0001c0002t0004g0067 a0001c0002t0004g0070 a0001c0002t0004g0071 a0001c0002t0005g0023 a0001c0002t0008g0025 a0001c0002t0008g0052 a0001c0002t0008g0065 a0001c0002t0008g0241 a0001c0002t0011g0051 a0001c0002t0013g0012 a0001c0002t0013g0128 a0001c0002t0021g0075 a0001c0002t0030g0120 a0001c0002t0033g0024 a0001c0002t0037g0242 a0001c0003t0005g0006 a0001c0003t0005g0015 a0001c0003t0005g0021 a0001c0003t0005g0109 a0001c0003t0005g0129 a0001c0003t0006g0110 a0001c0003t0006g0136 a0001c0003t0007g0107 a0001c0003t0007g0108 a0001c0003t0007g0114 a0001c0003t0007g0118 a0001c0003t0010g0130 a0001c0003t0010g0131 a0001c0003t0010g0133 a0001c0003t0010g0135 a0001c0003t0034g0112 a0001c0003t0043g0127 a0001c0003t0044g0009 a0001c0003t0045g0008 a0001c0005t0004g0007 a0001c0005t0004g0027 a0001c0005t0004g0082 a0001c0005t0004g0083 a0001c0005t0004g0086 a0001c0005t0004g0088 a0001c0005t0004g0089 a0001c0005t0004g0090 a0001c0005t0004g0092 a0001c0005t0004g0093 a0001c0005t0004g0094 a0001c0005t0004g0095 a0001c0005t0004g0098 a0001c0005t0004g0137 a0001c0005t0004g0182 a0001c0007t0001g0031 a0001c0007t0003g0026 a0001c0007t0003g0034 a0001c0007t0003g0035 a0001c0007t0003g0039 a0001c0007t0003g0041 a0001c0007t0003g0042 a0001c0007t0003g0043 a0001c0007t0003g0046 a0001c0007t0003g0055 a0001c0007t0003g0074 a0001c0007t0003g0225 a0001c0009t0003g0022 a0001c0009t0003g0084 a0001c0009t0003g0085 a0001c0009t0003g0087 a0001c0009t0003g0091 a0001c0009t0003g0096 a0001c0012t0001g0028 a0001c0012t0001g0029 a0001c0012t0001g0050 a0001c0012t0002g0049 a0001c0012t0004g0038 a0001c0013t0008g0066 a0001c0013t0009g0099 a0001c0013t0009g0196 a0001c0013t0014g0158 a0001c0013t0027g0240 a0001c0015t0002g0102 a0001c0015t0009g0080 a0001c0015t0009g0081 a0001c0017t0002g0189 a0001c0017t0006g0122 a0001c0017t0016g0119 a0001c0018t0003g0048 a0001c0018t0009g0037 a0001c0018t0018g0030 a0001c0019t0017g0124 a0001c0019t0017g0125 a0001c0019t0025g0126 a0001c0022t0002g0001 a0001c0022t0020g0002 a0001c0032t0001g0072 a0001c0039t0001g0180 a0001c0042t0005g0239 a0001c0043t0007g0117 a0001c0044t0016g0106 a0001c0045t0006g0116 a0001c0046t0006g0101 a0001c0047t0002g0100 a0001c0048t0040g0134 a0001c0049t0007g0111 a0001c0051t0028g0105 a0006c0016t0007g0053 a0006c0016t0007g0062 a0006c0016t0007g0198 a0007c0021t0010g0004 a0007c0021t0019g0003 a0007c0021t0019g0005 a0010c0027t0024g0149 a0015c0031t0002g0113 a0016c0030t0003g0097	130	246	0.5285	-15	c.298 others(24): Show c.2986_3000delACCACGGAGAAGGAG	p.Thr others(14): Show p.Thr996_Glu1000del	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	19/47	3138/9792	2986/7020	996/2339		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138087713	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02080.hp1 HG02056.hp1 HG02080.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0001 a0002c0004t0001 a0001c0002t0001 a0002c0004t0001	a0001c0002t0001g0173 a0002c0004t0001g0174 a0001c0002t0001g0173 a0002c0004t0001g0174	2	76	0.0263	-15	c.509 others(34): Show c.5095-8759_5095-8745delAAAAAAAAAAAAAAA		CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	36/46					INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138088959	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG04184.hp1 HG00639.hp2 HG04184.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0033 a0002c0001t0001g0177 a0002c0001t0001g0033 a0002c0001t0001g0177	2	7	0.2857	-15	c.509 others(34): Show c.5095-7504_5095-7490delAAAAAAAAAAAAAAA		CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	36/46					INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138107251	TTTATTTA others(8): Show TTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19060.hp2 NA19079.hp2 NA19056.hp2 NA19060.hp2 NA19079.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0017 a0001c0019t0025 a0001c0019t0017 a0001c0019t0025	a0001c0019t0017g0124 a0001c0019t0017g0125 a0001c0019t0025g0126 a0001c0019t0017g0124 a0001c0019t0017g0125 a0001c0019t0025g0126	3	246	0.0122	-15	c.542 others(34): Show c.5428+1446_5428+1460delTATTTATTTATTTAT		CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	39/46					INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNA1C_chr12_2047987_2702950	2189092	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0041 a0001c0038t0041	a0001c0038t0041g0047 a0001c0038t0041g0047	1	40	0.0250	-15	c.477 others(34): Show c.477+68674_477+68688delAAAAAAAAAAAAAAA		CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46					INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2400964	TTTCTCCC others(8): Show TTTCTCCCAAGTCCCC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03139.hp1 HG03516.hp1 others(2): Show HG02723.hp2 HG03139.hp1 HG03516.hp1 HG03540.hp2 NA18906.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0011 a0001c0025 a0001c0026 others(2): Show a0001c0011 a0001c0025 a0001c0026 a0002c0013 a0004c0039	a0001c0011t0014 a0001c0025t0007 a0001c0026t0003 others(2): Show a0001c0011t0014 a0001c0025t0007 a0001c0026t0003 a0002c0013t0035 a0004c0039t0009	a0001c0011t0014g0007 a0001c0025t0007g0014 a0001c0026t0003g0071 others(2): Show a0001c0011t0014g0007 a0001c0025t0007g0014 a0001c0026t0003g0071 a0002c0013t0035g0019 a0004c0039t0009g0040	5	104	0.0481	-15	c.478 others(34): Show c.478-47989_478-47975delAAGTCCCCTTCTCCC		CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	3/46					INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2450553	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0009 a0001c0003t0001g0009	1	12	0.0833	-15	c.617 others(32): Show c.617+1449_617+1463delAAAAAAAAAAAAAAA		CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	4/46					INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1D_chr3_53489611_53818733	53520890	CTTTCTTT others(8): Show CTTTCTTTTCTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02559.hp2 HG02683.hp1 others(1): Show HG02027.hp1 HG02559.hp2 HG02683.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0033 a0001c0001t0044 a0001c0002t0009 others(1): Show a0001c0001t0033 a0001c0001t0044 a0001c0002t0009 a0001c0012t0027	a0001c0001t0033g0018 a0001c0001t0044g0063 a0001c0002t0009g0210 others(1): Show a0001c0001t0033g0018 a0001c0001t0044g0063 a0001c0002t0009g0210 a0001c0012t0027g0193	4	180	0.0222	-15	c.483 others(34): Show c.483+19184_483+19198delCTTTTCTTTTCTTTT		CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	3/48					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1D_chr3_53489611_53818733	53679270	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01884.hp1 HG03041.hp1 others(1): Show HG01070.hp1 HG01884.hp1 HG03041.hp1 NA18982.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0009 a0001c0002t0030 a0001c0003t0023 a0001c0002t0009 a0001c0002t0030 a0001c0003t0023	a0001c0002t0009g0107 a0001c0002t0009g0210 a0001c0002t0030g0196 others(1): Show a0001c0002t0009g0107 a0001c0002t0009g0210 a0001c0002t0030g0196 a0001c0003t0023g0046	4	37	0.1081	-15	c.122 others(34): Show c.1220+5477_1220+5491delAAAAAAAAAAAAAAA		CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	8/48					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1H_chr16_1148106_1226768	1157968	GCCTTGCC others(8): Show GCCTTGCCCGTGGCGC	G G	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA19081.hp2 HG02083.hp1 NA19081.hp2	a0001 a0021 a0001 a0021	a0001c0001 a0021c0037 a0001c0001 a0021c0037	a0001c0001t0001 a0021c0037t0004 a0001c0001t0001 a0021c0037t0004	a0001c0001t0001g0230 a0021c0037t0004g0280 a0001c0001t0001g0230 a0021c0037t0004g0280	2	334	0.0060	-15	c.299 others(32): Show c.299+3946_299+3960delGCCCTTGCCCGTGGC		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34					INFO_REALIGN_3_PRIME	chr16	TogoVar

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