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
C5orf52_chr5_157666533_157685158	157680750	ATCTGTAT others(26): Show ATCTGTATGTCATTTCCTACATGGCATTTTTTTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	416	0.0024	-33	c.75 others(42): Show c.752_*784delTCTGTATGTCATTTCCTACATGGCATTTTTTTC		C5orf52	ENSG00000187658.7	transcript	ENST00000409999.4	protein_coding					593		chr5	TogoVar
C6orf120_chr6_169697126_169711360	169698236	AGCTTCAA others(26): Show AGCTTCAATGCCTACCTCTGCCTCAGTGTATTCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(161): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01168.hp1 HG01175.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02647.hp1 HG02735.hp1 HG02818.hp1 HG02895.hp1 HG02922.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03516.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp2 HG03942.hp1 HG04199.hp2 HG04204.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18942.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18987.hp1 NA18990.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19010.hp2 NA19012.hp2 NA19043.hp2 NA19054.hp2 NA19055.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19076.hp2 NA19078.hp2 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19089.hp1 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0027 a0001c0001t0033 a0001c0004t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(10): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0008g0000 a0001c0001t0012g0000 a0001c0001t0013g0000 a0001c0001t0014g0000 a0001c0001t0022g0000 a0001c0001t0023g0000 a0001c0001t0024g0000 a0001c0001t0027g0000 a0001c0001t0033g0000 a0001c0004t0001g0000	164	414	0.3961	-33	c.-42 others(44): Show c.-4223_-4191delGCTTCAATGCCTACCTCTGCCTCAGTGTATTCG		C6orf120	ENSG00000185127.7	transcript	ENST00000332290.4	protein_coding					3889		chr6	TogoVar
C6orf15_chr6_31106223_31117575	31111540	CCCCCAGC others(26): Show CCCCCAGCTGCCTCCTGGATACCGATTAATATTT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01074.hp2 HG01243.hp1 HG02451.hp2 others(10): Show HG01074.hp2 HG01243.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02738.hp2 HG03195.hp2 HG03209.hp2 HG03486.hp2 HG03579.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	13	436	0.0298	-33	c.786 others(40): Show c.786_818delAAATATTAATCGGTATCCAGGAGGCAGCTGGGG	p.Asn others(13): Show p.Asn263_Gly273del	C6orf15	ENSG00000204542.3	transcript	ENST00000259870.4	protein_coding	2/2	838/1156	786/978	262/325			chr6	TogoVar
C7orf50_chr7_992006_1143247	1059818	TGTAGTGG others(26): Show TGTAGTGGGGCGGGTCTGTAGTGAGGCGGGTCCG	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03195.hp1 HG02717.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0084 a0001c0001t0001g0085	2	197	0.0102	-33	c.130 others(52): Show c.130-49708_130-49676delCGGACCCGCCTCACTACAGACCCGCC CCACTAC		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4						chr7	TogoVar
C7orf50_chr7_992006_1143247	1061826	GGCAGCCA others(26): Show GGCAGCCATCTCCCCAACTCCCCAATTCTTCCAA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00733.hp1 others(21): Show HG00639.hp1 HG00639.hp2 HG00733.hp1 HG01243.hp2 HG01433.hp1 HG01433.hp2 HG01891.hp2 HG01928.hp1 HG02273.hp1 HG02630.hp1 HG02976.hp2 HG03098.hp1 HG03471.hp2 HG03491.hp2 HG03927.hp1 NA18522.hp2 NA18747.hp1 NA18955.hp1 NA19004.hp1 NA19043.hp2 NA19054.hp2 NA20129.hp1 NA20752.hp1 NA21309.hp1	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0001 a0006c0003 a0009c0006 a0001c0001 a0006c0003 a0009c0006	a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 others(6): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0006c0003t0011 a0009c0006t0005	a0001c0001t0005g0268 a0001c0001t0007g0127 a0001c0001t0007g0135 others(21): Show a0001c0001t0005g0268 a0001c0001t0007g0127 a0001c0001t0007g0135 a0001c0001t0008g0116 a0001c0001t0008g0129 a0001c0001t0009g0117 a0001c0001t0009g0120 a0001c0001t0009g0125 a0001c0001t0009g0128 a0001c0001t0009g0130 a0001c0001t0009g0136 a0001c0001t0009g0137 a0001c0001t0009g0138 a0001c0001t0009g0139 a0001c0001t0009g0140 a0001c0001t0009g0148 a0001c0001t0011g0252 a0001c0001t0011g0273 a0001c0001t0011g0274 a0001c0001t0012g0289 a0001c0001t0016g0101 a0001c0001t0016g0113 a0006c0003t0011g0270 a0009c0006t0005g0296	24	324	0.0741	-33	c.130 others(52): Show c.130-51716_130-51684delTTGGAAGAATTGGGGAGTTGGGGAGA TGGCTGC		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4						chr7	TogoVar
C7orf50_chr7_992006_1143247	1136328	ATAAATAT others(26): Show ATAAATATATAAACATATAAATATATATAAACAT	A A	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0166 a0001c0001t0008g0166	1	324	0.0031	-33	c.-2+ others(46): Show c.-2+954_-2+986delATGTTTATATATATTTATATGTTTATATATTT A		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4						chr7	TogoVar
C7orf57_chr7_48030543_48066297	48051819	CTTTCTTT others(26): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03225.hp2 HG03490.hp1 others(4): Show HG00741.hp1 HG03225.hp2 HG03490.hp1 NA18974.hp1 NA18977.hp1 NA18988.hp2 NA18998.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0199 a0002c0001t0001g0213 a0002c0001t0001g0223 others(4): Show a0001c0002t0001g0199 a0002c0001t0001g0213 a0002c0001t0001g0223 a0002c0001t0001g0224 a0002c0001t0001g0225 a0002c0001t0001g0226 a0002c0001t0001g0233	7	401	0.0175	-33	c.606 others(48): Show c.606-878_606-846delTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTT		C7orf57	ENSG00000164746.14	transcript	ENST00000348904.4	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
C8orf33_chr8_145047467_145061030	145052274	CCGCCCGC others(26): Show CCGCCCGCGCCCCGCCCCGCCCGCGCCCCGCCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0001	1	399	0.0025	-33	c.-21 others(42): Show c.-217_-185delCGCCCGCGCCCCGCCCCGCCCGCGCCCCGCCCG		C8orf33	ENSG00000182307.14	transcript	ENST00000331434.7	protein_coding					192		chr8	TogoVar
C8orf33_chr8_145047467_145061030	145052285	CCGCCCCG others(26): Show CCGCCCCGCCCGCGCCCCGCCCGCGCCCCGCCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG02896.hp2 HG02897.hp1 others(4): Show HG00738.hp1 HG02896.hp2 HG02897.hp1 HG03704.hp2 HG03927.hp2 NA18949.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0001t0001 a0001c0001t0002 a0001c0002t0003	a0001c0001t0001g0003 a0001c0001t0002g0001 a0001c0002t0003g0002 a0001c0001t0001g0003 a0001c0001t0002g0001 a0001c0002t0003g0002	7	339	0.0206	-33	c.-20 others(42): Show c.-206_-174delCGCCCCGCCCGCGCCCCGCCCGCGCCCCGCCCG		C8orf33	ENSG00000182307.14	transcript	ENST00000331434.7	protein_coding					181		chr8	TogoVar
CA10_chr17_51625320_52163714	51740045	ACCTCTGT others(26): Show ACCTCTGTTAATATTGACAACTTTATTAGGTTTG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01516.hp1 HG01123.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0126 a0001c0001t0002g0061 a0001c0001t0002g0126	2	154	0.0130	-33	c.465 others(50): Show c.465+7555_465+7587delCAAACCTAATAAAGTTGTCAATATTAAC AGAGG		CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	4/8						chr17	TogoVar
CA10_chr17_51625320_52163714	51831667	AAGCAGCA others(26): Show AAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00741.hp1 others(30): Show HG00408.hp1 HG00544.hp1 HG00741.hp1 HG00741.hp2 HG01123.hp2 HG01258.hp2 HG02055.hp1 HG02257.hp1 HG02572.hp1 HG02723.hp1 HG02886.hp2 HG02965.hp2 HG03041.hp1 HG03239.hp2 HG03471.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03704.hp2 HG03834.hp1 HG04228.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18964.hp2 NA18968.hp2 NA18974.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19078.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0002t0001	a0001c0001t0001g0025 a0001c0001t0001g0039 a0001c0001t0001g0048 others(30): Show a0001c0001t0001g0025 a0001c0001t0001g0039 a0001c0001t0001g0048 a0001c0001t0001g0093 a0001c0001t0001g0104 a0001c0001t0001g0123 a0001c0001t0001g0150 a0001c0001t0002g0024 a0001c0001t0002g0028 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0058 a0001c0001t0002g0076 a0001c0001t0002g0089 a0001c0001t0002g0092 a0001c0001t0002g0100 a0001c0001t0002g0111 a0001c0001t0002g0132 a0001c0001t0002g0136 a0001c0001t0002g0142 a0001c0001t0002g0149 a0001c0001t0003g0030 a0001c0001t0004g0072 a0001c0001t0004g0146 a0001c0001t0009g0102 a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0002t0001g0084 a0001c0002t0001g0094 a0001c0002t0001g0103 a0001c0002t0001g0120 a0001c0002t0001g0129 a0001c0002t0001g0145	33	69	0.4783	-33	c.280 others(52): Show c.280-83882_280-83850delGCTGCTGCTGCTGCTGCTGCTGCTGC TGCTGCT		CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8						chr17	TogoVar
CA1_chr8_85322608_85383113	85344235	AATATATA others(26): Show AATATATAATTATATATTATATACAGTATATAAT	A A	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	322	0.0031	-33	c.-24 others(50): Show c.-24-2609_-24-2577delATTATATACTGTATATAATATATAATTA TATAT		CA1	ENSG00000133742.14	transcript	ENST00000523022.6	protein_coding	1/7						chr8	TogoVar
CABCOCO1_chr10_61657929_61771766	61680693	CATATATA others(26): Show CATATATATGTTATACATGTATAACATATATATT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02886.hp2 HG02970.hp2 others(1): Show HG01192.hp1 HG02886.hp2 HG02970.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 others(1): Show a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273	4	359	0.0111	-33	c.165 others(48): Show c.165-441_165-409delGTTATACATGTATAACATATATATTATATA TAT		CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr10	TogoVar
CABLES2_chr20_62383634_62412285	62403940	AAATCCCA others(26): Show AAATCCCAGCACTTGGGAGGCCAAGACGGATCAC	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0160 a0001c0001t0006g0160	1	398	0.0025	-33	c.362 others(50): Show c.362+2942_362+2974delGTGATCCGTCTTGGCCTCCCAAGTGCTG GGATT		CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9						chr20	TogoVar
CACNA1A_chr19_13201442_13511479	13346644	ATATATAT others(26): Show ATATATATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	195	0.0051	-33	c.979 others(52): Show c.979-10768_979-10736delAAAAAAAAAAATATATATATATATAT ATATATA		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	6/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497516	AAAAAAAT others(26): Show AAAAAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0005 a0006c0009t0005	a0006c0009t0005g0153 a0006c0009t0005g0153	1	205	0.0049	-33	c.293 others(50): Show c.293+8383_293+8415delATATATATATATATATATATATATATAT TTTTT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46						chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13497520	AAATATAT others(26): Show AAATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02698.hp2 NA21309.hp2 HG02698.hp2 NA21309.hp2	a0004 a0019 a0004 a0019	a0004c0007 a0019c0090 a0004c0007 a0019c0090	a0004c0007t0001 a0019c0090t0002 a0004c0007t0001 a0019c0090t0002	a0004c0007t0001g0098 a0019c0090t0002g0161 a0004c0007t0001g0098 a0019c0090t0002g0161	2	194	0.0103	-33	c.293 others(50): Show c.293+8379_293+8411delATATATATATATATATATATATATATAT ATATT		CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46						chr19	TogoVar
CACNA1C_chr12_2047987_2702950	2632270	ATATGACC others(26): Show ATATGACCGCCTGTAGCTGGGGGTGTATGGGGAC	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0037 a0001c0001t0043g0037	1	104	0.0096	-33	c.382 others(52): Show c.3829-1326_3829-1294delCTATGACCGCCTGTAGCTGGGGGTGT ATGGGGA		CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	29/46					INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1H_chr16_1148106_1226768	1217379	TCTCCCCT others(26): Show TCTCCCCTTACCTGGTGGCCGTAGCCTCCTGAGG	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0032 a0032	a0032c0089 a0032c0089	a0032c0089t0005 a0032c0089t0005	a0032c0089t0005g0262 a0032c0089t0005g0262	1	336	0.0030	-33	c.532 others(50): Show c.5323+371_5323+403delTCCCCTTACCTGGTGGCCGTAGCCTCCT GAGGC		CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	31/34					INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA2D1_chr7_81941444_82448777	82099422	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0122 a0001c0002t0002g0122	1	60	0.0167	-33	c.527 others(52): Show c.527-14555_527-14523delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA		CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	6/38						chr7	TogoVar
CACNB2_chr10_18135424_18548557	18481204	ATATATAT others(26): Show ATATATATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02622.hp1 HG03540.hp1 HG02559.hp2 HG02622.hp1 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0035 a0001c0002t0002 a0002c0003t0017 a0001c0001t0035 a0001c0002t0002 a0002c0003t0017	a0001c0001t0035g0176 a0001c0002t0002g0050 a0002c0003t0017g0110 a0001c0001t0035g0176 a0001c0002t0002g0050 a0002c0003t0017g0110	3	181	0.0166	-33	c.334 others(52): Show c.334-17149_334-17117delATATATATATATATATATATATATAT TTTTTTT		CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18481204	ATATATAT others(26): Show ATATATATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02622.hp2 HG03540.hp1 HG02559.hp1 HG02622.hp2 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0005 a0001c0002t0002 a0002c0003t0018 a0001c0001t0005 a0001c0002t0002 a0002c0003t0018	a0001c0001t0005g0237 a0001c0002t0002g0210 a0002c0003t0018g0239 a0001c0001t0005g0237 a0001c0002t0002g0210 a0002c0003t0018g0239	3	273	0.0110	-33	c.172 others(52): Show c.172-17149_172-17117delATATATATATATATATATATATATAT TTTTTTT		CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
CADM2_chr3_84953989_86079429	85273720	CTGGACAT others(26): Show CTGGACATTTAGATGGAAATGTTAAATAAACTCT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02451.hp1 HG02486.hp1 others(14): Show HG01175.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03195.hp1 HG03579.hp2 HG06807.hp2 NA18906.hp2 NA19030.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0008 a0001c0001t0014 others(8): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0014 a0001c0001t0015 a0001c0001t0025 a0001c0001t0027 a0001c0001t0049 a0001c0002t0011 a0001c0003t0006 a0001c0003t0026 a0001c0003t0042	a0001c0001t0002g0023 a0001c0001t0002g0032 a0001c0001t0008g0013 others(14): Show a0001c0001t0002g0023 a0001c0001t0002g0032 a0001c0001t0008g0013 a0001c0001t0008g0014 a0001c0001t0014g0021 a0001c0001t0014g0026 a0001c0001t0015g0133 a0001c0001t0025g0132 a0001c0001t0027g0022 a0001c0001t0049g0033 a0001c0002t0011g0012 a0001c0003t0006g0025 a0001c0003t0006g0027 a0001c0003t0006g0030 a0001c0003t0006g0034 a0001c0003t0026g0015 a0001c0003t0042g0109	17	146	0.1164	-33	c.61+ others(52): Show c.61+314057_61+314089delCATTTAGATGGAAATGTTAAATAAAC TCTTGGA		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CADM2_chr3_84953989_86079429	85321116	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG04199.hp2 others(3): Show HG01516.hp1 HG01517.hp1 HG04199.hp2 NA18952.hp1 NA18989.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0047	a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0003g0104 others(3): Show a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0003g0104 a0001c0001t0009g0008 a0001c0001t0009g0037 a0001c0001t0047g0038	6	70	0.0857	-33	c.61+ others(52): Show c.61+361466_61+361498delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CALHM2_chr10_103441786_103457370	103450902	GATTCTCC others(26): Show GATTCTCCTGCCTGCAAAGATCAGGGAACTGAGA	G G	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	456	0.0022	-33	c.-15 others(50): Show c.-159+148_-159+180delTCTCAGTTCCCTGATCTTTGCAGGCAGG AGAAT		CALHM2	ENSG00000138172.11	transcript	ENST00000260743.10	protein_coding	2/3						chr10	TogoVar
CALN1_chr7_71774491_72417338	71941242	TGGGAGGC others(26): Show TGGGAGGCTGAGGCAGGGAGAATTGCTTGAACCC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01433.hp1 HG02080.hp1 others(13): Show HG01346.hp1 HG01433.hp1 HG02080.hp1 HG02257.hp2 HG02300.hp1 HG02523.hp2 HG02717.hp1 HG02723.hp2 HG03654.hp1 NA18948.hp2 NA18962.hp1 NA18975.hp2 NA18990.hp2 NA19004.hp2 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0015 a0001c0001t0016 a0001c0001t0024 a0001c0001t0028 a0001c0001t0054	a0001c0001t0001g0050 a0001c0001t0001g0072 a0001c0001t0001g0076 others(13): Show a0001c0001t0001g0050 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0110 a0001c0001t0002g0048 a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0002g0074 a0001c0001t0003g0058 a0001c0001t0005g0009 a0001c0001t0005g0014 a0001c0001t0015g0026 a0001c0001t0016g0096 a0001c0001t0024g0008 a0001c0001t0028g0015 a0001c0001t0054g0136	16	142	0.1127	-33	c.501 others(52): Show c.501+82382_501+82414delGGGTTCAAGCAATTCTCCCTGCCTCA GCCTCCC		CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	5/6						chr7	TogoVar
CALN1_chr7_71774491_72417338	72106975	GAGAAAGA others(26): Show GAGAAAGAAAGAAAGGAAAGAAAGAAAAATAGAA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0106 a0001c0001t0010g0106	1	142	0.0070	-33	c.245 others(48): Show c.245-714_245-682delTTCTATTTTTCTTTCTTTCCTTTCTTTCTT TCT		CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6						chr7	TogoVar
CALR3_chr19_16474061_16501167	16490221	CACTCAAT others(26): Show CACTCAATACTACTACAAACCTTGGATCCGATAT	C C	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	368	0.0027	-33	c.397 others(48): Show c.397+113_397+145delATATCGGATCCAAGGTTTGTAGTAGTATTG AGT		CALR3	ENSG00000269058.6	transcript	ENST00000269881.8	protein_coding	3/8						chr19	TogoVar
CALY_chr10_133319072_133341896	133324560	TTGGCTGG others(26): Show TTGGCTGGGGTGGGCGGGGCTGCAGAGCTGCTGC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp2 HG00738.hp1 HG01069.hp1 others(64): Show HG00280.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01175.hp2 HG01257.hp2 HG01891.hp2 HG01978.hp1 HG02004.hp1 HG02015.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02148.hp1 HG02280.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02965.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03239.hp1 HG03471.hp1 HG03486.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03831.hp2 HG04204.hp1 HG06807.hp1 NA18939.hp2 NA18944.hp2 NA18945.hp2 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18995.hp2 NA18998.hp1 NA19009.hp1 NA19010.hp2 NA19030.hp2 NA19065.hp1 NA19067.hp1 NA19081.hp1 NA19086.hp1 NA19091.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0019 a0002c0002t0003 a0002c0002t0015 a0002c0003t0003	a0001c0001t0002g0003 a0001c0001t0002g0013 a0001c0001t0002g0020 others(49): Show a0001c0001t0002g0003 a0001c0001t0002g0013 a0001c0001t0002g0020 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0063 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0144 a0001c0001t0002g0166 a0001c0001t0003g0022 a0001c0001t0003g0053 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0069 a0001c0001t0003g0123 a0001c0001t0003g0130 a0001c0001t0003g0136 a0001c0001t0003g0159 a0001c0001t0006g0021 a0001c0001t0006g0055 a0001c0001t0019g0132 a0002c0002t0003g0009 a0002c0002t0003g0064 a0002c0002t0003g0066 a0002c0002t0003g0075 a0002c0002t0003g0076 a0002c0002t0003g0077 a0002c0002t0003g0078 a0002c0002t0003g0079 a0002c0002t0003g0080 a0002c0002t0003g0146 a0002c0002t0003g0147 a0002c0002t0003g0168 a0002c0002t0003g0169 a0002c0002t0015g0067 a0002c0003t0003g0065 a0002c0003t0003g0068	67	242	0.2769	-33	c.10 others(44): Show c.1002_*1034delGCAGCAGCTCTGCAGCCCCGCCCACCCCAGCCA		CALY	ENSG00000130643.9	transcript	ENST00000252939.9	protein_coding	6/6				1234		chr10	TogoVar
CAMK1D_chr10_12344547_12840545	12801321	CTATCTAT others(26): Show CTATCTATCTATCTATCTATCTATCTATCTATCT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0062 a0001c0001t0026 a0001c0001t0062	a0001c0001t0026g0143 a0001c0001t0062g0144 a0001c0001t0026g0143 a0001c0001t0062g0144	2	214	0.0093	-33	c.641 others(52): Show c.641+10122_641+10154delTATCTATCTATCTATCTATCTATCTA TCTATCT		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMK2B_chr7_44212154_44330594	44227473	GGGGTATG others(26): Show GGGGTATGGGGGGCAGGGGGTGGAGGACAGAGGA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02970.hp1 HG00280.hp2 HG02970.hp1	a0001 a0001	a0001c0004 a0001c0007 a0001c0004 a0001c0007	a0001c0004t0018 a0001c0007t0004 a0001c0004t0018 a0001c0007t0004	a0001c0004t0018g0199 a0001c0007t0004g0062 a0001c0004t0018g0199 a0001c0007t0004g0062	2	233	0.0086	-33	c.146 others(50): Show c.1469-862_1469-830delTCCTCTGTCCTCCACCCCCTGCCCCCCA TACCC		CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	19/23						chr7	TogoVar
CAMSAP3_chr19_7590863_7623304	7605902	TAGCTCTT others(26): Show TAGCTCTTCCCCCCAGCCCTGGCTCCTCCCCTCA	T T	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	356	0.0028	-33	c.403 others(48): Show c.403-358_403-326delCCCAGCCCTGGCTCCTCCCCTCAAGCTCTT CCC		CAMSAP3	ENSG00000076826.10	transcript	ENST00000160298.9	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr19	TogoVar
CAMTA1_chr1_6780454_7774706	7398185	CTCTCTCT others(26): Show CTCTCTCTCTATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03579.hp1 HG03041.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0036 a0001c0001t0008g0003 a0001c0001t0002g0036 a0001c0001t0008g0003	2	54	0.0370	-33	c.439 others(52): Show c.439-69644_439-69612delTCTCTCTCTATATATATATATATATA TATATAT		CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22						chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7457030	TCCCCTCA others(26): Show TCCCCTCACCCGCCCCGCCCCCTGCGCCGCCGTG	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01496.hp2 HG01884.hp2 others(15): Show HG00558.hp2 HG01496.hp2 HG01884.hp2 HG02257.hp1 HG02280.hp2 HG02523.hp1 HG02622.hp2 HG02630.hp1 HG02723.hp1 HG02922.hp1 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03225.hp2 HG03486.hp2 HG03688.hp2 HG03704.hp1 NA18999.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0010 a0002c0004 a0005c0007 a0007c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0020 a0001c0002t0003 a0001c0002t0006 a0001c0002t0010 a0001c0003t0001 a0001c0003t0023 a0001c0005t0009 a0001c0006t0005 a0001c0010t0004 a0002c0004t0011 a0005c0007t0014 a0007c0014t0001	a0001c0001t0001g0024 a0001c0001t0002g0009 a0001c0001t0003g0048 others(15): Show a0001c0001t0001g0024 a0001c0001t0002g0009 a0001c0001t0003g0048 a0001c0001t0007g0021 a0001c0001t0008g0003 a0001c0001t0013g0054 a0001c0001t0020g0049 a0001c0002t0003g0007 a0001c0002t0006g0008 a0001c0002t0010g0010 a0001c0003t0001g0004 a0001c0003t0023g0045 a0001c0005t0009g0050 a0001c0006t0005g0057 a0001c0010t0004g0031 a0002c0004t0011g0005 a0005c0007t0014g0018 a0007c0014t0001g0041	18	58	0.3103	-33	c.439 others(52): Show c.439-10784_439-10752delGCCCCCTGCGCCGCCGTGCCCCTCAC CCGCCCC		CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	5/22					INFO_REALIGN_3_PRIME	chr1	TogoVar
CAMTA1_chr1_6780454_7774706	7548462	CTTAGGAG others(26): Show CTTAGGAGTGGAGGTGCTGGTGGAGGGTGCCCCT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00735.hp2 HG01243.hp2 others(20): Show HG00558.hp1 HG00735.hp2 HG01243.hp2 HG01496.hp2 HG01884.hp1 HG02004.hp1 HG02055.hp1 HG02132.hp1 HG02280.hp1 HG02451.hp1 HG02523.hp1 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG03041.hp1 HG03130.hp2 HG03225.hp1 HG03486.hp1 HG03579.hp2 NA18999.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0004 a0003c0008 a0004c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0025 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0003t0010 a0001c0003t0023 a0001c0005t0005 a0001c0005t0009 a0002c0004t0018 a0003c0008t0007 a0004c0012t0022	a0001c0001t0001g0013 a0001c0001t0002g0001 a0001c0001t0003g0047 others(20): Show a0001c0001t0001g0013 a0001c0001t0002g0001 a0001c0001t0003g0047 a0001c0001t0004g0026 a0001c0001t0004g0034 a0001c0001t0005g0038 a0001c0001t0007g0021 a0001c0001t0008g0003 a0001c0001t0012g0019 a0001c0001t0012g0051 a0001c0001t0013g0056 a0001c0001t0025g0052 a0001c0002t0001g0020 a0001c0002t0003g0025 a0001c0003t0001g0004 a0001c0003t0001g0012 a0001c0003t0010g0035 a0001c0003t0023g0045 a0001c0005t0005g0044 a0001c0005t0009g0050 a0002c0004t0018g0015 a0003c0008t0007g0023 a0004c0012t0022g0017	23	58	0.3966	-33	c.510 others(52): Show c.510+80567_510+80599delAGTGGAGGTGCTGGTGGAGGGTGCCC CTTTAGG		CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	6/22					INFO_REALIGN_3_PRIME	chr1	TogoVar
CAND1_chr12_67264358_67324953	67316020	TCTCTGGA others(26): Show TCTCTGGATATATTATGCTTAGTAAGTGTTTTGA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0050 a0001c0002t0050	a0001c0002t0050g0128 a0001c0002t0050g0128	1	326	0.0031	-33	c.31 others(44): Show c.3191_*3223delCTCTGGATATATTATGCTTAGTAAGTGTTTTGA		CAND1	ENSG00000111530.13	transcript	ENST00000545606.6	protein_coding	15/15				3191		chr12	TogoVar
CAPN11_chr6_44153820_44189401	44182041	CCACACAC others(26): Show CCACACACACACATACAGACACAACCACACCACA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02965.hp1 HG02970.hp2 others(1): Show HG02559.hp2 HG02965.hp1 HG02970.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0048	4	304	0.0132	-33	c.193 others(50): Show c.1938+738_1938+770delGACACAACCACACCACACACACACACAC ATACA		CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22					INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN2_chr1_223707539_223781018	223741421	GTATATAT others(26): Show GTATATATATATATAATGTGTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0003 a0004c0009t0003	a0004c0009t0003g0327 a0004c0009t0003g0327	1	272	0.0037	-33	c.308 others(50): Show c.308-2664_308-2632delATGTGTATATATATATATATATATATAT ATATA		CAPN2	ENSG00000162909.18	transcript	ENST00000295006.6	protein_coding	2/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN9_chr1_230742388_230806989	230800217	AAATAAGA others(26): Show AAATAAGAAAGAAAGAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0049 a0001c0005t0001g0050 a0001c0005t0001g0049 a0001c0005t0001g0050	2	325	0.0062	-33	c.204 others(52): Show c.2047-1350_2047-1318delTAAGAAAGAAAGAAGAAAGAAAGAAA GAAAGAA		CAPN9	ENSG00000135773.13	transcript	ENST00000271971.7	protein_coding	19/19					INFO_REALIGN_3_PRIME	chr1	TogoVar
CARD19_chr9_93091217_93118283	93095871	CGAGTAAG others(26): Show CGAGTAAGGGGCGGGGCCCGGTGGGGGGTTCCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(177): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG03041.hp1 HG03098.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18963.hp1 NA18964.hp1 NA18968.hp2 NA18970.hp2 NA18972.hp2 NA18975.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18987.hp1 NA18988.hp2 NA18990.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19056.hp2 NA19057.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19074.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0005c0008 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0004t0002 a0001c0005t0003 a0005c0008t0002 a0006c0010t0002	a0001c0001t0001g0041 a0001c0001t0001g0104 a0001c0001t0002g0001 others(84): Show a0001c0001t0001g0041 a0001c0001t0001g0104 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0003g0013 a0001c0001t0003g0046 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0091 a0001c0002t0001g0026 a0001c0002t0003g0013 a0001c0002t0003g0018 a0001c0002t0003g0019 a0001c0002t0003g0020 a0001c0002t0003g0034 a0001c0002t0003g0045 a0001c0002t0003g0048 a0001c0002t0003g0056 a0001c0002t0004g0019 a0001c0002t0004g0047 a0001c0004t0002g0040 a0001c0005t0003g0013 a0001c0005t0003g0027 a0005c0008t0002g0010 a0006c0010t0002g0054	180	356	0.5056	-33	c.-47 others(42): Show c.-474_-442delGAGTAAGGGGCGGGGCCCGGTGGGGGGTTCCTT		CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding					345		chr9	TogoVar
CARD19_chr9_93091217_93118283	93115871	GGTGGAAG others(26): Show GGTGGAAGTGGGTGAGGGAGAGGTGAGGGAAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0010 a0005c0008t0002g0010	1	356	0.0028	-33	c.27 others(44): Show c.2765_*2797delGTGGAAGTGGGTGAGGGAGAGGTGAGGGAAGGA		CARD19	ENSG00000165233.18	transcript	ENST00000375464.7	protein_coding					2589		chr9	TogoVar
CARM1_chr19_10866553_10928075	10871607	GGCGGCGG others(26): Show GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCA	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	352	0.0028	-33	c.-84 others(40): Show c.-84_-52delGGCGGCGGCGGCGGCGGCGGCAGCGGCGGCGGC		CARM1	ENSG00000142453.13	transcript	ENST00000327064.9	protein_coding	1/16				52	INFO_REALIGN_3_PRIME	chr19	TogoVar
CARMIL1_chr6_25274374_25625530	25450742	TCCTCCCT others(26): Show TCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG01074.hp2 others(40): Show HG00642.hp2 HG00738.hp2 HG01074.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01361.hp1 HG01884.hp2 HG02055.hp1 HG02083.hp1 HG02109.hp1 HG02145.hp2 HG02258.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02717.hp2 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03942.hp2 HG06807.hp2 NA18945.hp2 NA19043.hp2 NA19072.hp1 NA19240.hp1 NA20129.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0008 a0009 a0010	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0001c0031 a0002c0005 a0002c0007 a0002c0014 a0002c0034 a0005c0019 a0008c0035 a0009c0020 a0010c0021	a0001c0001t0001 a0001c0001t0019 a0001c0002t0001 others(28): Show a0001c0001t0001 a0001c0001t0019 a0001c0002t0001 a0001c0002t0005 a0001c0002t0008 a0001c0002t0010 a0001c0002t0011 a0001c0002t0012 a0001c0003t0023 a0001c0004t0002 a0001c0004t0004 a0001c0004t0009 a0001c0004t0014 a0001c0009t0002 a0001c0009t0009 a0001c0009t0011 a0001c0009t0017 a0001c0031t0004 a0002c0005t0003 a0002c0005t0007 a0002c0005t0016 a0002c0005t0024 a0002c0007t0003 a0002c0007t0020 a0002c0014t0003 a0002c0034t0011 a0005c0019t0001 a0005c0019t0005 a0008c0035t0004 a0009c0020t0015 a0010c0021t0017	a0001c0001t0001g0042 a0001c0001t0019g0047 a0001c0002t0001g0010 others(40): Show a0001c0001t0001g0042 a0001c0001t0019g0047 a0001c0002t0001g0010 a0001c0002t0005g0152 a0001c0002t0008g0056 a0001c0002t0008g0107 a0001c0002t0010g0171 a0001c0002t0011g0044 a0001c0002t0012g0174 a0001c0002t0012g0185 a0001c0003t0023g0161 a0001c0004t0002g0009 a0001c0004t0002g0089 a0001c0004t0004g0023 a0001c0004t0004g0034 a0001c0004t0004g0062 a0001c0004t0004g0064 a0001c0004t0004g0066 a0001c0004t0004g0126 a0001c0004t0009g0184 a0001c0004t0014g0156 a0001c0004t0014g0178 a0001c0009t0002g0058 a0001c0009t0009g0129 a0001c0009t0011g0046 a0001c0009t0017g0166 a0001c0031t0004g0053 a0002c0005t0003g0035 a0002c0005t0003g0054 a0002c0005t0007g0170 a0002c0005t0007g0173 a0002c0005t0016g0172 a0002c0005t0024g0162 a0002c0007t0003g0032 a0002c0007t0020g0181 a0002c0014t0003g0098 a0002c0014t0003g0103 a0002c0034t0011g0112 a0005c0019t0001g0038 a0005c0019t0005g0153 a0008c0035t0004g0028 a0009c0020t0015g0160 a0010c0021t0017g0167	43	184	0.2337	-33	c.614 others(47): Show c.614+71_614+103delTCCCTTCCTCCCTCCCTTCCTCCCTCCCCTC CC		CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36					INFO_REALIGN_3_PRIME	chr6	TogoVar
CATSPER1_chr11_66011752_66031479	66021479	GAGCCGTG others(26): Show GAGCCGTGGCCACTGACCTGAGCCTCCGCAGGAC	G G	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19003.hp2 NA19003.hp2	a0018 a0018	a0018c0025 a0018c0025	a0018c0025t0001 a0018c0025t0001	a0018c0025t0001g0134 a0018c0025t0001g0134	1	406	0.0025	-33	c.167 others(45): Show c.1675_1691+16delGTCCTGCGGAGGCTCAGGTCAGTGGCCACGGCT	p.Val others(5): Show p.Val559fs	CATSPER1	ENSG00000175294.6	transcript	ENST00000312106.6	protein_coding	4/12		1675/2343	559/780			chr11	TogoVar
CAV1_chr7_116520036_116566179	116555505	AAAGAAAG others(26): Show AAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	212	0.0047	-33	c.196 others(50): Show c.196-3439_196-3407delAGAAAGAAAGAAAGAGAGAGAGAGAGAG AGAGA		CAV1	ENSG00000105974.13	transcript	ENST00000341049.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr7	TogoVar
CAVIN4_chr9_100573079_100593389	100575686	GAGATTTT others(26): Show GAGATTTTGGAAGCTAGTCCAACTCCTAATTTAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	380	0.0026	-33	c.-24 others(44): Show c.-2457_-2425delAGATTTTGGAAGCTAGTCCAACTCCTAATTTAT		CAVIN4	ENSG00000170681.7	transcript	ENST00000307584.6	protein_coding					2392		chr9	TogoVar
CBFA2T3_chr16_88869858_88982207	88905937	CGTGGGTC others(26): Show CGTGGGTCCACCCCACAGCCACAGCAGGAGGCTG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02572.hp2 HG02886.hp2 others(1): Show HG01884.hp1 HG02572.hp2 HG02886.hp2 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0020 a0001c0021 a0001c0002 a0001c0020 a0001c0021	a0001c0002t0001 a0001c0020t0029 a0001c0021t0011 a0001c0002t0001 a0001c0020t0029 a0001c0021t0011	a0001c0002t0001g0102 a0001c0002t0001g0114 a0001c0020t0029g0115 others(1): Show a0001c0002t0001g0102 a0001c0002t0001g0114 a0001c0020t0029g0115 a0001c0021t0011g0034	4	282	0.0142	-33	c.152 others(50): Show c.152-4314_152-4282delCAGCCTCCTGCTGTGGCTGTGGGGTGGA CCCAC		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11						chr16	TogoVar
CC2D2B_chr10_95902975_96038745	95993855	GAGAGAGA others(26): Show GAGAGAGAGAGAGAGAGTGTATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp2 HG02630.hp2 others(9): Show HG02109.hp1 HG02280.hp2 HG02630.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp2 HG03471.hp1 NA18967.hp1 NA19062.hp1 NA19063.hp2 NA19079.hp1 NA19079.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0003c0003t0002 a0001c0001t0001 a0001c0001t0002 a0003c0003t0002	a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(9): Show a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0168 a0001c0001t0002g0228 a0001c0001t0002g0232 a0001c0001t0002g0238 a0001c0001t0002g0249 a0003c0003t0002g0065	12	300	0.0400	-33	c.264 others(52): Show c.2642+1170_2642+1202delGAGAGTGTATATATATATATATAGAG AGAGAGA		CC2D2B	ENSG00000188649.16	transcript	ENST00000646931.3	protein_coding	22/34					INFO_REALIGN_3_PRIME	chr10	TogoVar
CCBE1_chr18_59425939_59702423	59658343	AAAAAAAA others(26): Show AAAAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	237	0.0042	-33	c.212 others(52): Show c.212+38253_212+38285delATATATATATATATATATATATTTTT TTTTTTT		CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10						chr18	TogoVar
CCBE1_chr18_59425939_59702423	59658351	AAAAATAT others(26): Show AAAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0127 a0001c0001t0034g0127	1	233	0.0043	-33	c.212 others(52): Show c.212+38245_212+38277delATATATATATATATATATATATATAT ATATTTT		CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10						chr18	TogoVar

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