Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CARMIL1_chr6_25274374_25625530	25477852	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0009 a0009	a0009c0020 a0009c0020	a0009c0020t0015 a0009c0020t0015	a0009c0020t0015g0160 a0009c0020t0015g0160	1	186	0.0054	-12	c.875 others(29): Show c.875-4395_875-4384delTTTTTTTTTTTT		CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	11/36					INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25490698	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00673.hp2 HG01175.hp1 others(3): Show HG00140.hp1 HG00673.hp2 HG01175.hp1 HG02148.hp2 NA18979.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0003c0010	a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 a0001c0002t0005 a0001c0006t0004 a0003c0010t0003	a0001c0001t0001g0051 a0001c0001t0003g0064 a0001c0002t0003g0060 others(3): Show a0001c0001t0001g0051 a0001c0001t0003g0064 a0001c0002t0003g0060 a0001c0002t0005g0154 a0001c0006t0004g0062 a0003c0010t0003g0104	6	186	0.0323	-12	c.106 others(29): Show c.1066-990_1066-979delTAAATAAATAAA		CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	13/36					INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25490742	TAAATAAA others(5): Show TAAATAAATAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00438.hp1 others(45): Show HG00140.hp2 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG01081.hp2 HG01106.hp2 HG01167.hp1 HG01175.hp2 HG01243.hp1 HG02083.hp2 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02895.hp2 HG02896.hp1 HG03130.hp1 HG03209.hp1 HG03239.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03704.hp2 HG06807.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18950.hp2 NA18956.hp1 NA18993.hp1 NA18998.hp2 NA19063.hp1 NA19063.hp2 NA19072.hp1 NA19072.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0012 a0001c0015 a0001c0018 a0001c0022 a0001c0032 a0001c0037 a0002c0005 a0002c0007 a0002c0013 a0002c0014 a0002c0028 a0003c0010 a0003c0017 a0003c0023 a0003c0025 a0007c0026	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(31): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0002t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0008 a0001c0004t0002 a0001c0006t0002 a0001c0006t0003 a0001c0012t0005 a0001c0012t0006 a0001c0015t0004 a0001c0015t0009 a0001c0018t0001 a0001c0022t0002 a0001c0032t0011 a0001c0037t0002 a0002c0005t0003 a0002c0005t0007 a0002c0005t0024 a0002c0007t0020 a0002c0013t0013 a0002c0013t0016 a0002c0014t0003 a0002c0028t0003 a0003c0010t0003 a0003c0017t0007 a0003c0023t0002 a0003c0025t0002 a0007c0026t0002	a0001c0001t0001g0020 a0001c0001t0001g0056 a0001c0001t0005g0136 others(45): Show a0001c0001t0001g0020 a0001c0001t0001g0056 a0001c0001t0005g0136 a0001c0001t0007g0143 a0001c0001t0010g0140 a0001c0001t0012g0179 a0001c0002t0001g0016 a0001c0002t0001g0111 a0001c0003t0002g0002 a0001c0003t0002g0052 a0001c0003t0002g0082 a0001c0003t0003g0053 a0001c0003t0004g0022 a0001c0003t0008g0127 a0001c0004t0002g0015 a0001c0004t0002g0079 a0001c0006t0002g0087 a0001c0006t0002g0110 a0001c0006t0003g0069 a0001c0012t0005g0156 a0001c0012t0006g0118 a0001c0012t0006g0119 a0001c0012t0006g0120 a0001c0015t0004g0098 a0001c0015t0009g0145 a0001c0018t0001g0075 a0001c0018t0001g0094 a0001c0022t0002g0108 a0001c0032t0011g0097 a0001c0037t0002g0083 a0002c0005t0003g0011 a0002c0005t0003g0028 a0002c0005t0003g0045 a0002c0005t0007g0172 a0002c0005t0007g0173 a0002c0005t0024g0162 a0002c0007t0020g0181 a0002c0013t0013g0186 a0002c0013t0016g0169 a0002c0014t0003g0085 a0002c0014t0003g0086 a0002c0028t0003g0038 a0003c0010t0003g0112 a0003c0010t0003g0132 a0003c0017t0007g0153 a0003c0023t0002g0072 a0003c0025t0002g0063 a0007c0026t0002g0070	48	186	0.2581	-12	c.106 others(29): Show c.1066-986_1066-975delTAAATAAAAAAA		CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	13/36					INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25495538	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03130.hp2 NA20805.hp2 HG02145.hp1 HG03130.hp2 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0024 a0001c0004 a0003c0024	a0001c0004t0012 a0001c0004t0018 a0003c0024t0008 a0001c0004t0012 a0001c0004t0018 a0003c0024t0008	a0001c0004t0012g0177 a0001c0004t0018g0093 a0003c0024t0008g0019 a0001c0004t0012g0177 a0001c0004t0018g0093 a0003c0024t0008g0019	3	186	0.0161	-12	c.132 others(29): Show c.1325+350_1325+361delGTGTGTGTGTGT		CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	16/36					INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25526150	CAAATAAA others(5): Show CAAATAAATAAAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03225.hp2 HG03486.hp1 HG02109.hp2 HG03225.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0033 a0001c0001 a0001c0033	a0001c0001t0015 a0001c0033t0001 a0001c0001t0015 a0001c0033t0001	a0001c0001t0015g0176 a0001c0001t0015g0184 a0001c0033t0001g0124 a0001c0001t0015g0176 a0001c0001t0015g0184 a0001c0033t0001g0124	3	186	0.0161	-12	c.196 others(31): Show c.1969-2610_1969-2599delATAAATAAATAA		CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	23/36					INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25544606	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	186	0.0054	-12	c.232 others(31): Show c.2328+4557_2328+4568delACACACACACAC		CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	26/36					INFO_REALIGN_3_PRIME	chr6	TogoVar
CARMIL3_chr14_24047009_24074729	24052126	TGCAGCAG others(5): Show TGCAGCAGCCTCA	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0001 a0002c0004t0006g0001	1	414	0.0024	-12	c.-19 others(18): Show c.-19_-8delCTCAGCAGCAGC		CARMIL3	ENSG00000186648.15	transcript	ENST00000342740.6	protein_coding	1/40				8	INFO_REALIGN_3_PRIME	chr14	TogoVar
CARNMT1_chr9_74975790_75033293	75005827	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA18522.hp1 NA18906.hp1 HG03831.hp1 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0011 a0001c0001t0006 a0001c0001t0011	a0001c0001t0006g0274 a0001c0001t0011g0328 a0001c0001t0011g0329 a0001c0001t0006g0274 a0001c0001t0011g0328 a0001c0001t0011g0329	3	366	0.0082	-12	c.591 others(29): Show c.591-5969_591-5958delGTGTGTGTGTGT		CARNMT1	ENSG00000156017.13	transcript	ENST00000376834.8	protein_coding	3/7						chr9	TogoVar
CARNS1_chr11_67410678_67430604	67422171	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0079 a0001c0003t0024g0079	1	346	0.0029	-12	c.162 others(29): Show c.1626+971_1626+982delTTTTTTTTTTTT		CARNS1	ENSG00000172508.11	transcript	ENST00000687366.1	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr11	TogoVar
CARNS1_chr11_67410678_67430604	67424861	CCACACAC others(5): Show CCACACACACACA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00673.hp2 NA18939.hp2 NA18980.hp1 HG00673.hp2 NA18939.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0001 a0001c0001t0017g0002 a0001c0001t0017g0001 a0001c0001t0017g0002	3	346	0.0087	-12	c.28 others(21): Show c.280_*291delACACACACACAC		CARNS1	ENSG00000172508.11	transcript	ENST00000687366.1	protein_coding	10/10				280	INFO_REALIGN_3_PRIME	chr11	TogoVar
CARNS1_chr11_67410678_67430604	67427073	GTTTTTTT others(5): Show GTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0014 a0014	a0014c0030 a0014c0030	a0014c0030t0001 a0014c0030t0001	a0014c0030t0001g0001 a0014c0030t0001g0001	1	346	0.0029	-12	c.24 others(23): Show c.2473_*2484delTTTTTTTTTTTT		CARNS1	ENSG00000172508.11	transcript	ENST00000687366.1	protein_coding					1470		chr11	TogoVar
CARS1_chr11_2995929_3062423	3031996	TTCCCTCC others(5): Show TTCCCTCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA18945.hp1 NA19007.hp1 HG01433.hp1 NA18945.hp1 NA19007.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0012 a0001c0001 a0010c0012	a0001c0001t0001 a0010c0012t0001 a0001c0001t0001 a0010c0012t0001	a0001c0001t0001g0259 a0001c0001t0001g0288 a0010c0012t0001g0269 a0001c0001t0001g0259 a0001c0001t0001g0288 a0010c0012t0001g0269	3	321	0.0094	-12	c.802 others(29): Show c.802-2565_802-2554delGGGAGGGAGGGA		CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	7/22						chr11	TogoVar
CARS1_chr11_2995929_3062423	3032052	CTCCCTCC others(5): Show CTCCCTCCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp2 HG01070.hp2 others(12): Show HG00140.hp2 HG00544.hp2 HG01070.hp2 HG01255.hp2 HG01346.hp2 HG01358.hp2 HG01993.hp1 HG02056.hp2 HG02165.hp2 HG02630.hp2 HG02698.hp2 HG02818.hp2 HG03579.hp2 NA18983.hp2 NA19065.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0010 a0011c0016 a0001c0001 a0001c0010 a0011c0016	a0001c0001t0001 a0001c0010t0001 a0011c0016t0001 a0001c0001t0001 a0001c0010t0001 a0011c0016t0001	a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0041 others(12): Show a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0241 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0010t0001g0061 a0011c0016t0001g0045	15	321	0.0467	-12	c.802 others(29): Show c.802-2621_802-2610delAGGAGGGAGGGA		CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	7/22						chr11	TogoVar
CARS1_chr11_2995929_3062423	3032056	CTCCCTCC others(5): Show CTCCCTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01516.hp1 HG02572.hp2 others(1): Show HG00099.hp1 HG01516.hp1 HG02572.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0092 a0001c0001t0001g0232 others(1): Show a0001c0001t0001g0072 a0001c0001t0001g0092 a0001c0001t0001g0232 a0001c0001t0001g0250	4	321	0.0125	-12	c.802 others(29): Show c.802-2625_802-2614delAGGAAGGAGGGA		CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	7/22						chr11	TogoVar
CARS1_chr11_2995929_3062423	3032060	CTCCTTCC others(5): Show CTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	321	0.0031	-12	c.802 others(29): Show c.802-2629_802-2618delAGGAAGGAAGGA		CARS1	ENSG00000110619.18	transcript	ENST00000380525.9	protein_coding	7/22						chr11	TogoVar
CARTPT_chr5_71714275_71726045	71725249	CTTTTTTT others(5): Show CTTTTTTTTTTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0001	1	474	0.0021	-12	c.46 others(23): Show c.4635_*4646delTTTTTTTTTTGT		CARTPT	ENSG00000164326.5	transcript	ENST00000296777.5	protein_coding					4205		chr5	TogoVar
CASC3_chr17_40135537_40177171	40140373	AACACACA others(5): Show AACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG02004.hp2 HG02735.hp2 others(1): Show HG00733.hp2 HG02004.hp2 HG02735.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0093 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0093 a0001c0001t0001g0196	4	266	0.0150	-12	c.-17 others(21): Show c.-175_-164delACACACACACAC		CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding					163		chr17	TogoVar
CASC3_chr17_40135537_40177171	40157359	AAATAAAT others(5): Show AAATAAATAAATT	A A	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	266	0.0038	-12	c.298 others(29): Show c.298-4390_298-4379delAAATAAATTAAT		CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
CASC3_chr17_40135537_40177171	40169742	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	266	0.0038	-12	c.41 others(27): Show c.41+100_*41+111delTTTTTTTTTTTT		CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding	13/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
CASD1_chr7_94504809_94562019	94541537	GTTTTTTT others(5): Show GTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18992.hp1 NA18986.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	2	398	0.0050	-12	c.135 others(31): Show c.1356+2500_1356+2511delTTTTTTTTTTTT		CASD1	ENSG00000127995.17	transcript	ENST00000297273.9	protein_coding	10/17					INFO_REALIGN_3_PRIME	chr7	TogoVar
CASKIN1_chr16_2172180_2201605	2179036	CGCGGCGG others(5): Show CGCGGCGGCGGCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02015.hp2 NA19068.hp2 HG02015.hp2 NA19068.hp2	a0012 a0012	a0012c0020 a0012c0020	a0012c0020t0001 a0012c0020t0008 a0012c0020t0001 a0012c0020t0008	a0012c0020t0001g0154 a0012c0020t0008g0212 a0012c0020t0001g0154 a0012c0020t0008g0212	2	350	0.0057	-12	c.405 others(21): Show c.4053_4064delCGCCGCCGCCGC	p.Ala others(15): Show p.Ala1352_Ala1355del	CASKIN1	ENSG00000167971.16	transcript	ENST00000343516.8	protein_coding	19/20	4237/5839	4053/4296	1351/1431			chr16	TogoVar
CASKIN1_chr16_2172180_2201605	2196512	GGCCGCCT others(5): Show GGCCGCCTCCCCC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01261.hp2 HG01884.hp2 HG02055.hp1 others(13): Show HG01261.hp2 HG01884.hp2 HG02055.hp1 HG02083.hp2 HG02717.hp2 HG02809.hp2 HG02897.hp2 HG02922.hp1 HG03098.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp2 NA18906.hp1 NA18984.hp2 NA19010.hp1 NA19087.hp2	a0001 a0005 a0024 a0001 a0005 a0024	a0001c0001 a0001c0014 a0005c0011 others(1): Show a0001c0001 a0001c0014 a0005c0011 a0024c0037	a0001c0001t0002 a0001c0001t0010 a0001c0001t0012 others(3): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0012 a0001c0014t0011 a0005c0011t0013 a0024c0037t0002	a0001c0001t0002g0006 a0001c0001t0002g0021 a0001c0001t0002g0041 others(8): Show a0001c0001t0002g0006 a0001c0001t0002g0021 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0010g0040 a0001c0001t0012g0048 a0001c0014t0011g0046 a0005c0011t0013g0044 a0024c0037t0002g0042	16	350	0.0457	-12	c.-92 others(19): Show c.-92_-81delGGGGGAGGCGGC		CASKIN1	ENSG00000167971.16	transcript	ENST00000343516.8	protein_coding	1/20				81		chr16	TogoVar
CASK_chrX_41509934_41928554	41510388	CATATATA others(5): Show CATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	164	0.0061	-12	c.10 others(25): Show c.10020_*10031delATATATATATAT		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding					4545		chrX	TogoVar
CASK_chrX_41509934_41928554	41537818	TTTATTAT others(5): Show TTTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02109.hp2 others(6): Show HG01167.hp1 HG01169.hp1 HG02109.hp2 HG02145.hp1 HG02622.hp1 HG02896.hp2 HG02897.hp1 HG03471.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0006 a0001c0001t0007 a0001c0001t0025 others(2): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0025 a0001c0001t0026 a0001c0006t0028	a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0006g0039 others(6): Show a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0006g0039 a0001c0001t0007g0004 a0001c0001t0007g0005 a0001c0001t0007g0006 a0001c0001t0025g0019 a0001c0001t0026g0008 a0001c0006t0028g0018	9	164	0.0549	-12	c.215 others(31): Show c.2156-2857_2156-2846delTAATAATAATAA		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	22/26						chrX	TogoVar
CASK_chrX_41509934_41928554	41640977	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0008 a0001c0001t0026g0008	1	164	0.0061	-12	c.832 others(29): Show c.832-4328_832-4317delAAAAAAAAAAAA		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	8/26						chrX	TogoVar
CASK_chrX_41509934_41928554	41749376	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG04115.hp1 HG02622.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0026 a0001c0001t0001 a0001c0001t0026	a0001c0001t0001g0129 a0001c0001t0026g0008 a0001c0001t0001g0129 a0001c0001t0026g0008	2	164	0.0122	-12	c.279 others(29): Show c.279-3787_279-3776delAAAAAAAAAAAA		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	3/26						chrX	TogoVar
CASK_chrX_41509934_41928554	41770287	TCTATCTA others(5): Show TCTATCTATCTAC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03579.hp1 HG03471.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0025 a0001c0006t0028 a0001c0001t0025 a0001c0006t0028	a0001c0001t0025g0019 a0001c0006t0028g0018 a0001c0001t0025g0019 a0001c0006t0028g0018	2	164	0.0122	-12	c.278 others(31): Show c.278+16879_278+16890delGTAGATAGATAG		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	3/26						chrX	TogoVar
CASK_chrX_41509934_41928554	41770309	TACCTATC others(5): Show TACCTATCCATCC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	164	0.0061	-12	c.278 others(31): Show c.278+16857_278+16868delGGATGGATAGGT		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	3/26						chrX	TogoVar
CASK_chrX_41509934_41928554	41829696	GATATATA others(5): Show GATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02109.hp1 HG02300.hp1 others(3): Show HG01256.hp1 HG02109.hp1 HG02300.hp1 HG02698.hp1 NA18612.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0026 a0001c0001t0001g0056 a0001c0001t0001g0086 others(3): Show a0001c0001t0001g0026 a0001c0001t0001g0056 a0001c0001t0001g0086 a0001c0001t0001g0127 a0001c0001t0003g0068 a0001c0001t0003g0130	6	164	0.0366	-12	c.172 others(31): Show c.172+23407_172+23418delATATATATATAT		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	2/26						chrX	TogoVar
CASK_chrX_41509934_41928554	41869812	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	164	0.0061	-12	c.60- others(29): Show c.60-16597_60-16586delTTTTTTTTTTTT		CASK	ENSG00000147044.23	transcript	ENST00000378163.7	protein_coding	1/26						chrX	TogoVar
CASP10_chr2_201178141_201226665	201183856	CTTTATTT others(5): Show CTTTATTTATTTA	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01884.hp1 HG01884.hp2 others(5): Show HG01261.hp2 HG01884.hp1 HG01884.hp2 HG02109.hp1 HG02486.hp2 HG02723.hp2 HG03486.hp2 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0001c0014 a0004c0013 a0001c0003 a0001c0014 a0004c0013	a0001c0003t0001 a0001c0003t0007 a0001c0003t0019 others(3): Show a0001c0003t0001 a0001c0003t0007 a0001c0003t0019 a0001c0003t0022 a0001c0014t0017 a0004c0013t0016	a0001c0003t0001g0043 a0001c0003t0001g0044 a0001c0003t0007g0172 others(5): Show a0001c0003t0001g0043 a0001c0003t0001g0044 a0001c0003t0007g0172 a0001c0003t0007g0173 a0001c0003t0019g0177 a0001c0003t0022g0176 a0001c0014t0017g0175 a0004c0013t0016g0174	8	322	0.0248	-12	c.-8+ others(25): Show c.-8+570_-8+581delTTATTTATTTAT		CASP10	ENSG00000003400.16	transcript	ENST00000286186.11	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
CASP10_chr2_201178141_201226665	201194087	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	322	0.0031	-12	c.577 others(28): Show c.577+992_577+1003delGTGTGTGTGTGT		CASP10	ENSG00000003400.16	transcript	ENST00000286186.11	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
CASP14_chr19_15044480_15063293	15049695	TCTCACAC others(5): Show TCTCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0111 a0001c0001t0019g0111	1	428	0.0023	-12	c.-47 others(25): Show c.-47+52_-47+63delTCACACACACAC		CASP14	ENSG00000105141.6	transcript	ENST00000427043.4	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
CASP14_chr19_15044480_15063293	15050313	TGTGTGTG others(5): Show TGTGTGTGTGAGA	T T	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18954.hp2 NA18942.hp1 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0071 a0001c0001t0001g0072	2	428	0.0047	-12	c.-47 others(27): Show c.-47+670_-47+681delTGTGTGTGAGAG		CASP14	ENSG00000105141.6	transcript	ENST00000427043.4	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
CASP4_chr11_104937866_104973574	104951316	GCCTTTTC others(5): Show GCCTTTTCTTCTC	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG06807.hp1 NA18522.hp1 HG02965.hp1 HG06807.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0167 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0001g0167 a0001c0001t0002g0199 a0001c0001t0002g0200	3	358	0.0084	-12	c.373 others(27): Show c.373-230_373-219delGAGAAGAAAAGG		CASP4	ENSG00000196954.14	transcript	ENST00000444739.7	protein_coding	3/8						chr11	TogoVar
CASP5_chr11_104989243_105028168	105005352	ATATATGT others(5): Show ATATATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02809.hp1 HG02965.hp1 others(3): Show HG02622.hp2 HG02809.hp1 HG02965.hp1 HG03041.hp2 NA21309.hp1 NA21309.hp2	a0006 a0008 a0006 a0008	a0006c0007 a0008c0008 a0006c0007 a0008c0008	a0006c0007t0001 a0008c0008t0001 a0006c0007t0001 a0008c0008t0001	a0006c0007t0001g0043 a0006c0007t0001g0325 a0006c0007t0001g0326 others(2): Show a0006c0007t0001g0043 a0006c0007t0001g0325 a0006c0007t0001g0326 a0008c0008t0001g0080 a0008c0008t0001g0229	6	396	0.0152	-12	c.433 others(29): Show c.433+1719_433+1730delCACACACATATA		CASP5	ENSG00000137757.11	transcript	ENST00000260315.8	protein_coding	3/9						chr11	TogoVar
CASP5_chr11_104989243_105028168	105009812	CACATATA others(5): Show CACATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	396	0.0025	-12	c.8-8 others(23): Show c.8-844_8-833delATATATATATGT		CASP5	ENSG00000137757.11	transcript	ENST00000260315.8	protein_coding	1/9						chr11	TogoVar
CASP6_chr4_109683628_109708445	109698674	TGTTATGC others(5): Show TGTTATGCAGAAA	T T	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	416	0.0024	-12	c.41- others(25): Show c.41-344_41-333delTTTCTGCATAAC		CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding	1/6						chr4	TogoVar
CASP6_chr4_109683628_109708445	109705974	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0192 a0001c0001t0005g0192	1	416	0.0024	-12	c.-25 others(23): Show c.-2591_-2580delTTTTTTTTTTTT		CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding					2530		chr4	TogoVar
CASP6_chr4_109683628_109708445	109705993	AAAAAAAA others(5): Show AAAAAAAAAATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0138 a0002c0003t0003g0138	1	416	0.0024	-12	c.-26 others(23): Show c.-2610_-2599delATATTTTTTTTT		CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding					2549		chr4	TogoVar
CASP6_chr4_109683628_109708445	109705995	AAAAAAAA others(5): Show AAAAAAAATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0073	1	416	0.0024	-12	c.-26 others(23): Show c.-2612_-2601delATATATTTTTTT		CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding					2551		chr4	TogoVar
CASP6_chr4_109683628_109708445	109705997	AAAAAATA others(5): Show AAAAAATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG03453.hp1 NA19240.hp2 HG02486.hp1 HG03453.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0001 a0001c0002t0006	a0001c0002t0001g0074 a0001c0002t0006g0011 a0001c0002t0001g0074 a0001c0002t0006g0011	3	416	0.0072	-12	c.-26 others(23): Show c.-2614_-2603delATATATATTTTT		CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding					2553		chr4	TogoVar
CASP6_chr4_109683628_109708445	109705999	AAAATATA others(5): Show AAAATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0011 a0001c0002t0006g0011	1	416	0.0024	-12	c.-26 others(23): Show c.-2616_-2605delATATATATATTT		CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding					2555		chr4	TogoVar
CASP6_chr4_109683628_109708445	109706001	AATATATA others(5): Show AATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0071 a0001c0002t0006g0071	1	416	0.0024	-12	c.-26 others(23): Show c.-2618_-2607delATATATATATAT		CASP6	ENSG00000138794.10	transcript	ENST00000265164.7	protein_coding					2557		chr4	TogoVar
CASP7_chr10_113674912_113735905	113687794	CTCTTTCT others(5): Show CTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	406	0.0025	-12	c.-1+ others(27): Show c.-1+7847_-1+7858delTTTCTTTCTTTC		CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
CASP7_chr10_113674912_113735905	113687896	TTTCTTTC others(5): Show TTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	406	0.0025	-12	c.-1+ others(27): Show c.-1+7922_-1+7933delTTTCTTTCCTTC		CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
CASP7_chr10_113674912_113735905	113687916	TTTCCTTC others(5): Show TTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0019 a0001c0001t0005g0019	1	406	0.0025	-12	c.-1+ others(27): Show c.-1+7977_-1+7988delCCTTCCTTCCTT		CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
CASP7_chr10_113674912_113735905	113687955	CCTTCCTT others(5): Show CCTTCCTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01515.hp1 HG01884.hp1 others(2): Show HG01081.hp1 HG01515.hp1 HG01884.hp1 HG03195.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0263 others(2): Show a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0263 a0001c0001t0004g0261 a0001c0001t0004g0262	5	406	0.0123	-12	c.-1+ others(27): Show c.-1+7981_-1+7992delCCTTCCTTTCTT		CASP7	ENSG00000165806.21	transcript	ENST00000369318.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
CASP8_chr2_201255536_201292709	201268909	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03130.hp2 HG03471.hp2 others(5): Show HG03017.hp1 HG03130.hp2 HG03471.hp2 HG03516.hp1 HG03654.hp2 HG03710.hp2 NA18994.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0013 a0001c0002t0002	a0001c0001t0001g0021 a0001c0001t0001g0060 a0001c0001t0003g0148 others(4): Show a0001c0001t0001g0021 a0001c0001t0001g0060 a0001c0001t0003g0148 a0001c0001t0013g0268 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0108	8	386	0.0207	-12	c.305 others(29): Show c.305+2155_305+2166delTGTGTGTGTGTG		CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
CASQ2_chr1_115695021_115773714	115742768	CTGTTTGT others(5): Show CTGTTTGTTTGTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG02257.hp1 others(22): Show HG01884.hp2 HG02109.hp1 HG02257.hp1 HG02258.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03471.hp1 HG03486.hp2 NA18522.hp1 NA19030.hp1 NA19240.hp1 NA20300.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0005c0009	a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 others(7): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 a0001c0002t0001 a0001c0002t0003 a0002c0003t0007 a0002c0004t0011 a0002c0004t0018 a0005c0009t0001 a0005c0009t0013	a0001c0001t0002g0053 a0001c0001t0002g0060 a0001c0001t0002g0063 others(22): Show a0001c0001t0002g0053 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0004g0058 a0001c0001t0004g0061 a0001c0001t0004g0062 a0001c0001t0015g0054 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0003g0056 a0002c0003t0007g0012 a0002c0003t0007g0014 a0002c0003t0007g0015 a0002c0003t0007g0017 a0002c0003t0007g0018 a0002c0003t0007g0019 a0002c0004t0011g0009 a0002c0004t0011g0010 a0002c0004t0011g0013 a0002c0004t0011g0020 a0002c0004t0018g0016 a0005c0009t0001g0059 a0005c0009t0013g0032	25	364	0.0687	-12	c.320 others(29): Show c.320-1952_320-1941delAACAAACAAACA		CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	2/10						chr1	TogoVar

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