Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cds cds pos length	aa aa pos length	distance	status	chr	external
S100Z_chr5_76845014_76926650	76895765	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02486.hp1 HG02809.hp1 others(9): Show HG01167.hp2 HG02486.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02970.hp2 HG03041.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03471.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0005 a0002c0002t0015 others(1): Show a0001c0001t0005 a0002c0002t0005 a0002c0002t0015 a0002c0002t0017	a0001c0001t0005g0055 a0002c0002t0005g0007 a0002c0002t0005g0008 others(9): Show a0001c0001t0005g0055 a0002c0002t0005g0007 a0002c0002t0005g0008 a0002c0002t0005g0009 a0002c0002t0005g0173 a0002c0002t0005g0174 a0002c0002t0005g0175 a0002c0002t0005g0176 a0002c0002t0005g0178 a0002c0002t0015g0045 a0002c0002t0015g0221 a0002c0002t0017g0054	12	348	0.0345	-10	c.2+ others(27): Show c.2+17944_*2+17953delTTTTTTTTTT		S100Z	ENSG00000171643.14	transcript	ENST00000317593.9	protein_coding	4/4				INFO_REALIGN_3_PRIME	chr5	TogoVar
S100Z_chr5_76845014_76926650	76906970	GTGTGTGT others(3): Show GTGTGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01255.hp2 HG02055.hp2 HG01074.hp1 HG01255.hp2 HG02055.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0002c0002t0003 a0001c0001t0003 a0002c0002t0001 a0002c0002t0003	a0001c0001t0003g0060 a0002c0002t0001g0159 a0002c0002t0003g0144 a0001c0001t0003g0060 a0002c0002t0001g0159 a0002c0002t0003g0144	3	348	0.0086	-10	c.3- others(27): Show c.3-13745_*3-13736delGTGTGTATAT		S100Z	ENSG00000171643.14	transcript	ENST00000317593.9	protein_coding	4/4				INFO_REALIGN_3_PRIME	chr5	TogoVar
S1PR2_chr19_10216433_10236331	10223168	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00597.hp2 HG00642.hp2 HG00673.hp2 others(29): Show HG00597.hp2 HG00642.hp2 HG00673.hp2 HG01123.hp1 HG01175.hp2 HG01255.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01516.hp2 HG01517.hp2 HG01978.hp1 HG02056.hp1 HG02080.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG03239.hp2 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 NA18952.hp1 NA18981.hp2 NA18990.hp1 NA18998.hp2 NA19000.hp1 NA19067.hp2 NA19088.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0009 a0002c0005 others(1): Show a0001c0002 a0001c0009 a0002c0005 a0004c0007	a0001c0002t0006 a0001c0002t0009 a0001c0002t0025 others(7): Show a0001c0002t0006 a0001c0002t0009 a0001c0002t0025 a0001c0002t0037 a0001c0002t0038 a0001c0002t0039 a0001c0002t0040 a0001c0009t0006 a0002c0005t0006 a0004c0007t0006	a0001c0002t0006g0015 a0001c0002t0006g0025 a0001c0002t0006g0071 others(21): Show a0001c0002t0006g0015 a0001c0002t0006g0025 a0001c0002t0006g0071 a0001c0002t0006g0108 a0001c0002t0006g0115 a0001c0002t0006g0139 a0001c0002t0006g0146 a0001c0002t0006g0148 a0001c0002t0006g0151 a0001c0002t0009g0026 a0001c0002t0009g0081 a0001c0002t0009g0083 a0001c0002t0009g0086 a0001c0002t0009g0087 a0001c0002t0009g0116 a0001c0002t0009g0190 a0001c0002t0025g0039 a0001c0002t0037g0104 a0001c0002t0038g0088 a0001c0002t0039g0152 a0001c0002t0040g0061 a0001c0009t0006g0105 a0002c0005t0006g0103 a0004c0007t0006g0147	32	400	0.0800	-10	c.66 others(19): Show c.666_*675delTTTTTTTTTT		S1PR2	ENSG00000267534.4	transcript	ENST00000646641.1	protein_coding	2/2			666		chr19	TogoVar
S1PR2_chr19_10216433_10236331	10228309	TCAAAACA others(3): Show TCAAAACAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00438.hp2 others(44): Show HG00140.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01192.hp1 HG01346.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02027.hp1 HG02129.hp1 HG02148.hp1 HG02293.hp2 HG02622.hp2 HG02717.hp1 HG02976.hp1 HG03195.hp2 HG03688.hp1 HG03704.hp1 HG04115.hp2 NA18612.hp2 NA18939.hp2 NA18944.hp1 NA18954.hp2 NA18969.hp2 NA18986.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18998.hp2 NA19002.hp2 NA19056.hp1 NA19062.hp1 NA19064.hp1 NA19067.hp2 NA19070.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0009 a0001c0002t0022 others(4): Show a0001c0002t0005 a0001c0002t0009 a0001c0002t0022 a0001c0002t0034 a0001c0002t0038 a0001c0002t0053 a0001c0002t0055	a0001c0002t0005g0004 a0001c0002t0005g0007 a0001c0002t0005g0022 others(17): Show a0001c0002t0005g0004 a0001c0002t0005g0007 a0001c0002t0005g0022 a0001c0002t0005g0035 a0001c0002t0005g0052 a0001c0002t0005g0080 a0001c0002t0005g0082 a0001c0002t0005g0084 a0001c0002t0005g0085 a0001c0002t0005g0142 a0001c0002t0009g0081 a0001c0002t0009g0083 a0001c0002t0009g0086 a0001c0002t0009g0087 a0001c0002t0009g0190 a0001c0002t0022g0036 a0001c0002t0034g0090 a0001c0002t0038g0088 a0001c0002t0053g0089 a0001c0002t0055g0143	47	400	0.1175	-10	c.-43 others(27): Show c.-43+2885_-43+2894delTTTTGTTTTG		S1PR2	ENSG00000267534.4	transcript	ENST00000646641.1	protein_coding	1/1					chr19	TogoVar
S1PR2_chr19_10216433_10236331	10232354	ATGTGTGT others(3): Show ATGTGTGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG02055.hp1 others(29): Show HG01891.hp1 HG01891.hp2 HG02055.hp1 HG02109.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03195.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp2 HG06807.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0011 a0001c0002t0013 others(9): Show a0001c0002t0007 a0001c0002t0011 a0001c0002t0013 a0001c0002t0015 a0001c0002t0016 a0001c0002t0017 a0001c0002t0023 a0001c0002t0024 a0001c0002t0040 a0001c0002t0043 a0001c0002t0051 a0001c0002t0057	a0001c0002t0007g0014 a0001c0002t0007g0020 a0001c0002t0007g0033 others(18): Show a0001c0002t0007g0014 a0001c0002t0007g0020 a0001c0002t0007g0033 a0001c0002t0007g0069 a0001c0002t0007g0097 a0001c0002t0007g0145 a0001c0002t0011g0012 a0001c0002t0011g0064 a0001c0002t0013g0065 a0001c0002t0015g0093 a0001c0002t0016g0067 a0001c0002t0017g0021 a0001c0002t0017g0066 a0001c0002t0023g0068 a0001c0002t0023g0091 a0001c0002t0024g0063 a0001c0002t0024g0092 a0001c0002t0040g0061 a0001c0002t0043g0144 a0001c0002t0051g0062 a0001c0002t0057g0060	32	400	0.0800	-10	c.-12 others(21): Show c.-1203_-1194delCACACACACA		S1PR2	ENSG00000267534.4	transcript	ENST00000646641.1	protein_coding				1024		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3180465	AGTGTGTG others(3): Show AGTGTGTGTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00733.hp2 HG01109.hp2 others(6): Show HG00639.hp1 HG00733.hp2 HG01109.hp2 HG01169.hp2 HG01257.hp1 HG01258.hp2 HG03239.hp2 HG03654.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	9	418	0.0215	-10	c.51 others(19): Show c.519_*528delGTGTGTGTGT		S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding				134		chr19	TogoVar
SAA2_chr11_18240240_18253668	18252065	CTTTCTTT others(3): Show CTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02717.hp1 HG03225.hp1 others(3): Show HG02451.hp1 HG02717.hp1 HG03225.hp1 HG03471.hp1 HG03516.hp1 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0013 a0001c0001t0001g0021 a0002c0002t0001g0053 a0001c0001t0001g0013 a0001c0001t0001g0021 a0002c0002t0001g0053	6	474	0.0127	-10	c.-34 others(21): Show c.-3477_-3468delAAGAAAGAAA		SAA2	ENSG00000134339.9	transcript	ENST00000256733.9	protein_coding				3398		chr11	TogoVar
SAAL1_chr11_18075292_18111082	18077945	AAAAACAA others(3): Show AAAAACAAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp1 others(53): Show HG00099.hp2 HG00323.hp1 HG00408.hp1 HG00733.hp1 HG00733.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01192.hp2 HG01257.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01884.hp2 HG01943.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02257.hp2 HG02258.hp2 HG02293.hp1 HG02523.hp2 HG02559.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03491.hp2 HG03688.hp1 HG03688.hp2 HG04199.hp2 NA18522.hp1 NA18968.hp2 NA19009.hp1 NA19043.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp1	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0010 a0014	a0001c0001 a0001c0018 a0003c0003 others(3): Show a0001c0001 a0001c0018 a0003c0003 a0006c0006 a0010c0012 a0014c0017	a0001c0001t0001 a0001c0001t0002 a0001c0018t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0018t0001 a0003c0003t0001 a0006c0006t0001 a0010c0012t0001 a0014c0017t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0036 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0092 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0002g0104 a0001c0018t0001g0084 a0003c0003t0001g0009 a0003c0003t0001g0012 a0003c0003t0001g0037 a0003c0003t0001g0039 a0003c0003t0001g0112 a0003c0003t0001g0113 a0003c0003t0001g0117 a0003c0003t0001g0118 a0006c0006t0001g0014 a0006c0006t0001g0026 a0006c0006t0001g0062 a0006c0006t0001g0064 a0006c0006t0001g0065 a0010c0012t0001g0038 a0014c0017t0001g0076	56	284	0.1972	-10	c.24 others(21): Show c.2444_*2453delGTTTTGTTTT		SAAL1	ENSG00000166788.10	transcript	ENST00000524803.6	protein_coding				2346		chr11	TogoVar
SACM1L_chr3_45684396_45750409	45697269	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02630.hp2 HG03209.hp1 others(1): Show HG02451.hp2 HG02630.hp2 HG03209.hp1 HG03516.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0027 a0002c0001t0001g0103 a0002c0001t0001g0104 a0002c0001t0001g0027 a0002c0001t0001g0103 a0002c0001t0001g0104	4	354	0.0113	-10	c.33- others(25): Show c.33-6153_33-6144delTTTTTTTTTT		SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding	1/19				INFO_REALIGN_3_PRIME	chr3	TogoVar
SACM1L_chr3_45684396_45750409	45748591	AATATATA others(3): Show AATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0020 a0002c0001t0001g0020	1	354	0.0028	-10	c.49 others(21): Show c.4923_*4932delATATATATAT		SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding				3183		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45748611	TATATATA others(3): Show TATATATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00597.hp2 HG02135.hp1 others(8): Show HG00438.hp1 HG00597.hp2 HG02135.hp1 HG04199.hp2 NA18989.hp2 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19057.hp2 NA19078.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0007 a0001c0002t0002 a0001c0002t0007	a0001c0002t0002g0042 a0001c0002t0002g0254 a0001c0002t0002g0256 others(7): Show a0001c0002t0002g0042 a0001c0002t0002g0254 a0001c0002t0002g0256 a0001c0002t0002g0259 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0007g0255 a0001c0002t0007g0257 a0001c0002t0007g0258 a0001c0002t0007g0260	11	354	0.0311	-10	c.49 others(21): Show c.4943_*4952delATATATATAA		SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding				3203		chr3	TogoVar
SACS_chr13_23323830_23438702	23391851	AAGTGCCC others(3): Show AAGTGCCCATC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00408.hp1 others(84): Show HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00438.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01109.hp1 HG01256.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02109.hp1 HG02135.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02523.hp2 HG02630.hp1 HG02683.hp1 HG02738.hp1 HG02809.hp2 HG02895.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03491.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03831.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04228.hp1 NA18747.hp2 NA18941.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp2 NA18967.hp2 NA18970.hp2 NA18973.hp1 NA18986.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19001.hp1 NA19005.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp2 NA19064.hp1 NA19074.hp2 NA19079.hp1 NA19080.hp1 NA19088.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(16): Show a0001 a0002 a0005 a0008 a0009 a0010 a0013 a0017 a0018 a0019 a0021 a0022 a0029 a0030 a0032 a0033 a0035 a0037 a0041	a0001c0002 a0001c0003 a0001c0006 others(26): Show a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0001c0020 a0001c0023 a0001c0049 a0001c0064 a0002c0001 a0002c0024 a0005c0010 a0005c0030 a0008c0025 a0009c0017 a0010c0034 a0010c0039 a0013c0022 a0017c0060 a0018c0058 a0019c0055 a0021c0062 a0022c0038 a0029c0029 a0030c0063 a0032c0048 a0033c0040 a0035c0050 a0037c0035 a0041c0065	a0001c0002t0002 a0001c0002t0003 a0001c0002t0009 others(34): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0009 a0001c0003t0007 a0001c0006t0001 a0001c0006t0004 a0001c0006t0021 a0001c0008t0018 a0001c0020t0007 a0001c0023t0003 a0001c0023t0004 a0001c0049t0001 a0001c0064t0001 a0002c0001t0001 a0002c0001t0006 a0002c0001t0008 a0002c0001t0013 a0002c0024t0001 a0005c0010t0005 a0005c0030t0005 a0008c0025t0001 a0009c0017t0001 a0010c0034t0001 a0010c0039t0001 a0013c0022t0003 a0017c0060t0001 a0018c0058t0020 a0019c0055t0001 a0021c0062t0001 a0022c0038t0001 a0029c0029t0005 a0030c0063t0001 a0032c0048t0029 a0033c0040t0001 a0035c0050t0001 a0037c0035t0001 a0041c0065t0001	a0001c0002t0002g0324 a0001c0002t0003g0062 a0001c0002t0003g0063 others(84): Show a0001c0002t0002g0324 a0001c0002t0003g0062 a0001c0002t0003g0063 a0001c0002t0003g0085 a0001c0002t0003g0086 a0001c0002t0003g0087 a0001c0002t0003g0112 a0001c0002t0003g0114 a0001c0002t0003g0184 a0001c0002t0009g0332 a0001c0002t0009g0343 a0001c0002t0009g0345 a0001c0002t0009g0346 a0001c0003t0007g0266 a0001c0006t0001g0203 a0001c0006t0001g0208 a0001c0006t0001g0227 a0001c0006t0001g0236 a0001c0006t0001g0257 a0001c0006t0001g0265 a0001c0006t0001g0274 a0001c0006t0001g0329 a0001c0006t0001g0339 a0001c0006t0004g0254 a0001c0006t0021g0210 a0001c0008t0018g0104 a0001c0020t0007g0019 a0001c0020t0007g0183 a0001c0023t0003g0036 a0001c0023t0004g0368 a0001c0049t0001g0101 a0001c0064t0001g0341 a0002c0001t0001g0029 a0002c0001t0001g0081 a0002c0001t0001g0117 a0002c0001t0001g0130 a0002c0001t0001g0131 a0002c0001t0001g0138 a0002c0001t0001g0140 a0002c0001t0001g0143 a0002c0001t0001g0165 a0002c0001t0001g0166 a0002c0001t0001g0170 a0002c0001t0001g0173 a0002c0001t0001g0189 a0002c0001t0001g0190 a0002c0001t0001g0212 a0002c0001t0001g0247 a0002c0001t0001g0249 a0002c0001t0001g0250 a0002c0001t0001g0268 a0002c0001t0001g0269 a0002c0001t0001g0330 a0002c0001t0001g0331 a0002c0001t0001g0353 a0002c0001t0006g0021 a0002c0001t0006g0022 a0002c0001t0006g0041 a0002c0001t0006g0071 a0002c0001t0006g0152 a0002c0001t0008g0009 a0002c0001t0013g0135 a0002c0001t0013g0307 a0002c0024t0001g0196 a0002c0024t0001g0202 a0005c0010t0005g0045 a0005c0010t0005g0064 a0005c0030t0005g0116 a0008c0025t0001g0216 a0008c0025t0001g0217 a0009c0017t0001g0253 a0010c0034t0001g0049 a0010c0039t0001g0080 a0013c0022t0003g0113 a0013c0022t0003g0129 a0017c0060t0001g0231 a0018c0058t0020g0023 a0019c0055t0001g0120 a0021c0062t0001g0235 a0022c0038t0001g0336 a0029c0029t0005g0267 a0030c0063t0001g0169 a0032c0048t0029g0260 a0033c0040t0001g0139 a0035c0050t0001g0328 a0037c0035t0001g0214 a0041c0065t0001g0225	87	378	0.2302	-10	c.21- others(27): Show c.21-16592_21-16583delGATGGGCACT		SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	2/9					chr13	TogoVar
SACS_chr13_23323830_23438702	23409040	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00544.hp1 others(94): Show HG00280.hp2 HG00408.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp2 HG01070.hp1 HG01074.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01192.hp1 HG01255.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01884.hp1 HG01928.hp1 HG01934.hp2 HG01993.hp1 HG02015.hp2 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02129.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp2 HG02523.hp1 HG02622.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp2 HG03491.hp2 HG03669.hp1 HG03704.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18957.hp1 NA18960.hp2 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18974.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18988.hp1 NA18989.hp2 NA18992.hp1 NA18995.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19055.hp1 NA19056.hp2 NA19057.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19082.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA21309.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0020 a0023 a0025 a0026 a0028	a0001c0002 a0001c0004 a0001c0006 others(11): Show a0001c0002 a0001c0004 a0001c0006 a0001c0021 a0001c0028 a0001c0066 a0001c0068 a0002c0001 a0004c0007 a0020c0051 a0023c0053 a0025c0042 a0026c0031 a0028c0052	a0001c0002t0002 a0001c0002t0012 a0001c0002t0025 others(15): Show a0001c0002t0002 a0001c0002t0012 a0001c0002t0025 a0001c0004t0002 a0001c0006t0004 a0001c0021t0002 a0001c0028t0002 a0001c0066t0002 a0001c0068t0026 a0002c0001t0001 a0002c0001t0004 a0004c0007t0004 a0004c0007t0017 a0020c0051t0012 a0023c0053t0002 a0025c0042t0002 a0026c0031t0027 a0028c0052t0002	a0001c0002t0002g0024 a0001c0002t0002g0058 a0001c0002t0002g0070 others(93): Show a0001c0002t0002g0024 a0001c0002t0002g0058 a0001c0002t0002g0070 a0001c0002t0002g0076 a0001c0002t0002g0082 a0001c0002t0002g0091 a0001c0002t0002g0094 a0001c0002t0002g0123 a0001c0002t0002g0141 a0001c0002t0002g0153 a0001c0002t0002g0160 a0001c0002t0002g0167 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0191 a0001c0002t0002g0204 a0001c0002t0002g0219 a0001c0002t0002g0224 a0001c0002t0002g0230 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0242 a0001c0002t0002g0256 a0001c0002t0002g0259 a0001c0002t0002g0264 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0295 a0001c0002t0002g0305 a0001c0002t0002g0308 a0001c0002t0002g0324 a0001c0002t0002g0359 a0001c0002t0002g0362 a0001c0002t0012g0005 a0001c0002t0025g0013 a0001c0004t0002g0001 a0001c0004t0002g0095 a0001c0004t0002g0124 a0001c0004t0002g0126 a0001c0004t0002g0132 a0001c0004t0002g0146 a0001c0004t0002g0154 a0001c0004t0002g0162 a0001c0004t0002g0163 a0001c0004t0002g0192 a0001c0004t0002g0193 a0001c0004t0002g0194 a0001c0004t0002g0198 a0001c0004t0002g0218 a0001c0004t0002g0221 a0001c0004t0002g0226 a0001c0004t0002g0243 a0001c0004t0002g0246 a0001c0004t0002g0252 a0001c0004t0002g0275 a0001c0004t0002g0278 a0001c0004t0002g0289 a0001c0004t0002g0333 a0001c0004t0002g0334 a0001c0004t0002g0348 a0001c0004t0002g0349 a0001c0004t0002g0355 a0001c0006t0004g0254 a0001c0021t0002g0239 a0001c0021t0002g0241 a0001c0028t0002g0310 a0001c0066t0002g0136 a0001c0068t0026g0245 a0002c0001t0001g0249 a0002c0001t0001g0268 a0002c0001t0004g0014 a0002c0001t0004g0050 a0002c0001t0004g0072 a0002c0001t0004g0096 a0002c0001t0004g0097 a0002c0001t0004g0099 a0002c0001t0004g0144 a0002c0001t0004g0147 a0002c0001t0004g0156 a0002c0001t0004g0168 a0002c0001t0004g0175 a0002c0001t0004g0206 a0002c0001t0004g0229 a0002c0001t0004g0237 a0002c0001t0004g0277 a0002c0001t0004g0293 a0002c0001t0004g0326 a0004c0007t0004g0052 a0004c0007t0004g0315 a0004c0007t0017g0010 a0020c0051t0012g0011 a0023c0053t0002g0244 a0025c0042t0002g0311 a0026c0031t0027g0205 a0028c0052t0002g0350	97	378	0.2566	-10	c.20+ others(25): Show c.20+2170_20+2179delAAAAAAAAAA		SACS	ENSG00000151835.17	transcript	ENST00000382292.9	protein_coding	2/9					chr13	TogoVar
SAE1_chr19_47125835_47215636	47184798	TTTTTGTT others(3): Show TTTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02027.hp1 HG02109.hp1 others(5): Show HG01261.hp1 HG02027.hp1 HG02109.hp1 HG02809.hp1 HG02886.hp2 HG03041.hp1 HG03195.hp2 NA18950.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0011 a0006c0008 a0001c0001 a0001c0011 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0011t0001 a0006c0008t0006	a0001c0001t0001g0010 a0001c0001t0001g0107 a0001c0001t0002g0094 others(5): Show a0001c0001t0001g0010 a0001c0001t0001g0107 a0001c0001t0002g0094 a0001c0001t0004g0098 a0001c0001t0004g0273 a0001c0001t0008g0231 a0001c0011t0001g0343 a0006c0008t0006g0104	8	380	0.0211	-10	c.734 others(29): Show c.734-12400_734-12391delGTTTTGTTTT		SAE1	ENSG00000142230.13	transcript	ENST00000270225.12	protein_coding	6/8				INFO_REALIGN_3_PRIME	chr19	TogoVar
SAE1_chr19_47125835_47215636	47201360	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01943.hp2 NA18939.hp1 NA18941.hp2 HG01943.hp2 NA18939.hp1 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0237 a0001c0001t0001g0253 a0001c0001t0001g0225 a0001c0001t0001g0237 a0001c0001t0001g0253	3	380	0.0079	-10	c.879 others(27): Show c.879-2291_879-2282delTTTTTTTTTT		SAE1	ENSG00000142230.13	transcript	ENST00000270225.12	protein_coding	7/8				INFO_REALIGN_3_PRIME	chr19	TogoVar
SAFB2_chr19_5581999_5627776	5603616	CTACGCCA others(3): Show CTACGCCAAGG	C C	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0290 a0001c0005t0008g0290	1	350	0.0029	-10	c.155 others(27): Show c.1559+957_1559+966delCCTTGGCGTA		SAFB2	ENSG00000130254.12	transcript	ENST00000252542.9	protein_coding	11/20					chr19	TogoVar
SAFB2_chr19_5581999_5627776	5621299	TGTACAAT others(3): Show TGTACAATACC	T T	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18951.hp1 NA18951.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0001 a0003c0014t0001	a0003c0014t0001g0269 a0003c0014t0001g0269	1	350	0.0029	-10	c.274 others(19): Show c.274_274+9delGGTATTGTAC	p.Gly others(4): Show p.Gly92fs	SAFB2	ENSG00000130254.12	transcript	ENST00000252542.9	protein_coding	2/21	274/2862	92/953			chr19	TogoVar
SAGSIN1_chr7_6324411_6353967	6327728	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	420	0.0024	-10	c.34 others(21): Show c.3477_*3486delTTTTTTTTTT		SAGSIN1	ENSG00000286075.3	transcript	ENST00000578372.2	protein_coding				1682		chr7	TogoVar
SAGSIN1_chr7_6324411_6353967	6330067	TGTTGAAG others(3): Show TGTTGAAGACA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0010 a0001c0001t0021g0010	1	420	0.0024	-10	c.11 others(21): Show c.1138_*1147delTGTCTTCAAC		SAGSIN1	ENSG00000286075.3	transcript	ENST00000578372.2	protein_coding	2/2			1138		chr7	TogoVar
SAGSIN1_chr7_6324411_6353967	6343397	CATATATA others(3): Show CATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG01106.hp2 others(13): Show HG00099.hp1 HG00323.hp2 HG01106.hp2 HG01346.hp1 HG01433.hp1 HG01515.hp1 HG01884.hp2 HG01891.hp2 HG01978.hp1 HG02280.hp1 HG02647.hp2 HG02738.hp1 HG03098.hp2 HG03654.hp2 HG04199.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013	a0001c0001t0002g0355 a0001c0001t0002g0356 a0001c0001t0002g0357 others(12): Show a0001c0001t0002g0355 a0001c0001t0002g0356 a0001c0001t0002g0357 a0001c0001t0002g0391 a0001c0001t0002g0395 a0001c0001t0003g0002 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0116 a0001c0001t0003g0121 a0001c0001t0003g0123 a0001c0001t0005g0392 a0001c0001t0007g0045 a0001c0001t0013g0096	16	420	0.0381	-10	c.186 others(27): Show c.186+5166_186+5175delATATATATAT		SAGSIN1	ENSG00000286075.3	transcript	ENST00000578372.2	protein_coding	1/1					chr7	TogoVar
SAGSIN1_chr7_6324411_6353967	6351226	TTTATTAA others(3): Show TTTATTAATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0357 a0001c0001t0002g0357	1	420	0.0024	-10	c.-24 others(21): Show c.-2478_-2469delTAATTAATAA		SAGSIN1	ENSG00000286075.3	transcript	ENST00000578372.2	protein_coding				2260		chr7	TogoVar
SAGSIN1_chr7_6324411_6353967	6352698	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	420	0.0024	-10	c.-39 others(21): Show c.-3950_-3941delAAAAAAAAAA		SAGSIN1	ENSG00000286075.3	transcript	ENST00000578372.2	protein_coding				3732		chr7	TogoVar
SAG_chr2_233302816_233352055	233321986	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02965.hp2 NA18995.hp2 others(2): Show HG00280.hp2 HG02965.hp2 NA18995.hp2 NA19086.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0002c0007 a0001c0003 a0002c0002 a0002c0007	a0001c0003t0001 a0002c0002t0001 a0002c0007t0001 a0001c0003t0001 a0002c0002t0001 a0002c0007t0001	a0001c0003t0001g0089 a0002c0002t0001g0335 a0002c0002t0001g0336 others(2): Show a0001c0003t0001g0089 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0007t0001g0066 a0002c0007t0001g0067	5	368	0.0136	-10	c.376 others(25): Show c.376-918_376-909delCACACACACA		SAG	ENSG00000130561.17	transcript	ENST00000409110.6	protein_coding	5/15				INFO_REALIGN_3_PRIME	chr2	TogoVar
SALL1_chr16_51130982_51156270	51145217	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02486.hp2 HG02615.hp1 others(3): Show HG02257.hp2 HG02486.hp2 HG02615.hp1 HG02922.hp1 HG03195.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0045 a0001c0002 a0001c0045	a0001c0002t0001 a0001c0045t0001 a0001c0002t0001 a0001c0045t0001	a0001c0002t0001g0008 a0001c0045t0001g0055 a0001c0002t0001g0008 a0001c0045t0001g0055	6	374	0.0160	-10	c.77- others(25): Show c.77-3082_77-3073delGTGTGTGTGT		SALL1	ENSG00000103449.13	transcript	ENST00000251020.9	protein_coding	1/2					chr16	TogoVar
SALL2_chr14_21516080_21531346	21530281	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02897.hp2 HG02809.hp2 HG02897.hp2	a0011 a0020 a0011 a0020	a0011c0011 a0020c0037 a0011c0011 a0020c0037	a0011c0011t0003 a0020c0037t0002 a0011c0011t0003 a0020c0037t0002	a0011c0011t0003g0129 a0020c0037t0002g0126 a0011c0011t0003g0129 a0020c0037t0002g0126	2	472	0.0042	-10	c.-41 others(21): Show c.-4164_-4155delAAAAAAAAAA		SALL2	ENSG00000165821.12	transcript	ENST00000537235.2	protein_coding				3936		chr14	TogoVar
SALL4_chr20_51777331_51807521	51798845	AAAAACAA others(3): Show AAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00642.hp1 HG00673.hp1 others(35): Show HG00597.hp2 HG00642.hp1 HG00673.hp1 HG01081.hp2 HG01346.hp1 HG01891.hp2 HG01934.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02647.hp1 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG03041.hp2 HG03195.hp1 HG03516.hp1 HG03579.hp2 HG03688.hp1 HG04184.hp1 HG04204.hp1 HG06807.hp1 NA18951.hp2 NA18962.hp1 NA18967.hp1 NA18967.hp2 NA18973.hp1 NA18984.hp2 NA18999.hp2 NA19003.hp1 NA19011.hp2 NA19068.hp2 NA19091.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0024 a0002c0002 others(2): Show a0001c0001 a0001c0024 a0002c0002 a0006c0010 a0006c0020	a0001c0001t0001 a0001c0001t0003 a0001c0024t0011 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0024t0011 a0002c0002t0001 a0002c0002t0006 a0002c0002t0011 a0002c0002t0018 a0002c0002t0023 a0002c0002t0025 a0002c0002t0026 a0002c0002t0031 a0002c0002t0034 a0002c0002t0035 a0002c0002t0036 a0002c0002t0056 a0006c0010t0001 a0006c0020t0001	a0001c0001t0001g0061 a0001c0001t0001g0144 a0001c0001t0003g0087 others(29): Show a0001c0001t0001g0061 a0001c0001t0001g0144 a0001c0001t0003g0087 a0001c0024t0011g0186 a0002c0002t0001g0020 a0002c0002t0001g0056 a0002c0002t0001g0107 a0002c0002t0001g0109 a0002c0002t0001g0183 a0002c0002t0006g0010 a0002c0002t0006g0014 a0002c0002t0006g0054 a0002c0002t0006g0055 a0002c0002t0006g0072 a0002c0002t0011g0078 a0002c0002t0011g0079 a0002c0002t0011g0187 a0002c0002t0018g0110 a0002c0002t0023g0053 a0002c0002t0023g0103 a0002c0002t0025g0185 a0002c0002t0026g0073 a0002c0002t0026g0184 a0002c0002t0031g0040 a0002c0002t0034g0106 a0002c0002t0035g0104 a0002c0002t0036g0108 a0002c0002t0056g0105 a0006c0010t0001g0075 a0006c0010t0001g0076 a0006c0010t0001g0077 a0006c0020t0001g0074	38	384	0.0990	-10	c.130 others(27): Show c.130+3424_130+3433delGTTTTGTTTT		SALL4	ENSG00000101115.13	transcript	ENST00000217086.9	protein_coding	1/3					chr20	TogoVar
SAMD11_chr1_918923_949574	925408	TTGGCGCC others(3): Show TTGGCGCCTGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(252): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18956.hp2 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp2 NA18987.hp1 NA18989.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 others(11): Show a0001 a0003 a0006 a0007 a0011 a0012 a0015 a0017 a0019 a0020 a0021 a0023 a0025 a0027	a0001c0001 a0001c0004 a0001c0005 others(18): Show a0001c0001 a0001c0004 a0001c0005 a0001c0009 a0001c0017 a0001c0023 a0001c0046 a0003c0006 a0006c0024 a0007c0012 a0011c0043 a0011c0044 a0012c0025 a0015c0022 a0017c0051 a0019c0041 a0020c0039 a0021c0040 a0023c0042 a0025c0045 a0027c0047	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(33): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0004t0001 a0001c0004t0003 a0001c0004t0012 a0001c0004t0027 a0001c0005t0001 a0001c0009t0003 a0001c0017t0001 a0001c0023t0001 a0001c0046t0014 a0003c0006t0001 a0003c0006t0003 a0006c0024t0003 a0007c0012t0001 a0011c0043t0001 a0011c0044t0031 a0012c0025t0003 a0015c0022t0001 a0017c0051t0001 a0019c0041t0003 a0020c0039t0005 a0021c0040t0003 a0023c0042t0001 a0025c0045t0003 a0027c0047t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(216): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0129 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0182 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0191 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0206 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0005g0007 a0001c0001t0005g0037 a0001c0001t0005g0050 a0001c0001t0005g0121 a0001c0001t0005g0122 a0001c0001t0005g0124 a0001c0001t0005g0125 a0001c0001t0005g0126 a0001c0001t0005g0127 a0001c0001t0005g0128 a0001c0001t0005g0136 a0001c0001t0005g0144 a0001c0001t0012g0363 a0001c0001t0012g0364 a0001c0001t0012g0365 a0001c0001t0013g0157 a0001c0001t0013g0175 a0001c0001t0013g0200 a0001c0001t0014g0045 a0001c0001t0014g0080 a0001c0001t0018g0151 a0001c0001t0018g0152 a0001c0001t0019g0190 a0001c0001t0029g0170 a0001c0001t0030g0205 a0001c0001t0032g0100 a0001c0001t0033g0008 a0001c0004t0001g0005 a0001c0004t0001g0049 a0001c0004t0001g0056 a0001c0004t0001g0057 a0001c0004t0001g0058 a0001c0004t0001g0060 a0001c0004t0001g0061 a0001c0004t0001g0062 a0001c0004t0001g0063 a0001c0004t0001g0064 a0001c0004t0001g0065 a0001c0004t0001g0071 a0001c0004t0001g0096 a0001c0004t0001g0132 a0001c0004t0001g0133 a0001c0004t0001g0134 a0001c0004t0001g0135 a0001c0004t0001g0145 a0001c0004t0003g0153 a0001c0004t0012g0055 a0001c0004t0027g0362 a0001c0005t0001g0017 a0001c0005t0001g0019 a0001c0005t0001g0052 a0001c0005t0001g0054 a0001c0005t0001g0066 a0001c0005t0001g0067 a0001c0005t0001g0069 a0001c0005t0001g0070 a0001c0005t0001g0076 a0001c0005t0001g0077 a0001c0005t0001g0078 a0001c0005t0001g0109 a0001c0009t0003g0180 a0001c0017t0001g0005 a0001c0017t0001g0059 a0001c0023t0001g0091 a0001c0023t0001g0150 a0001c0046t0014g0028 a0003c0006t0001g0089 a0003c0006t0001g0102 a0003c0006t0003g0181 a0003c0006t0003g0183 a0003c0006t0003g0193 a0003c0006t0003g0194 a0003c0006t0003g0213 a0003c0006t0003g0221 a0006c0024t0003g0207 a0006c0024t0003g0208 a0007c0012t0001g0009 a0007c0012t0001g0115 a0007c0012t0001g0131 a0011c0043t0001g0130 a0011c0044t0031g0156 a0012c0025t0003g0195 a0012c0025t0003g0196 a0015c0022t0001g0002 a0017c0051t0001g0104 a0019c0041t0003g0160 a0020c0039t0005g0111 a0021c0040t0003g0174 a0023c0042t0001g0046 a0025c0045t0003g0192 a0027c0047t0001g0053	255	434	0.5876	-10	c.517 others(25): Show c.517+461_517+470delTGGCGCCTGC		SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	1/13					chr1	TogoVar
SAMD12_chr8_118372984_118626963	118394022	TAAGTGAC others(3): Show TAAGTGACAAA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00438.hp2 others(112): Show HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00639.hp2 HG00642.hp2 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG02055.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03831.hp1 HG03831.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18906.hp2 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18960.hp1 NA18964.hp1 NA18974.hp2 NA19030.hp1 NA19056.hp2 NA19065.hp2 NA19081.hp2 NA19084.hp2 NA19087.hp1 NA19088.hp2 NA20129.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(15): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0002t0001 a0001c0002t0014 a0001c0003t0002 a0001c0003t0011 a0002c0004t0002	a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0013 others(112): Show a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0041 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0067 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0101 a0001c0001t0002g0105 a0001c0001t0002g0110 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0143 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0003g0006 a0001c0001t0003g0008 a0001c0001t0003g0029 a0001c0001t0003g0031 a0001c0001t0003g0038 a0001c0001t0003g0040 a0001c0001t0003g0042 a0001c0001t0003g0051 a0001c0001t0003g0055 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0077 a0001c0001t0003g0084 a0001c0001t0003g0092 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0103 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0120 a0001c0001t0003g0125 a0001c0001t0003g0127 a0001c0001t0003g0142 a0001c0001t0003g0156 a0001c0001t0003g0165 a0001c0001t0003g0167 a0001c0001t0003g0176 a0001c0001t0003g0182 a0001c0001t0003g0188 a0001c0001t0004g0054 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0004g0071 a0001c0001t0004g0073 a0001c0001t0004g0076 a0001c0001t0004g0083 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0146 a0001c0001t0004g0184 a0001c0001t0006g0028 a0001c0001t0006g0043 a0001c0001t0006g0053 a0001c0001t0006g0087 a0001c0001t0006g0116 a0001c0001t0007g0007 a0001c0001t0007g0085 a0001c0001t0007g0086 a0001c0001t0007g0115 a0001c0001t0010g0002 a0001c0001t0012g0003 a0001c0001t0015g0152 a0001c0001t0016g0155 a0001c0001t0017g0036 a0001c0001t0018g0089 a0001c0001t0019g0044 a0001c0001t0020g0113 a0001c0002t0001g0072 a0001c0002t0014g0097 a0001c0003t0002g0039 a0001c0003t0002g0049 a0001c0003t0002g0050 a0001c0003t0002g0060 a0001c0003t0002g0068 a0001c0003t0002g0074 a0001c0003t0002g0096 a0001c0003t0002g0111 a0001c0003t0002g0126 a0001c0003t0002g0172 a0001c0003t0002g0181 a0001c0003t0002g0186 a0001c0003t0011g0001 a0002c0004t0002g0047	115	188	0.6117	-10	c.323 others(29): Show c.323-14332_323-14323delTTTGTCACTT		SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	3/3					chr8	TogoVar
SAMD12_chr8_118372984_118626963	118415448	GGTGTGTG others(3): Show GGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02896.hp2 HG02922.hp1 others(5): Show HG02630.hp2 HG02896.hp2 HG02922.hp1 HG03139.hp1 HG03225.hp2 HG03471.hp2 HG03540.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0016 a0001c0002t0001 a0002c0004t0002	a0001c0001t0002g0123 a0001c0001t0003g0008 a0001c0001t0003g0084 others(5): Show a0001c0001t0002g0123 a0001c0001t0003g0008 a0001c0001t0003g0084 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0016g0155 a0001c0002t0001g0034 a0002c0004t0002g0047	8	188	0.0426	-10	c.322 others(29): Show c.322+24374_322+24383delACACACACAC		SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	3/3					chr8	TogoVar
SAMD12_chr8_118372984_118626963	118440657	AACACACA others(3): Show AACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	188	0.0053	-10	c.193 others(25): Show c.193-706_193-697delGTGTGTGTGT		SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3					chr8	TogoVar
SAMD12_chr8_118372984_118626963	118440687	CACACACA others(3): Show CACACACACAA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02622.hp2 HG02630.hp2 others(5): Show HG02559.hp2 HG02622.hp2 HG02630.hp2 HG02922.hp1 HG03225.hp1 HG03471.hp2 HG03540.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0016 a0001c0002t0001	a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0003g0008 others(5): Show a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0003g0008 a0001c0001t0003g0084 a0001c0001t0004g0054 a0001c0001t0004g0057 a0001c0001t0016g0155 a0001c0002t0001g0052	8	188	0.0426	-10	c.193 others(25): Show c.193-736_193-727delTTGTGTGTGT		SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3					chr8	TogoVar
SAMD12_chr8_118372984_118626963	118447700	TTTAATAT others(3): Show TTTAATATTTA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	188	0.0053	-10	c.193 others(27): Show c.193-7749_193-7740delTAAATATTAA		SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3					chr8	TogoVar
SAMD12_chr8_118372984_118626963	118458950	ATGTGTGT others(3): Show ATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02055.hp1 HG02258.hp1 others(11): Show HG01074.hp2 HG02055.hp1 HG02258.hp1 HG02451.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02896.hp1 HG03453.hp2 NA18906.hp1 NA18974.hp1 NA19030.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0017 a0001c0002t0001 a0001c0002t0008 a0001c0002t0014 a0001c0003t0002	a0001c0001t0002g0041 a0001c0001t0002g0078 a0001c0001t0003g0029 others(11): Show a0001c0001t0002g0041 a0001c0001t0002g0078 a0001c0001t0003g0029 a0001c0001t0003g0063 a0001c0001t0003g0125 a0001c0001t0006g0043 a0001c0001t0006g0087 a0001c0001t0017g0036 a0001c0002t0001g0032 a0001c0002t0001g0034 a0001c0002t0008g0080 a0001c0002t0008g0129 a0001c0002t0014g0097 a0001c0003t0002g0126	14	188	0.0745	-10	c.193 others(29): Show c.193-18999_193-18990delCACACACACA		SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3					chr8	TogoVar
SAMD12_chr8_118372984_118626963	118522169	CACACACA others(3): Show CACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00558.hp1 others(54): Show HG00408.hp1 HG00438.hp1 HG00558.hp1 HG00642.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01258.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG02055.hp2 HG02258.hp1 HG02451.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp1 HG03471.hp1 HG03486.hp1 HG03579.hp2 HG03688.hp1 HG04184.hp2 NA18943.hp1 NA18946.hp2 NA18998.hp2 NA19002.hp1 NA19063.hp1 NA19065.hp2 NA19082.hp1 NA19088.hp2 NA20129.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0018 a0001c0002t0001 a0001c0002t0005 a0001c0003t0002	a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0002g0027 others(54): Show a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0002g0027 a0001c0001t0002g0033 a0001c0001t0002g0045 a0001c0001t0002g0067 a0001c0001t0002g0078 a0001c0001t0002g0105 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0003g0008 a0001c0001t0003g0038 a0001c0001t0003g0042 a0001c0001t0003g0051 a0001c0001t0003g0077 a0001c0001t0003g0092 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0142 a0001c0001t0003g0156 a0001c0001t0004g0071 a0001c0001t0004g0076 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0006g0116 a0001c0001t0007g0007 a0001c0001t0010g0002 a0001c0001t0018g0089 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0026 a0001c0002t0001g0052 a0001c0002t0001g0075 a0001c0002t0001g0108 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0169 a0001c0002t0001g0173 a0001c0002t0001g0179 a0001c0002t0005g0021 a0001c0002t0005g0132 a0001c0003t0002g0039 a0001c0003t0002g0049 a0001c0003t0002g0050 a0001c0003t0002g0111 a0001c0003t0002g0126 a0001c0003t0002g0172 a0001c0003t0002g0186	57	188	0.3032	-10	c.192 others(29): Show c.192+58536_192+58545delATGTGTGTGT		SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3					chr8	TogoVar
SAMD12_chr8_118372984_118626963	118522189	CACACACA others(3): Show CACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0083 a0001c0001t0004g0083	1	188	0.0053	-10	c.192 others(29): Show c.192+58516_192+58525delATGTGTGTGT		SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3					chr8	TogoVar
SAMD12_chr8_118372984_118626963	118548384	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03209.hp1 HG02895.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0124 a0001c0001t0007g0007 a0001c0001t0002g0124 a0001c0001t0007g0007	2	188	0.0106	-10	c.192 others(29): Show c.192+32321_192+32330delGTGTGTGTGT		SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3					chr8	TogoVar
SAMD12_chr8_118372984_118626963	118559231	CCAGATTA others(3): Show CCAGATTAAGA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	188	0.0053	-10	c.192 others(29): Show c.192+21474_192+21483delTCTTAATCTG		SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3					chr8	TogoVar
SAMD12_chr8_118372984_118626963	118570713	ATTATACC others(3): Show ATTATACCCAG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03195.hp2 NA19030.hp2 HG00639.hp2 HG03195.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0180 a0001c0001t0002g0185 a0001c0002t0001g0030 a0001c0001t0002g0180 a0001c0001t0002g0185 a0001c0002t0001g0030	3	188	0.0160	-10	c.192 others(28): Show c.192+9992_192+10001delCTGGGTATAA		SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3					chr8	TogoVar
SAMD12_chr8_118372984_118626963	118571412	CTGCAGAA others(3): Show CTGCAGAAATT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	188	0.0053	-10	c.192 others(27): Show c.192+9293_192+9302delAATTTCTGCA		SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3					chr8	TogoVar
SAMD12_chr8_118372984_118626963	118605765	AATATATA others(3): Show AATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	1	188	0.0053	-10	c.13+ others(27): Show c.13+16029_13+16038delATATATATAT		SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	1/3					chr8	TogoVar
SAMD13_chr1_84296708_84355798	84302541	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02965.hp1 HG03540.hp2 others(2): Show HG02559.hp1 HG02965.hp1 HG03540.hp2 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(2): Show a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210	5	316	0.0158	-10	c.-32 others(25): Show c.-32-635_-32-626delACACACACAC		SAMD13	ENSG00000203943.9	transcript	ENST00000394834.8	protein_coding	1/3				INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD13_chr1_84296708_84355798	84311341	AAAAAAAA others(3): Show AAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02965.hp2 HG03041.hp1 others(1): Show HG02622.hp2 HG02965.hp2 HG03041.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(1): Show a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0161	4	316	0.0127	-10	c.53+ others(25): Show c.53+8059_53+8068delAAAAAGAAAA		SAMD13	ENSG00000203943.9	transcript	ENST00000394834.8	protein_coding	2/3				INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD13_chr1_84296708_84355798	84311346	AAAAAGAA others(3): Show AAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	316	0.0032	-10	c.53+ others(25): Show c.53+8074_53+8083delGAAAAGAAAA		SAMD13	ENSG00000203943.9	transcript	ENST00000394834.8	protein_coding	2/3				INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD14_chr17_50105040_50135160	50120319	GGGAGAGG others(3): Show GGGAGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02109.hp1 HG03209.hp2 others(1): Show HG01106.hp1 HG02109.hp1 HG03209.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0042 a0001c0001t0047 a0001c0001t0024 a0001c0001t0042 a0001c0001t0047	a0001c0001t0024g0039 a0001c0001t0042g0250 a0001c0001t0047g0287 a0001c0001t0024g0039 a0001c0001t0042g0250 a0001c0001t0047g0287	4	398	0.0101	-10	c.44- others(25): Show c.44-2002_44-1993delTCTCCTCTCC		SAMD14	ENSG00000167100.15	transcript	ENST00000330175.9	protein_coding	2/9					chr17	TogoVar
SAMD14_chr17_50105040_50135160	50130696	ACGCGCGC others(3): Show ACGCGCGCGCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02818.hp2 others(2): Show HG02451.hp2 HG02486.hp1 HG02818.hp2 HG03516.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0033 a0001c0001t0014 a0001c0001t0033	a0001c0001t0014g0027 a0001c0001t0014g0112 a0001c0001t0014g0114 others(1): Show a0001c0001t0014g0027 a0001c0001t0014g0112 a0001c0001t0014g0114 a0001c0001t0033g0113	5	398	0.0126	-10	c.-12 others(21): Show c.-1202_-1193delCGCGCGCGCG		SAMD14	ENSG00000167100.15	transcript	ENST00000330175.9	protein_coding				537		chr17	TogoVar
SAMD15_chr14_77372379_77397163	77372906	TTATATAT others(3): Show TTATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01123.hp1 NA18522.hp2 others(2): Show HG00735.hp1 HG01123.hp1 NA18522.hp2 NA20129.hp2 NA20805.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0002c0004 a0004c0005 a0002c0002 a0002c0004 a0004c0005	a0002c0002t0002 a0002c0004t0004 a0004c0005t0006 a0002c0002t0002 a0002c0004t0004 a0004c0005t0006	a0002c0002t0002g0041 a0002c0002t0002g0145 a0002c0004t0004g0017 others(2): Show a0002c0002t0002g0041 a0002c0002t0002g0145 a0002c0004t0004g0017 a0002c0004t0004g0091 a0004c0005t0006g0007	5	314	0.0159	-10	c.-45 others(21): Show c.-4512_-4503delTATATATATA		SAMD15	ENSG00000100583.5	transcript	ENST00000216471.5	protein_coding				4472		chr14	TogoVar
SAMD15_chr14_77372379_77397163	77372944	ATATATAT others(3): Show ATATATATATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0101 a0003c0003t0003g0101	1	314	0.0032	-10	c.-44 others(21): Show c.-4474_-4465delTATATATATT		SAMD15	ENSG00000100583.5	transcript	ENST00000216471.5	protein_coding				4434		chr14	TogoVar
SAMD15_chr14_77372379_77397163	77388382	CGTGTGTG others(3): Show CGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0110 a0004c0005t0006g0110	1	314	0.0032	-10	c.178 others(29): Show c.1789-2589_1789-2580delGTGTGTGTGT		SAMD15	ENSG00000100583.5	transcript	ENST00000216471.5	protein_coding	2/2				INFO_REALIGN_3_PRIME	chr14	TogoVar
SAMD3_chr6_130139315_130227951	130154695	GAAAAAAA others(3): Show GAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00558.hp1 others(56): Show HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG01081.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01978.hp2 HG01981.hp2 HG02027.hp1 HG02040.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02135.hp1 HG02293.hp2 HG03540.hp1 HG03927.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18942.hp1 NA18946.hp1 NA18952.hp1 NA18960.hp2 NA18963.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18971.hp2 NA18982.hp1 NA18991.hp1 NA18993.hp1 NA19002.hp1 NA19004.hp2 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19080.hp1 NA19085.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19091.hp1 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0001c0007 others(1): Show a0001c0001 a0001c0004 a0001c0007 a0005c0011	a0001c0001t0001 a0001c0001t0005 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0004t0001 a0001c0007t0001 a0005c0011t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0012 others(54): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0057 a0001c0001t0001g0077 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0295 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0322 a0001c0001t0005g0204 a0001c0004t0001g0298 a0001c0007t0001g0161 a0005c0011t0001g0304	59	338	0.1746	-10	c.102 others(27): Show c.1023+120_1023+129delTTTTTTTTTT		SAMD3	ENSG00000164483.17	transcript	ENST00000439090.7	protein_coding	9/11					chr6	TogoVar
SAMD3_chr6_130139315_130227951	130154710	AAAAAAAA others(3): Show AAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00558.hp2 others(18): Show HG00280.hp1 HG00323.hp2 HG00558.hp2 HG00741.hp1 HG01081.hp1 HG01123.hp1 HG01169.hp1 HG01934.hp1 HG01993.hp2 HG02027.hp2 HG02145.hp2 HG02896.hp1 HG02897.hp2 HG03669.hp1 HG03688.hp2 HG03834.hp2 NA18747.hp1 NA18956.hp1 NA18993.hp2 NA19074.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0102 a0001c0001t0001g0103 others(17): Show a0001c0001t0001g0009 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0181 a0001c0001t0001g0188 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0240 a0001c0001t0001g0294 a0001c0001t0001g0303 a0001c0001t0001g0321	21	338	0.0621	-10	c.102 others(27): Show c.1023+105_1023+114delATTTTTTTTT		SAMD3	ENSG00000164483.17	transcript	ENST00000439090.7	protein_coding	9/11					chr6	TogoVar

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