Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SERTM1_chr13_36669020_36702839	36693149	ATTAGCTT others(6): Show ATTAGCTTCTTTAT	A A	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0072 a0001c0001t0004g0072	1	438	0.0023	-13	c.-17 others(32): Show c.-173-1754_-173-1742delAGCTTCTTTATTT	SERTM1	ENSG00000180440.4	transcript	ENST00000315190.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
SESN1_chr6_108979309_109099846	109044311	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03225.hp2 HG03540.hp1 others(2): Show HG02572.hp1 HG03225.hp2 HG03540.hp1 HG03579.hp1 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0002 a0001c0003t0004g0003 a0001c0003t0004g0004 others(2): Show a0001c0003t0004g0002 a0001c0003t0004g0003 a0001c0003t0004g0004 a0001c0003t0004g0005 a0001c0003t0004g0006	5	184	0.0272	-13	c.280 others(32): Show c.280-41981_280-41969delTTTTTTTTTTTTT	SESN1	ENSG00000080546.14	transcript	ENST00000436639.7	protein_coding	1/9			chr6	TogoVar
SESTD1_chr2_179096678_179269832	179102479	CAATATAT others(6): Show CAATATATCAAAGA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp1 HG02486.hp1 HG02970.hp2 others(1): Show HG02280.hp1 HG02486.hp1 HG02970.hp2 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0098 a0001c0002t0014g0100 a0001c0002t0014g0102 others(1): Show a0001c0002t0014g0098 a0001c0002t0014g0100 a0001c0002t0014g0102 a0001c0002t0014g0116	4	274	0.0146	-13	c.74 others(24): Show c.7407_*7419delTCTTTGATATATT	SESTD1	ENSG00000187231.14	transcript	ENST00000428443.8	protein_coding	18/18	7407		chr2	TogoVar
SESTD1_chr2_179096678_179269832	179145626	AGCACTAT others(6): Show AGCACTATGTGCTT	A A	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0045 a0001c0001t0004g0045	1	274	0.0037	-13	c.637 others(28): Show c.637+763_637+775delAAGCACATAGTGC	SESTD1	ENSG00000187231.14	transcript	ENST00000428443.8	protein_coding	8/17			chr2	TogoVar
SESTD1_chr2_179096678_179269832	179149059	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp2 HG00639.hp2 others(81): Show HG00099.hp1 HG00544.hp2 HG00639.hp2 HG00642.hp2 HG01069.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01261.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01891.hp2 HG01975.hp2 HG01981.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02155.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp2 HG04204.hp2 NA18522.hp1 NA18945.hp2 NA18947.hp2 NA18950.hp1 NA18960.hp2 NA18962.hp1 NA18965.hp1 NA18968.hp2 NA18978.hp1 NA18979.hp2 NA18983.hp2 NA18995.hp2 NA19004.hp2 NA19010.hp2 NA19011.hp1 NA19063.hp1 NA19064.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp2 NA19084.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20905.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0004c0012 a0005c0007	a0001c0001t0004 a0001c0001t0032 a0001c0001t0039 others(24): Show a0001c0001t0004 a0001c0001t0032 a0001c0001t0039 a0001c0002t0002 a0001c0002t0007 a0001c0002t0009 a0001c0002t0010 a0001c0002t0014 a0001c0002t0024 a0001c0002t0033 a0001c0002t0034 a0001c0002t0035 a0001c0002t0036 a0001c0002t0037 a0001c0002t0038 a0001c0002t0040 a0001c0002t0042 a0001c0002t0044 a0001c0002t0046 a0001c0002t0066 a0001c0003t0011 a0001c0003t0026 a0001c0003t0050 a0001c0004t0002 a0001c0009t0004 a0004c0012t0009 a0005c0007t0002	a0001c0001t0004g0001 a0001c0001t0004g0040 a0001c0001t0004g0041 others(80): Show a0001c0001t0004g0001 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0004g0076 a0001c0001t0032g0042 a0001c0001t0039g0053 a0001c0002t0002g0007 a0001c0002t0002g0058 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0082 a0001c0002t0002g0088 a0001c0002t0002g0099 a0001c0002t0002g0104 a0001c0002t0002g0114 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0007g0072 a0001c0002t0007g0089 a0001c0002t0007g0090 a0001c0002t0007g0091 a0001c0002t0007g0092 a0001c0002t0007g0093 a0001c0002t0007g0094 a0001c0002t0007g0095 a0001c0002t0007g0097 a0001c0002t0007g0103 a0001c0002t0007g0115 a0001c0002t0009g0062 a0001c0002t0009g0063 a0001c0002t0009g0064 a0001c0002t0009g0065 a0001c0002t0009g0067 a0001c0002t0009g0069 a0001c0002t0009g0070 a0001c0002t0010g0037 a0001c0002t0010g0105 a0001c0002t0010g0106 a0001c0002t0010g0107 a0001c0002t0010g0111 a0001c0002t0010g0112 a0001c0002t0014g0098 a0001c0002t0014g0100 a0001c0002t0014g0102 a0001c0002t0024g0146 a0001c0002t0024g0147 a0001c0002t0033g0066 a0001c0002t0034g0096 a0001c0002t0035g0059 a0001c0002t0036g0085 a0001c0002t0037g0075 a0001c0002t0038g0113 a0001c0002t0040g0109 a0001c0002t0042g0108 a0001c0002t0044g0006 a0001c0002t0046g0145 a0001c0002t0066g0271 a0001c0003t0011g0166 a0001c0003t0026g0165 a0001c0003t0050g0164 a0001c0004t0002g0071 a0001c0004t0002g0080 a0001c0004t0002g0083 a0001c0004t0002g0084 a0001c0009t0004g0047 a0004c0012t0009g0068 a0005c0007t0002g0087	84	274	0.3066	-13	c.581 others(28): Show c.581+225_581+237delTTTTTTTTTTTTT	SESTD1	ENSG00000187231.14	transcript	ENST00000428443.8	protein_coding	7/17			chr2	TogoVar
SESTD1_chr2_179096678_179269832	179230113	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 NA19068.hp1 HG02896.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0003 a0001c0010t0029 a0001c0001t0003 a0001c0010t0029	a0001c0001t0003g0191 a0001c0010t0029g0144 a0001c0001t0003g0191 a0001c0010t0029g0144	2	274	0.0073	-13	c.-26 others(32): Show c.-26+34373_-26+34385delAAAAAAAAAAAAA	SESTD1	ENSG00000187231.14	transcript	ENST00000428443.8	protein_coding	1/17			chr2	TogoVar
SETBP1_chr18_44675888_45073510	44703348	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	140	0.0071	-13	c.486 others(30): Show c.486+1550_486+1562delTTTTTTTTTTTTT	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44724625	TAGCCTGT others(6): Show TAGCCTGTGACACC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	140	0.0071	-13	c.486 others(32): Show c.486+22798_486+22810delTGTGACACCAGCC	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44806623	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02055.hp2 HG02717.hp2 others(2): Show HG01167.hp1 HG02055.hp2 HG02717.hp2 NA18906.hp2 NA18981.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 a0003c0003t0016	a0001c0001t0001g0028 a0001c0001t0001g0076 a0001c0001t0005g0138 others(2): Show a0001c0001t0001g0028 a0001c0001t0001g0076 a0001c0001t0005g0138 a0002c0002t0001g0023 a0003c0003t0016g0110	5	140	0.0357	-13	c.487 others(32): Show c.487-62578_487-62566delTTTTTTTTTTTTT	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44861229	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0023	1	140	0.0071	-13	c.487 others(30): Show c.487-7986_487-7974delTTTTTTTTTTTTT	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44885844	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02055.hp2 HG02486.hp1 others(13): Show HG01167.hp2 HG02055.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG03195.hp1 HG03453.hp1 HG03471.hp2 HG06807.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 a0001c0001 a0001c0009 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0009t0002 a0002c0002t0001	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 others(13): Show a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0044 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0096 a0001c0001t0001g0105 a0001c0001t0001g0122 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0002g0026 a0001c0001t0003g0100 a0001c0001t0005g0138 a0001c0009t0002g0133 a0002c0002t0001g0023	16	140	0.1143	-13	c.540 others(32): Show c.540+16573_540+16585delACAAAAAAAAAAA	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44925007	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	140	0.0071	-13	c.541 others(32): Show c.541-24858_541-24846delTTTTTTTTTTTTT	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44926758	AAACAAAC others(6): Show AAACAAACAACAAC	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01074.hp2 HG01175.hp1 others(30): Show HG00741.hp1 HG01074.hp2 HG01175.hp1 HG01192.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01934.hp1 HG01981.hp2 HG02004.hp2 HG02040.hp2 HG02080.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02523.hp1 HG02622.hp2 HG03041.hp2 HG03139.hp1 HG03486.hp2 HG03710.hp2 HG04199.hp2 NA18953.hp1 NA18964.hp1 NA18989.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19083.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0009	a0001c0001 a0001c0005 a0001c0012 others(6): Show a0001c0001 a0001c0005 a0001c0012 a0001c0016 a0002c0002 a0003c0003 a0004c0004 a0007c0008 a0009c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0025 a0001c0005t0001 a0001c0005t0002 a0001c0012t0003 a0001c0016t0001 a0002c0002t0019 a0003c0003t0001 a0003c0003t0017 a0003c0003t0018 a0004c0004t0001 a0007c0008t0002 a0009c0017t0001	a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0013 others(30): Show a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0140 a0001c0001t0002g0010 a0001c0001t0002g0066 a0001c0001t0002g0118 a0001c0001t0006g0056 a0001c0001t0006g0092 a0001c0001t0010g0131 a0001c0001t0025g0042 a0001c0005t0001g0112 a0001c0005t0002g0115 a0001c0012t0003g0069 a0001c0016t0001g0101 a0002c0002t0019g0128 a0003c0003t0001g0139 a0003c0003t0017g0052 a0003c0003t0018g0011 a0004c0004t0001g0053 a0007c0008t0002g0080 a0009c0017t0001g0041	33	140	0.2357	-13	c.541 others(32): Show c.541-23117_541-23105delACAACAACAACAA	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	45020258	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp1 HG01071.hp1 others(42): Show HG00099.hp2 HG00741.hp1 HG01071.hp1 HG01167.hp2 HG01192.hp1 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG02040.hp1 HG02083.hp2 HG02132.hp1 HG02165.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02717.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03579.hp2 HG06807.hp2 NA18953.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18981.hp2 NA18989.hp1 NA19000.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19066.hp2 NA19083.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0006	a0001c0001 a0001c0012 a0001c0016 others(5): Show a0001c0001 a0001c0012 a0001c0016 a0003c0003 a0004c0004 a0004c0015 a0005c0006 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0012t0003 a0001c0016t0001 a0003c0003t0008 a0004c0004t0001 a0004c0004t0002 a0004c0004t0007 a0004c0015t0004 a0005c0006t0022 a0006c0007t0002 a0006c0007t0023	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0013 others(42): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0067 a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0132 a0001c0001t0001g0140 a0001c0001t0002g0026 a0001c0001t0002g0039 a0001c0001t0002g0066 a0001c0001t0003g0037 a0001c0001t0003g0057 a0001c0001t0004g0006 a0001c0001t0005g0138 a0001c0001t0006g0056 a0001c0001t0006g0092 a0001c0001t0009g0027 a0001c0001t0009g0077 a0001c0001t0010g0131 a0001c0012t0003g0069 a0001c0016t0001g0101 a0003c0003t0008g0051 a0004c0004t0001g0003 a0004c0004t0001g0004 a0004c0004t0001g0024 a0004c0004t0001g0053 a0004c0004t0001g0054 a0004c0004t0001g0085 a0004c0004t0001g0119 a0004c0004t0002g0078 a0004c0004t0007g0070 a0004c0015t0004g0036 a0005c0006t0022g0089 a0006c0007t0002g0114 a0006c0007t0023g0062	45	140	0.3214	-13	c.400 others(34): Show c.4001-18202_4001-18190delAAAAAAAAAAAAA	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	45072649	GACAGTTT others(6): Show GACAGTTTTGAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG02109.hp2 HG02630.hp1 others(8): Show HG01496.hp1 HG02109.hp2 HG02630.hp1 HG02717.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02976.hp2 HG03516.hp2 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0012 a0002c0002 others(1): Show a0001c0001 a0001c0012 a0002c0002 a0005c0006	a0001c0001t0003 a0001c0001t0005 a0001c0012t0003 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0012t0003 a0002c0002t0005 a0005c0006t0003	a0001c0001t0003g0001 a0001c0001t0003g0037 a0001c0001t0003g0057 others(8): Show a0001c0001t0003g0001 a0001c0001t0003g0037 a0001c0001t0003g0057 a0001c0001t0003g0059 a0001c0001t0003g0100 a0001c0001t0005g0079 a0001c0001t0005g0087 a0001c0001t0005g0138 a0001c0012t0003g0069 a0002c0002t0005g0107 a0005c0006t0003g0022	11	140	0.0786	-13	c.89 others(24): Show c.8952_*8964delACAGTTTTGAGGA	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding		4140		chr18	TogoVar
SETD1A_chr16_30952754_30989664	30988883	CGACCCTC others(6): Show CGACCCTCGGTGCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	274	0.0037	-13	c.48 others(24): Show c.4861_*4873delGACCCTCGGTGCA	SETD1A	ENSG00000099381.20	transcript	ENST00000262519.14	protein_coding		4220		chr16	TogoVar
SETD1B_chr12_121799009_121837656	121814965	TGTGGAGG others(6): Show TGTGGAGGGGGGCA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03225.hp1 HG03453.hp2 others(1): Show HG02451.hp2 HG03225.hp1 HG03453.hp2 HG03579.hp1	a0003 a0022 a0003 a0022	a0003c0010 a0022c0052 a0003c0010 a0022c0052	a0003c0010t0002 a0022c0052t0005 a0003c0010t0002 a0022c0052t0005	a0003c0010t0002g0035 a0003c0010t0002g0039 a0003c0010t0002g0192 others(1): Show a0003c0010t0002g0035 a0003c0010t0002g0039 a0003c0010t0002g0192 a0022c0052t0005g0040	4	262	0.0153	-13	c.271 others(28): Show c.2715+37_2715+49delTGGAGGGGGGCAG	SETD1B	ENSG00000139718.12	transcript	ENST00000604567.6	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
SETD2_chr3_47011436_47169113	47044344	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0115 a0001c0005t0001g0115	1	308	0.0033	-13	c.709 others(32): Show c.7099-1657_7099-1645delTTTTTTTTTTTTT	SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	16/20			chr3	TogoVar
SETD2_chr3_47011436_47169113	47106493	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0069 a0001c0002t0002g0069	1	308	0.0033	-13	c.471 others(30): Show c.4716-386_4716-374delTTTTTTTTTTTTT	SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	5/20			chr3	TogoVar
SETD3_chr14_99392748_99485859	99420947	CGGGGGGG others(6): Show CGGGGGGGGGGGGG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA19057.hp2 HG02055.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0002 a0001c0001t0001 a0001c0010t0002	a0001c0001t0001g0229 a0001c0010t0002g0144 a0001c0001t0001g0229 a0001c0010t0002g0144	2	290	0.0069	-13	c.676 others(30): Show c.676-7026_676-7014delCCCCCCCCCCCCC	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	6/12			chr14	TogoVar
SETD3_chr14_99392748_99485859	99434847	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG03209.hp2 HG02080.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0244 a0001c0001t0001g0227 a0001c0001t0001g0244	2	290	0.0069	-13	c.676 others(32): Show c.676-20926_676-20914delTTTTTTTTTTTTT	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	6/12			chr14	TogoVar
SETD4_chr21_36029541_36065526	36041159	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0237 a0001c0001t0021g0237	1	398	0.0025	-13	c.984 others(28): Show c.984-517_984-505delTTTTTTTTTTTTT	SETD4	ENSG00000185917.14	transcript	ENST00000332131.9	protein_coding	8/11			chr21	TogoVar
SETD5_chr3_9392615_9483154	9426212	CCTTTTTT others(6): Show CCTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	240	0.0042	-13	c.-11 others(32): Show c.-117+1687_-117+1699delCTTTTTTTTTTTT	SETD5	ENSG00000168137.20	transcript	ENST00000402198.7	protein_coding	2/22			chr3	TogoVar
SETDB1_chr1_150921363_150969737	150923910	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01358.hp2 HG03041.hp2 others(9): Show HG01109.hp1 HG01358.hp2 HG03041.hp2 HG03239.hp1 HG03669.hp1 HG03710.hp2 NA18950.hp1 NA18951.hp1 NA18963.hp1 NA18978.hp2 NA19011.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0020 a0001c0001 a0001c0020	a0001c0001t0001 a0001c0020t0001 a0001c0001t0001 a0001c0020t0001	a0001c0001t0001g0011 a0001c0001t0001g0062 a0001c0001t0001g0098 others(8): Show a0001c0001t0001g0011 a0001c0001t0001g0062 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0163 a0001c0001t0001g0171 a0001c0001t0001g0179 a0001c0020t0001g0109	12	352	0.0341	-13	c.-26 others(24): Show c.-2618_-2606delAAAAAAAAAAAAA	SETDB1	ENSG00000143379.13	transcript	ENST00000692827.1	protein_coding		2452		chr1	TogoVar
SETDB1_chr1_150921363_150969737	150930519	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	352	0.0028	-13	c.412 others(28): Show c.412+416_412+428delTTTTTTTTTTTTT	SETDB1	ENSG00000143379.13	transcript	ENST00000692827.1	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
SETDB1_chr1_150921363_150969737	150933767	CTTTTTCT others(6): Show CTTTTTCTTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG01169.hp1 others(7): Show HG00099.hp1 HG00099.hp2 HG01169.hp1 HG01169.hp2 HG01257.hp1 HG01258.hp2 HG03654.hp1 NA18951.hp2 NA18962.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0019 a0001c0001t0001g0038 a0001c0001t0001g0039 others(7): Show a0001c0001t0001g0019 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0147 a0001c0001t0001g0190 a0001c0001t0001g0211 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0002g0294 a0001c0001t0005g0034	10	352	0.0284	-13	c.412 others(30): Show c.412+3655_412+3667delCTTTTTCTTTTTT	SETDB1	ENSG00000143379.13	transcript	ENST00000692827.1	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
SETX_chr9_132256356_132359986	132292510	AAAAGACA others(6): Show AAAAGACAACAAAT	A A	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18962.hp2 NA18963.hp2 others(5): Show NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18982.hp2 NA18998.hp2 NA19010.hp2 NA19057.hp1	a0008 a0008	a0008c0008 a0008c0045 a0008c0008 a0008c0045	a0008c0008t0001 a0008c0008t0029 a0008c0045t0001 a0008c0008t0001 a0008c0008t0029 a0008c0045t0001	a0008c0008t0001g0082 a0008c0008t0001g0191 a0008c0008t0001g0193 others(5): Show a0008c0008t0001g0082 a0008c0008t0001g0191 a0008c0008t0001g0193 a0008c0008t0001g0195 a0008c0008t0001g0196 a0008c0008t0001g0235 a0008c0008t0029g0192 a0008c0045t0001g0194	8	362	0.0221	-13	c.610 others(32): Show c.6106+3349_6106+3361delATTTGTTGTCTTT	SETX	ENSG00000107290.14	transcript	ENST00000224140.6	protein_coding	15/25			chr9	TogoVar
SET_chr9_128684222_128701396	128687954	CGCCTGTA others(6): Show CGCCTGTAATCCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	396	0.0025	-13	c.-16 others(24): Show c.-1628_-1616delGCCTGTAATCCCA	SET	ENSG00000119335.18	transcript	ENST00000322030.13	protein_coding		1267		chr9	TogoVar
SEZ6L_chr22_26164462_26388596	26285447	TCCTGAGG others(6): Show TCCTGAGGGCAGTG	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01070.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0155 a0001c0001t0001g0156	2	240	0.0083	-13	c.95- others(28): Show c.95-6956_95-6944delTGAGGGCAGTGCC	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26304363	AAGAAAGA others(6): Show AAGAAAGAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0185 a0001c0003t0005g0185	1	240	0.0042	-13	c.134 others(32): Show c.1349-1614_1349-1602delGAAAGAAGAAAGA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SF3A3_chr1_37951975_37995022	37961759	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02896.hp1 HG02897.hp1 others(1): Show HG02615.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0084 a0001c0001t0006g0085 a0001c0001t0006g0086 others(1): Show a0001c0001t0006g0084 a0001c0001t0006g0085 a0001c0001t0006g0086 a0001c0001t0006g0087	4	400	0.0100	-13	c.137 others(32): Show c.1373-1597_1373-1585delTTTTTTTTTTTTT	SF3A3	ENSG00000183431.12	transcript	ENST00000373019.5	protein_coding	15/16			chr1	TogoVar
SF3B1_chr2_197384784_197440028	197418234	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18940.hp1 NA18950.hp1 others(3): Show HG02809.hp1 NA18940.hp1 NA18950.hp1 NA18963.hp2 NA19006.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0010 a0001c0001t0001g0030 a0001c0002t0002g0006 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0030 a0001c0002t0002g0006 a0001c0002t0002g0165 a0001c0002t0002g0274	6	344	0.0174	-13	c.495 others(28): Show c.495+262_495+274delTTTTTTTTTTTTT	SF3B1	ENSG00000115524.17	transcript	ENST00000335508.11	protein_coding	5/24			chr2	TogoVar
SF3B6_chr2_24062586_24081326	24075346	TTTCTTTC others(6): Show TTTCTTTCTTTCTG	T T	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02630.hp1 HG02809.hp1 others(6): Show HG01358.hp1 HG02630.hp1 HG02809.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03225.hp1 HG03225.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0084 a0001c0001t0001g0009 a0001c0001t0001g0084	9	350	0.0257	-13	c.30+ others(26): Show c.30+841_30+853delCAGAAAGAAAGAA	SF3B6	ENSG00000115128.7	transcript	ENST00000233468.5	protein_coding	1/3			chr2	TogoVar
SFI1_chr22_31491536_31623588	31500788	GTTTTGTT others(6): Show GTTTTGTTTTTGTT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00408.hp2 others(87): Show HG00140.hp1 HG00323.hp2 HG00408.hp2 HG00609.hp1 HG00673.hp1 HG00735.hp1 HG01071.hp1 HG01168.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01346.hp2 HG01361.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02145.hp1 HG02257.hp2 HG02280.hp1 HG02293.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03130.hp1 HG03139.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18943.hp1 NA18957.hp2 NA18962.hp2 NA18972.hp2 NA18979.hp2 NA18983.hp2 NA18992.hp2 NA18993.hp1 NA19009.hp1 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19066.hp2 NA19070.hp1 NA19079.hp1 NA19091.hp1 NA19240.hp2 NA20752.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0005 a0006 a0008 a0013 a0016 a0020 a0021 a0023 a0024 a0025 a0027 a0028 a0033 a0035	a0001c0002 a0001c0006 a0002c0001 others(18): Show a0001c0002 a0001c0006 a0002c0001 a0003c0003 a0003c0030 a0003c0032 a0003c0036 a0005c0005 a0006c0013 a0008c0009 a0013c0012 a0016c0018 a0020c0037 a0021c0033 a0023c0035 a0024c0052 a0025c0034 a0027c0047 a0028c0048 a0033c0049 a0035c0031	a0001c0002t0001 a0001c0006t0001 a0002c0001t0001 others(18): Show a0001c0002t0001 a0001c0006t0001 a0002c0001t0001 a0003c0003t0001 a0003c0030t0001 a0003c0032t0001 a0003c0036t0001 a0005c0005t0001 a0006c0013t0001 a0008c0009t0001 a0013c0012t0001 a0016c0018t0001 a0020c0037t0001 a0021c0033t0001 a0023c0035t0001 a0024c0052t0001 a0025c0034t0001 a0027c0047t0001 a0028c0048t0001 a0033c0049t0001 a0035c0031t0001	a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 others(87): Show a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0138 a0001c0002t0001g0165 a0001c0006t0001g0149 a0002c0001t0001g0130 a0002c0001t0001g0181 a0003c0003t0001g0118 a0003c0003t0001g0119 a0003c0003t0001g0120 a0003c0003t0001g0121 a0003c0003t0001g0122 a0003c0003t0001g0151 a0003c0003t0001g0154 a0003c0003t0001g0155 a0003c0003t0001g0156 a0003c0003t0001g0159 a0003c0003t0001g0160 a0003c0003t0001g0161 a0003c0003t0001g0163 a0003c0003t0001g0164 a0003c0003t0001g0166 a0003c0003t0001g0167 a0003c0003t0001g0168 a0003c0003t0001g0169 a0003c0003t0001g0170 a0003c0003t0001g0171 a0003c0003t0001g0172 a0003c0003t0001g0174 a0003c0003t0001g0176 a0003c0003t0001g0177 a0003c0003t0001g0178 a0003c0003t0001g0179 a0003c0003t0001g0180 a0003c0003t0001g0182 a0003c0003t0001g0183 a0003c0003t0001g0186 a0003c0003t0001g0187 a0003c0003t0001g0188 a0003c0003t0001g0189 a0003c0003t0001g0191 a0003c0003t0001g0192 a0003c0003t0001g0193 a0003c0003t0001g0194 a0003c0003t0001g0195 a0003c0003t0001g0197 a0003c0003t0001g0198 a0003c0003t0001g0200 a0003c0003t0001g0201 a0003c0003t0001g0202 a0003c0003t0001g0204 a0003c0003t0001g0207 a0003c0003t0001g0208 a0003c0003t0001g0209 a0003c0030t0001g0152 a0003c0032t0001g0145 a0003c0036t0001g0185 a0005c0005t0001g0127 a0005c0005t0001g0129 a0005c0005t0001g0131 a0005c0005t0001g0133 a0005c0005t0001g0137 a0005c0005t0001g0140 a0005c0005t0001g0141 a0005c0005t0001g0142 a0005c0005t0001g0143 a0005c0005t0001g0147 a0005c0005t0001g0150 a0006c0013t0001g0157 a0006c0013t0001g0158 a0008c0009t0001g0128 a0008c0009t0001g0132 a0008c0009t0001g0134 a0008c0009t0001g0135 a0008c0009t0001g0136 a0013c0012t0001g0162 a0013c0012t0001g0173 a0013c0012t0001g0184 a0016c0018t0001g0196 a0016c0018t0001g0199 a0020c0037t0001g0175 a0021c0033t0001g0126 a0023c0035t0001g0153 a0024c0052t0001g0203 a0025c0034t0001g0190 a0027c0047t0001g0148 a0028c0048t0001g0139 a0033c0049t0001g0146 a0035c0031t0001g0144	90	322	0.2795	-13	c.-31 others(30): Show c.-31+4162_-31+4174delGTTTTTTGTTTTT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	1/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31568214	ATATATAT others(6): Show ATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01993.hp1 HG02683.hp2 others(4): Show HG01891.hp1 HG01993.hp1 HG02683.hp2 HG02818.hp2 HG03688.hp1 HG03710.hp2 HG06807.hp1	a0006 a0006	a0006c0008 a0006c0013 a0006c0008 a0006c0013	a0006c0008t0001 a0006c0013t0001 a0006c0008t0001 a0006c0013t0001	a0006c0008t0001g0015 a0006c0008t0001g0016 a0006c0008t0001g0316 others(4): Show a0006c0008t0001g0015 a0006c0008t0001g0016 a0006c0008t0001g0316 a0006c0008t0001g0318 a0006c0008t0001g0319 a0006c0013t0001g0157 a0006c0013t0001g0158	7	322	0.0217	-13	c.766 others(30): Show c.766-4842_766-4830delATATATATATATT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31606693	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01891.hp1 HG01993.hp1 others(7): Show HG00738.hp2 HG01891.hp1 HG01993.hp1 HG02683.hp2 HG02818.hp2 HG03139.hp2 HG03688.hp1 HG03710.hp2 HG06807.hp1 NA19030.hp1	a0006 a0006	a0006c0008 a0006c0013 a0006c0045 a0006c0008 a0006c0013 a0006c0045	a0006c0008t0001 a0006c0013t0001 a0006c0045t0001 a0006c0008t0001 a0006c0013t0001 a0006c0045t0001	a0006c0008t0001g0015 a0006c0008t0001g0016 a0006c0008t0001g0316 others(7): Show a0006c0008t0001g0015 a0006c0008t0001g0016 a0006c0008t0001g0316 a0006c0008t0001g0317 a0006c0008t0001g0318 a0006c0008t0001g0319 a0006c0008t0001g0320 a0006c0013t0001g0157 a0006c0013t0001g0158 a0006c0045t0001g0033	10	322	0.0311	-13	c.215 others(30): Show c.2157+274_2157+286delTTTTTTTTTTTTT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	21/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFMBT1_chr3_52898572_53051073	52916356	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02976.hp2 HG03139.hp2 others(4): Show HG02486.hp1 HG02976.hp2 HG03139.hp2 HG03516.hp1 NA19030.hp2 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0159 others(4): Show a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0167	7	328	0.0213	-13	c.141 others(30): Show c.1416-155_1416-143delAAAAAAAAAAAAA	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	13/20			chr3	TogoVar
SFMBT1_chr3_52898572_53051073	52966005	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	328	0.0031	-13	c.28+ others(28): Show c.28+3083_28+3095delTTTTTTTTTTTTT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	2/20			chr3	TogoVar
SFMBT1_chr3_52898572_53051073	53013615	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0170 a0001c0001t0007g0170	1	328	0.0031	-13	c.-13 others(34): Show c.-131+32188_-131+32200delAAAAAAAAAAAAA	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	1/20			chr3	TogoVar
SFMBT1_chr3_52898572_53051073	53040968	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02083.hp1 HG02723.hp1 others(2): Show HG01074.hp1 HG02083.hp1 HG02723.hp1 HG03139.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0097 a0001c0001t0004g0321 a0001c0001t0004g0325 others(2): Show a0001c0001t0002g0097 a0001c0001t0004g0321 a0001c0001t0004g0325 a0001c0001t0004g0326 a0001c0001t0004g0327	5	328	0.0152	-13	c.-13 others(32): Show c.-131+4835_-131+4847delAAAAAAAAAAAAA	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	1/20			chr3	TogoVar
SFMBT2_chr10_7153624_7416034	7376727	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00642.hp2 HG00741.hp2 others(76): Show HG00408.hp1 HG00642.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01496.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01993.hp1 HG02080.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 NA18906.hp1 NA18906.hp2 NA18983.hp1 NA18983.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19043.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0010 a0002c0005 a0003c0004 a0004c0009 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0029 a0001c0001t0031 a0001c0001t0034 a0001c0002t0001 a0001c0002t0002 a0001c0002t0011 a0001c0002t0023 a0001c0002t0024 a0001c0003t0006 a0001c0006t0006 a0001c0007t0002 a0001c0010t0027 a0002c0005t0001 a0003c0004t0007 a0004c0009t0005 a0006c0008t0001	a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0044 others(76): Show a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0044 a0001c0001t0001g0083 a0001c0001t0001g0114 a0001c0001t0001g0125 a0001c0001t0001g0139 a0001c0001t0002g0007 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0002g0084 a0001c0001t0002g0106 a0001c0001t0002g0112 a0001c0001t0002g0127 a0001c0001t0002g0131 a0001c0001t0003g0030 a0001c0001t0003g0033 a0001c0001t0003g0081 a0001c0001t0003g0086 a0001c0001t0003g0093 a0001c0001t0003g0099 a0001c0001t0003g0134 a0001c0001t0003g0138 a0001c0001t0004g0024 a0001c0001t0004g0053 a0001c0001t0004g0069 a0001c0001t0004g0098 a0001c0001t0005g0012 a0001c0001t0005g0027 a0001c0001t0005g0092 a0001c0001t0007g0055 a0001c0001t0008g0058 a0001c0001t0008g0102 a0001c0001t0008g0126 a0001c0001t0009g0043 a0001c0001t0009g0056 a0001c0001t0009g0089 a0001c0001t0009g0117 a0001c0001t0010g0003 a0001c0001t0010g0045 a0001c0001t0010g0091 a0001c0001t0012g0080 a0001c0001t0013g0004 a0001c0001t0013g0116 a0001c0001t0014g0097 a0001c0001t0015g0085 a0001c0001t0015g0087 a0001c0001t0016g0076 a0001c0001t0017g0021 a0001c0001t0017g0048 a0001c0001t0018g0031 a0001c0001t0019g0051 a0001c0001t0019g0074 a0001c0001t0020g0088 a0001c0001t0020g0129 a0001c0001t0022g0128 a0001c0001t0029g0041 a0001c0001t0031g0136 a0001c0001t0034g0133 a0001c0002t0001g0010 a0001c0002t0001g0101 a0001c0002t0002g0090 a0001c0002t0002g0094 a0001c0002t0002g0100 a0001c0002t0011g0015 a0001c0002t0023g0104 a0001c0002t0024g0072 a0001c0003t0006g0014 a0001c0003t0006g0018 a0001c0006t0006g0013 a0001c0007t0002g0096 a0001c0010t0027g0026 a0002c0005t0001g0059 a0003c0004t0007g0025 a0003c0004t0007g0040 a0004c0009t0005g0046 a0006c0008t0001g0124	79	144	0.5486	-13	c.100 others(30): Show c.100+5059_100+5071delTTTTTTTTTTTTT	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	2/20			chr10	TogoVar
SFMBT2_chr10_7153624_7416034	7393021	ATATATAT others(6): Show ATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02145.hp1 HG03098.hp1 others(1): Show HG01255.hp1 HG02145.hp1 HG03098.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0003 a0001c0001t0014 a0001c0002t0024 others(1): Show a0001c0001t0003 a0001c0001t0014 a0001c0002t0024 a0001c0006t0006	a0001c0001t0003g0023 a0001c0001t0014g0060 a0001c0002t0024g0072 others(1): Show a0001c0001t0003g0023 a0001c0001t0014g0060 a0001c0002t0024g0072 a0001c0006t0006g0066	4	144	0.0278	-13	c.-51 others(32): Show c.-51-11085_-51-11073delATATATATATATA	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	1/20			chr10	TogoVar
SFN_chr1_26858149_26869456	26868247	TTTCTCTC others(6): Show TTTCTCTCTCTCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	332	0.0030	-13	c.42 others(24): Show c.4289_*4301delTTCTCTCTCTCTC	SFN	ENSG00000175793.12	transcript	ENST00000339276.6	protein_coding		3792		chr1	TogoVar
SFRP1_chr8_41256962_41314473	41270632	TGAGTCCA others(6): Show TGAGTCCAGGTGGC	T T	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0352 a0002c0002t0002g0352	1	384	0.0026	-13	c.623 others(30): Show c.623-5156_623-5144delGCCACCTGGACTC	SFRP1	ENSG00000104332.12	transcript	ENST00000220772.8	protein_coding	2/2			chr8	TogoVar
SFRP1_chr8_41256962_41314473	41313346	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG02280.hp2 HG01256.hp1 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0243 a0001c0001t0001g0206 a0001c0001t0001g0243	2	384	0.0052	-13	c.-42 others(24): Show c.-4200_-4188delAAAAAAAAAAAAA	SFRP1	ENSG00000104332.12	transcript	ENST00000220772.8	protein_coding		3874		chr8	TogoVar
SFRP2_chr4_153775591_153794083	153789504	GGGTGTGT others(6): Show GGGTGTGTGTGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	434	0.0023	-13	c.-68 others(22): Show c.-682_-670delACACACACACACC	SFRP2	ENSG00000145423.5	transcript	ENST00000274063.5	protein_coding		422		chr4	TogoVar
SFRP4_chr7_37900932_37921817	37920660	AAGGCAGT others(6): Show AAGGCAGTGGCAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00544.hp1 others(67): Show HG00099.hp1 HG00423.hp2 HG00544.hp1 HG00738.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01261.hp2 HG01496.hp2 HG01934.hp2 HG02083.hp1 HG02129.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02647.hp2 HG02818.hp1 HG02976.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03492.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp2 HG04204.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18953.hp2 NA18955.hp1 NA18963.hp2 NA18965.hp1 NA18967.hp1 NA18969.hp2 NA18977.hp1 NA18981.hp1 NA18984.hp2 NA18987.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA19007.hp1 NA19010.hp2 NA19030.hp1 NA19055.hp1 NA19058.hp1 NA19063.hp2 NA19065.hp2 NA19067.hp1 NA19078.hp1 NA19080.hp2 NA19082.hp1 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0008 a0001c0009 others(4): Show a0001c0001 a0001c0008 a0001c0009 a0001c0014 a0002c0007 a0003c0002 a0005c0012	a0001c0001t0003 a0001c0001t0020 a0001c0008t0003 others(5): Show a0001c0001t0003 a0001c0001t0020 a0001c0008t0003 a0001c0009t0012 a0001c0014t0003 a0002c0007t0008 a0003c0002t0005 a0005c0012t0003	a0001c0001t0003g0002 a0001c0001t0003g0019 a0001c0001t0003g0028 others(12): Show a0001c0001t0003g0002 a0001c0001t0003g0019 a0001c0001t0003g0028 a0001c0001t0003g0043 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0067 a0001c0001t0020g0042 a0001c0008t0003g0018 a0001c0009t0012g0041 a0001c0009t0012g0047 a0001c0014t0003g0068 a0002c0007t0008g0039 a0003c0002t0005g0005 a0005c0012t0003g0044	70	472	0.1483	-13	c.-41 others(24): Show c.-4136_-4124delGCTGCCACTGCCT	SFRP4	ENSG00000106483.12	transcript	ENST00000436072.7	protein_coding		3844		chr7	TogoVar
SFRP5_chr10_97761751_97776999	97763912	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	380	0.0026	-13	c.35 others(24): Show c.3589_*3601delCTTTTTTTTTTTT	SFRP5	ENSG00000120057.5	transcript	ENST00000266066.4	protein_coding		2838		chr10	TogoVar
SFSWAP_chr12_131706090_131804738	131801478	TCGTGTTT others(6): Show TCGTGTTTGCCGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00733.hp1 HG01069.hp2 others(21): Show HG00323.hp1 HG00733.hp1 HG01069.hp2 HG01071.hp1 HG01123.hp1 HG01261.hp2 HG01361.hp1 HG01517.hp1 HG01891.hp1 HG01975.hp2 HG02055.hp1 HG02258.hp2 HG02273.hp1 HG02300.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp2 HG02895.hp1 HG02897.hp1 HG03209.hp2 HG03239.hp1 HG03516.hp1 NA21309.hp1 NA21309.hp2	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0001 a0004c0009 a0009c0027 a0001c0001 a0004c0009 a0009c0027	a0001c0001t0001 a0001c0001t0003 a0004c0009t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0004c0009t0001 a0009c0027t0001	a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0063 others(21): Show a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0004c0009t0001g0052 a0004c0009t0001g0053 a0009c0027t0001g0051	24	318	0.0755	-13	c.19 others(24): Show c.1991_*2003delCGTGTTTGCCGTG	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding		1741		chr12	TogoVar
SFTPA2_chr10_79550852_79565407	79563780	ATTGTTAA others(6): Show ATTGTTAACTATAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0010 a0010	a0010c0019 a0010c0019	a0010c0019t0001 a0010c0019t0001	a0010c0019t0001g0112 a0010c0019t0001g0112	1	472	0.0021	-13	c.-34 others(24): Show c.-3483_-3471delCTATAGTTAACAA	SFTPA2	ENSG00000185303.17	transcript	ENST00000372325.7	protein_coding		3374		chr10	TogoVar

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