Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SMAP1_chr6_70662883_70867003	70855050	T T	TCATATAC others(23): Show TCATATACATATACATATACATATACATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp2 HG01496.hp1 others(7): Show HG00323.hp1 HG00738.hp2 HG01496.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02165.hp2 HG02451.hp1 HG03927.hp2 NA18939.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0003 a0001c0001 a0002c0002 a0004c0003	a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0002 a0004c0003t0012	a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0095 others(7): Show a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0104 a0001c0001t0001g0128 a0001c0001t0001g0154 a0001c0001t0001g0168 a0001c0001t0003g0067 a0002c0002t0002g0298 a0004c0003t0012g0037	10	53	0.1887	30	c.790 others(47): Show c.790-1777_790-1748dupATATACATATACATATACATATACATAT AC	SMAP1	ENSG00000112305.15	transcript	ENST00000370455.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMARCA1_chrX_129441506_129528490	129518122	G G	GACTTCTA others(23): Show GACTTCTAGTCCTAACTATGACATATAGCTT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	277	0.0036	30	c.261 others(45): Show c.261+209_261+238dupAAGCTATATGTCATAGTTAGGACTAGAAGT	SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	2/24			chrX	TogoVar
SMARCA4_chr19_10956030_11067273	11061204	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0270 a0001c0006t0001g0272 a0001c0006t0001g0270 a0001c0006t0001g0272	2	192	0.0104	30	c.491 others(47): Show c.4912-579_4912-578insAAAAAATATATATATATATATATATATA TA	SMARCA4	ENSG00000127616.22	transcript	ENST00000344626.10	protein_coding	34/34		INFO_REALIGN_3_PRIME	chr19	TogoVar
SMARCC1_chr3_47580269_47786893	47747440	A A	AAAATATA others(23): Show AAAATATAAATATAAATATAAATATAAATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00735.hp1 HG01081.hp1 others(29): Show HG00544.hp1 HG00735.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01169.hp1 HG01257.hp1 HG01258.hp2 HG01943.hp1 HG02015.hp1 HG02040.hp1 HG02258.hp1 HG02602.hp1 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp2 HG03098.hp1 HG03239.hp2 HG03471.hp1 HG03540.hp2 HG03710.hp2 HG04228.hp1 NA18747.hp2 NA18942.hp2 NA18961.hp2 NA18998.hp2 NA19005.hp1 NA19007.hp1 NA19043.hp1 NA19065.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0002 a0001c0004t0001 a0001c0007t0001 a0003c0006t0002	a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0022 others(29): Show a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0072 a0001c0001t0001g0082 a0001c0001t0001g0147 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0002g0003 a0001c0001t0005g0188 a0001c0002t0002g0110 a0001c0004t0001g0075 a0001c0007t0001g0056 a0003c0006t0002g0002	32	49	0.6531	30	c.316 others(47): Show c.316-1477_316-1448dupATATTTATATTTATATTTATATTTATAT TT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	2/27			chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47749670	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01981.hp2 HG02451.hp2 others(1): Show HG01978.hp1 HG01981.hp2 HG02451.hp2 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0084 a0001c0002t0002g0094 a0001c0002t0002g0159 others(1): Show a0001c0001t0001g0084 a0001c0002t0002g0094 a0001c0002t0002g0159 a0001c0002t0002g0166	4	31	0.1290	30	c.316 others(47): Show c.316-3678_316-3677insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	2/27			chr3	TogoVar
SMARCD1_chr12_50080342_50105707	50086479	T T	TTGGTGGT others(23): Show TTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp2 HG02622.hp1 others(4): Show HG02258.hp1 HG02258.hp2 HG02622.hp1 HG02922.hp2 HG03486.hp1 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0016 a0001c0001t0001g0054 a0001c0001t0001g0055 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0009g0053	7	113	0.0619	30	c.366 others(45): Show c.366-120_366-119insGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT	SMARCD1	ENSG00000066117.15	transcript	ENST00000394963.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
SMARCE1_chr17_40619962_40652818	40626865	A A	ACTCCAAC others(23): Show ACTCCAACTCAAAAAAAAAAAAAAAAAAAGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(184): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG01952.hp2 HG01981.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp2 NA18967.hp1 NA18972.hp2 NA18973.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19072.hp1 NA19077.hp1 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19087.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0004 a0004c0005 a0001c0001 a0003c0004 a0004c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(15): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0019 a0001c0001t0022 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0037 a0001c0001t0038 a0003c0004t0002 a0004c0005t0002	a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0015 others(53): Show a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0025 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0004g0002 a0001c0001t0004g0007 a0001c0001t0004g0010 a0001c0001t0004g0020 a0001c0001t0004g0034 a0001c0001t0004g0068 a0001c0001t0004g0071 a0001c0001t0004g0087 a0001c0001t0004g0094 a0001c0001t0004g0112 a0001c0001t0004g0137 a0001c0001t0005g0006 a0001c0001t0005g0008 a0001c0001t0005g0012 a0001c0001t0005g0021 a0001c0001t0005g0040 a0001c0001t0005g0107 a0001c0001t0005g0110 a0001c0001t0006g0041 a0001c0001t0006g0042 a0001c0001t0006g0043 a0001c0001t0006g0103 a0001c0001t0006g0104 a0001c0001t0019g0038 a0001c0001t0022g0047 a0001c0001t0026g0075 a0001c0001t0027g0086 a0001c0001t0028g0077 a0001c0001t0029g0078 a0001c0001t0030g0079 a0001c0001t0032g0081 a0001c0001t0033g0119 a0001c0001t0034g0102 a0001c0001t0037g0106 a0001c0001t0038g0105 a0003c0004t0002g0084 a0004c0005t0002g0069	187	293	0.6382	30	c.19 others(41): Show c.1919_*1920insGCTTTTTTTTTTTTTTTTTTTGAGTTGGAG	SMARCE1	ENSG00000073584.20	transcript	ENST00000348513.12	protein_coding	11/11	1919		chr17	TogoVar
SMCHD1_chr18_2650726_2810017	2708907	T T	TATATATA others(23): Show TATATATATATATATATATATATATATAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0007 a0004c0008t0007	a0004c0008t0007g0224 a0004c0008t0007g0224	1	66	0.0152	30	c.226 others(47): Show c.2260+988_2260+989insTATATATATATATATATATATATATAAA AA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2708907	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA19003.hp2 NA19077.hp2 others(1): Show NA18941.hp1 NA19003.hp2 NA19077.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0003 a0001c0004 a0003c0003	a0001c0004t0001 a0001c0004t0022 a0001c0004t0030 others(1): Show a0001c0004t0001 a0001c0004t0022 a0001c0004t0030 a0003c0003t0003	a0001c0004t0001g0091 a0001c0004t0022g0060 a0001c0004t0030g0049 others(1): Show a0001c0004t0001g0091 a0001c0004t0022g0060 a0001c0004t0030g0049 a0003c0003t0003g0111	4	69	0.0580	30	c.226 others(47): Show c.2260+988_2260+989insTATATATATATATATATATATATATATA AA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2709232	G G	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18951.hp1 NA18952.hp2 others(1): Show HG03831.hp2 NA18951.hp1 NA18952.hp2 NA18972.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0002 a0001c0004t0002 a0001c0002t0001 a0001c0002t0002 a0001c0004t0002	a0001c0002t0001g0166 a0001c0002t0002g0165 a0001c0002t0002g0174 others(1): Show a0001c0002t0001g0166 a0001c0002t0002g0165 a0001c0002t0002g0174 a0001c0004t0002g0175	4	256	0.0156	30	c.226 others(49): Show c.2260+1313_2260+1314insGTATATATATATATATATATATATAT ATAT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2709232	G G	GTGTGTAT others(23): Show GTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp2 HG04199.hp1 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0168 a0001c0002t0001g0036 a0001c0002t0001g0168	2	254	0.0079	30	c.226 others(49): Show c.2260+1313_2260+1314insGTGTATATATATATATATATATATAT ATAT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCO4_chr11_93473472_93548391	93535787	A A	AAGCAGCA others(23): Show AAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02165.hp2 HG02683.hp2 others(13): Show HG02135.hp1 HG02165.hp2 HG02683.hp2 HG04199.hp1 NA18941.hp1 NA18945.hp1 NA18954.hp1 NA18959.hp2 NA18969.hp1 NA18982.hp2 NA18997.hp2 NA19009.hp1 NA19070.hp1 NA19074.hp2 NA19080.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0004	a0001c0001t0001g0007 a0001c0001t0002g0030 a0001c0001t0002g0339 others(10): Show a0001c0001t0001g0007 a0001c0001t0002g0030 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0003g0006 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0002t0004g0059	16	383	0.0418	30	c.-15 others(49): Show c.-154+7488_-154+7489insGCTGCTGCTGCTGCTGCTGCTGCTGC TGCT	SMCO4	ENSG00000166002.7	transcript	ENST00000298966.7	protein_coding	1/2			chr11	TogoVar
SMG6_chr17_2054843_2308785	2114906	A A	AAAAATAA others(23): Show AAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02895.hp1 HG01891.hp1 HG02895.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0012 a0004c0004t0001 a0004c0004t0012	a0004c0004t0001g0011 a0004c0004t0012g0059 a0004c0004t0001g0011 a0004c0004t0012g0059	2	264	0.0076	30	c.335 others(51): Show c.3358-29035_3358-29006dupATTTTATTTTATTTTATTTTATTT TATTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2130266	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03225.hp2 NA19066.hp2 HG03130.hp2 HG03225.hp2 NA19066.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0007c0007 a0002c0002 a0007c0007	a0002c0002t0002 a0007c0007t0001 a0007c0007t0002 a0002c0002t0002 a0007c0007t0001 a0007c0007t0002	a0002c0002t0002g0073 a0007c0007t0001g0025 a0007c0007t0002g0028 a0002c0002t0002g0073 a0007c0007t0001g0025 a0007c0007t0002g0028	3	89	0.0337	30	c.335 others(51): Show c.3357+42391_3357+42392insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2130270	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0014 a0007c0007t0014	a0007c0007t0014g0020 a0007c0007t0014g0020	1	276	0.0036	30	c.335 others(51): Show c.3357+42387_3357+42388insCTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG7_chr1_183467499_183559191	183477741	C C	CGTGTGTG others(23): Show CGTGTGTGCATATGTGTATATATGCATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02809.hp2 HG02970.hp2 others(4): Show HG02145.hp1 HG02809.hp2 HG02970.hp2 HG03516.hp1 NA18522.hp2 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007	a0001c0001t0003g0177 a0001c0001t0004g0175 a0001c0001t0004g0178 others(3): Show a0001c0001t0003g0177 a0001c0001t0004g0175 a0001c0001t0004g0178 a0001c0001t0007g0019 a0001c0001t0007g0174 a0001c0001t0007g0176	7	357	0.0196	30	c.29+ others(45): Show c.29+5092_29+5093insGTGTGTGCATATGTGTATATATGCATATAT	SMG7	ENSG00000116698.22	transcript	ENST00000688051.1	protein_coding	1/22			chr1	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(23): Show TATATATATATATATACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	73	0.0137	30	c.67 others(41): Show c.6765_*6766insGTGTGTGTGTGTGTGTATATATATATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(23): Show TATATATATATATATATATACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 NA19240.hp1 HG02486.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0018 a0001c0001t0003 a0001c0001t0018	a0001c0001t0003g0039 a0001c0001t0018g0086 a0001c0001t0003g0039 a0001c0001t0018g0086	2	74	0.0270	30	c.67 others(41): Show c.6765_*6766insGTGTGTGTGTGTATATATATATATATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(23): Show TATATATATATATATATATATACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02818.hp2 HG03516.hp2 HG02723.hp1 HG02818.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0079 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0079 a0001c0001t0003g0081 a0001c0001t0003g0082	3	75	0.0400	30	c.67 others(41): Show c.6765_*6766insGTGTGTGTGTATATATATATATATATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(23): Show TATATATATATATATATATATATACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0037 a0003c0005t0037	a0003c0005t0037g0084 a0003c0005t0037g0084	1	73	0.0137	30	c.67 others(41): Show c.6765_*6766insGTGTGTGTATATATATATATATATATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(23): Show TATATATATATATATATATATATATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 NA18965.hp1 NA18982.hp1 others(1): Show HG00621.hp1 NA18965.hp1 NA18982.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0002 a0001c0001t0017	a0001c0001t0002g0053 a0001c0001t0002g0069 a0001c0001t0017g0034 others(1): Show a0001c0001t0002g0053 a0001c0001t0002g0069 a0001c0001t0017g0034 a0001c0001t0017g0057	4	76	0.0526	30	c.67 others(41): Show c.6765_*6766insGTGTGTATATATATATATATATATATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMIM14_chr4_39541336_39643865	39584481	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0278 a0001c0001t0004g0278	1	36	0.0278	30	c.76- others(47): Show c.76-12019_76-12018insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM17_chr19_56638159_56662247	56658693	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG02486.hp1 HG03041.hp1 others(1): Show HG01123.hp2 HG02486.hp1 HG03041.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0010 a0001c0001t0006 a0001c0001t0010	a0001c0001t0006g0033 a0001c0001t0006g0070 a0001c0001t0010g0021 a0001c0001t0006g0033 a0001c0001t0006g0070 a0001c0001t0010g0021	4	276	0.0145	30	c.34 others(41): Show c.3480_*3481insAAAAAAAAAAAAAAAAAAAAAAAAAAGAAG	SMIM17	ENSG00000268182.6	transcript	ENST00000598409.6	protein_coding		1447		chr19	TogoVar
SMIM2_chr13_44138150_44166257	44142132	C C	CCTCGGCT others(23): Show CCTCGGCTCGGCTCGGCTCGGCTCGGCTCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 NA18906.hp1 NA18985.hp1 others(1): Show HG01496.hp2 NA18906.hp1 NA18985.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0065 a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0065	4	5	0.8000	30	c.17 others(41): Show c.1785_*1786insCCGAGCCGAGCCGAGCCGAGCCGAGCCGAG	SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding		1017		chr13	TogoVar
SMIM31_chr4_164749131_164808795	164755534	A A	AGGAGGGG others(23): Show AGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02165.hp2 NA19082.hp2 HG02071.hp2 HG02165.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0247 a0001c0001t0001g0268 a0001c0001t0003g0246 a0001c0001t0001g0247 a0001c0001t0001g0268 a0001c0001t0003g0246	3	332	0.0090	30	c.-26 others(47): Show c.-26+1127_-26+1128insGGGAGGGGAGGGGAGGGGAGGGGAGGGG AG	SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMIM31_chr4_164749131_164808795	164755539	A A	AGGAGGGG others(23): Show AGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA19012.hp1 HG00280.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0356 a0001c0001t0004g0330 a0001c0001t0002g0356 a0001c0001t0004g0330	2	17	0.1176	30	c.-26 others(47): Show c.-26+1145_-26+1174dupGAGGGGAGGGGAGGGGAGGGGAGGGGAG GG	SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMIM45_chr22_41947150_41963939	41958483	G G	GGAGAGAG others(23): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0078 a0001c0001t0022g0078	1	180	0.0056	30	c.61 others(39): Show c.616_*617insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	SMIM45	ENSG00000205704.9	transcript	ENST00000381348.5	protein_coding	2/2	617	INFO_REALIGN_3_PRIME	chr22	TogoVar
SMIM46_chr19_14107324_14117476	14109999	T T	TATATATA others(23): Show TATATATATATACATACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG03041.hp2 HG02897.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	234	0.0085	30	c.23 others(41): Show c.2324_*2325insGTGTGTGTGTGTGTGTATGTATATATATAT	SMIM46	ENSG00000289762.1	transcript	ENST00000699221.1	protein_coding		2324		chr19	TogoVar
SMN1_chr5_70920087_70958015	70936151	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	5	0.2000	30	c.82- others(45): Show c.82-2672_82-2671insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SMN1	ENSG00000172062.17	transcript	ENST00000380707.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SMOC1_chr14_69874416_70037366	69875963	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0019	1	73	0.0137	30	c.-37 others(41): Show c.-3716_-3715insATATATATATATATATATATATATATATAT	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding		3452		chr14	TogoVar
SMOC2_chr6_168436184_168672992	168538264	C C	CAGTGGGG others(23): Show CAGTGGGGTGACCCCTGCTGGAATGTGGGGG	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	176	0.0057	30	c.464 others(47): Show c.464-5318_464-5289dupCCTGCTGGAATGTGGGGGAGTGGGGTGA CC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168538477	C C	CGGTGACC others(23): Show CGGTGACCGCTGCTGGAATGTGGGGGAGTGG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0049 a0001c0004t0005g0049	1	176	0.0057	30	c.464 others(47): Show c.464-5080_464-5051dupGCTGCTGGAATGTGGGGGAGTGGGGTGA CC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168614116	A A	AGCCTCTT others(23): Show AGCCTCTTCACACCTACAGCCAGCACAGGGG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	171	0.0058	30	c.907 others(47): Show c.907+5935_907+5964dupGGGGCCTCTTCACACCTACAGCCAGCAC AG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168615632	A A	AGGGCCTC others(23): Show AGGGCCTCTTCACACCTACAGCCAGCACAGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00741.hp2 others(31): Show HG00280.hp2 HG00423.hp2 HG00741.hp2 HG01069.hp2 HG01081.hp1 HG01256.hp1 HG01346.hp1 HG01346.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02004.hp1 HG02074.hp1 HG02135.hp1 HG02135.hp2 HG02293.hp2 HG02735.hp2 HG02738.hp2 HG02922.hp2 HG03209.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03654.hp1 HG04184.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18941.hp1 NA18951.hp1 NA18960.hp2 NA19065.hp2 NA19088.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0010 others(1): Show a0001c0001 a0001c0002 a0002c0010 a0003c0009	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0002t0008 a0001c0002t0014 a0002c0010t0001 a0003c0009t0003	a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0088 others(31): Show a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0001g0164 a0001c0001t0001g0175 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0012 a0001c0002t0002g0026 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0065 a0001c0002t0002g0068 a0001c0002t0008g0047 a0001c0002t0014g0005 a0002c0010t0001g0130 a0003c0009t0003g0086	34	131	0.2595	30	c.907 others(47): Show c.907+7404_907+7405insCACCTACAGCCAGCACAGGGGGCCTCTT CA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMPD2_chr6_109435724_109448919	109448097	G G	GACACACA others(23): Show GACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00621.hp2 HG01070.hp2 others(14): Show HG00280.hp2 HG00621.hp2 HG01070.hp2 HG01106.hp1 HG01123.hp2 HG01515.hp2 HG01517.hp2 HG02074.hp2 HG02145.hp1 HG02257.hp1 HG04199.hp1 NA18952.hp2 NA19000.hp2 NA19003.hp2 NA19043.hp2 NA19079.hp2 NA20905.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0003c0003 a0004c0005 a0001c0002 a0003c0003 a0004c0005	a0001c0002t0001 a0001c0002t0002 a0003c0003t0002 others(2): Show a0001c0002t0001 a0001c0002t0002 a0003c0003t0002 a0003c0003t0006 a0004c0005t0001	a0001c0002t0001g0003 a0001c0002t0002g0002 a0003c0003t0002g0001 others(2): Show a0001c0002t0001g0003 a0001c0002t0002g0002 a0003c0003t0002g0001 a0003c0003t0006g0001 a0004c0005t0001g0003	17	191	0.0890	30	c.41 others(41): Show c.4192_*4193insACACACACACACACACACACACACACACAC	SMPD2	ENSG00000135587.9	transcript	ENST00000258052.8	protein_coding		4179		chr6	TogoVar
SMS_chrX_21935709_21999837	21944544	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	247	0.0040	30	c.49+ others(45): Show c.49+3672_49+3673insAAAAAAAAAAAAAAAAAAAAAAAGAAAAGA	SMS	ENSG00000102172.16	transcript	ENST00000404933.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SMTN_chr22_31076318_31109624	31107583	G G	GCCCCGCC others(23): Show GCCCCGCCCCCGCCCCCGCCCCCGCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG03540.hp1 HG02129.hp1 HG03540.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0003 a0001c0001t0001 a0003c0003t0003	a0001c0001t0001g0030 a0003c0003t0003g0175 a0001c0001t0001g0030 a0003c0003t0003g0175	2	181	0.0110	30	c.32 others(41): Show c.3288_*3289insCCCCGCCCCCGCCCCCGCCCCCGCCCCCGC	SMTN	ENSG00000183963.19	transcript	ENST00000333137.12	protein_coding		2960		chr22	TogoVar
SMURF2_chr17_64537282_64667307	64566561	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	42	0.0238	30	c.101 others(49): Show c.1017-3625_1017-3596dupAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	10/18			chr17	TogoVar
SMURF2_chr17_64537282_64667307	64605744	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA18956.hp2 HG01496.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0122 a0001c0001t0002g0115 a0001c0001t0002g0122	2	39	0.0513	30	c.91+ others(43): Show c.91+828_91+857dupATATATATATATATATATATATATATATAT	SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	2/18			chr17	TogoVar
SMURF2_chr17_64537282_64667307	64665973	T T	TTTTTATT others(23): Show TTTTTATTTTATTTTATTTTATTTTATTTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0174 a0001c0001t0032g0174	1	39	0.0256	30	c.-40 others(41): Show c.-4094_-4093insTAAAATAAAATAAAATAAAATAAAATAAAA	SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding		3667		chr17	TogoVar
SMYD1_chr2_88062825_88118384	88065219	T T	TCCCCTCC others(23): Show TCCCCTCCCCTCCCCCCCTCCCCTCCCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0117 a0001c0005t0002g0117	1	307	0.0033	30	c.-26 others(41): Show c.-2646_-2645insCCCCTCCCCTCCCCCCCTCCCCTCCCCTCC	SMYD1	ENSG00000115593.15	transcript	ENST00000419482.7	protein_coding		2605		chr2	TogoVar
SMYD2_chr1_214276159_214342131	214299465	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02056.hp1 HG03490.hp1 others(1): Show HG00140.hp2 HG02056.hp1 HG03490.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0249 a0001c0001t0001g0250 others(1): Show a0001c0001t0001g0223 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0259	4	235	0.0170	30	c.174 others(47): Show c.174-5704_174-5703insTATATATATATATATATATATATATATA TA	SMYD2	ENSG00000143499.14	transcript	ENST00000366957.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMYD3_chr1_245744347_246512279	245921549	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	10	0.1000	30	c.703 others(47): Show c.703-5910_703-5909insTATATATATATATATATATATATATATA TA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	7/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246325049	A A	AGGAAGGA others(23): Show AGGAAGGAGGGAGAAGGAGTCGGGGGGGCCG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	85	0.0118	30	c.531 others(47): Show c.531+2151_531+2152insCGGCCCCCCCGACTCCTTCTCCCTCCTT CC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246348077	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG04115.hp1 HG01243.hp2 HG04115.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0002 a0001c0002t0001 a0002c0003t0002	a0001c0002t0001g0036 a0002c0003t0002g0124 a0001c0002t0001g0036 a0002c0003t0002g0124	2	50	0.0400	30	c.228 others(47): Show c.228+6953_228+6954insGTATATATATATATATATATATATATAT AT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	2/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246481593	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0136 a0002c0003t0001g0136	1	122	0.0082	30	c.164 others(49): Show c.164+25460_164+25461insATATATATATATATATATATATATAT ATAT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246481607	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0070	1	75	0.0133	30	c.164 others(49): Show c.164+25446_164+25447insGTGTATATATATATATATATATATAT ATAT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246481607	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01109.hp2 HG01934.hp1 others(6): Show HG00140.hp2 HG01109.hp2 HG01934.hp1 HG01952.hp2 HG02004.hp2 HG02027.hp2 HG02071.hp1 NA18965.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0012t0002	a0001c0001t0001g0023 a0001c0001t0001g0044 a0001c0001t0001g0058 others(6): Show a0001c0001t0001g0023 a0001c0001t0001g0044 a0001c0001t0001g0058 a0001c0001t0002g0020 a0001c0002t0001g0025 a0001c0002t0001g0027 a0001c0002t0002g0024 a0001c0002t0002g0061 a0001c0012t0002g0057	9	83	0.1084	30	c.164 others(49): Show c.164+25446_164+25447insGTATATATATATATATATATATATAT ATAT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246481621	T T	TATATATA others(23): Show TATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	106	0.0094	30	c.164 others(49): Show c.164+25432_164+25433insGTGTGTGTATATATATATATATATAT ATAT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD4_chr17_1774485_1834902	1794105	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0016 a0016	a0016c0017 a0016c0017	a0016c0017t0002 a0016c0017t0002	a0016c0017t0002g0339 a0016c0017t0002g0339	1	79	0.0127	30	c.153 others(49): Show c.1537+5751_1537+5752insAAAAAATATATATATATATATATATA TATA	SMYD4	ENSG00000186532.12	transcript	ENST00000305513.12	protein_coding	5/10			chr17	TogoVar

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