Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SMAD3_chr15_67060602_67200169	67160770	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG00741.hp1 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0003 a0001c0002t0004	a0001c0002t0003g0104 a0001c0002t0004g0257 a0001c0002t0003g0104 a0001c0002t0004g0257	2	310	0.0065	19	c.207 others(36): Show c.207-4101_207-4083dupAAAAAAAAAAAAAAAAAAA	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD3_chr15_67060602_67200169	67177422	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02622.hp2 HG02896.hp2 others(1): Show HG02109.hp2 HG02622.hp2 HG02896.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016	a0001c0001t0007g0101 a0001c0001t0008g0053 a0001c0001t0008g0064 others(1): Show a0001c0001t0007g0101 a0001c0001t0008g0053 a0001c0001t0008g0064 a0001c0001t0016g0195	4	310	0.0129	19	c.659 others(36): Show c.659-3806_659-3805insTTTTTTTTTTTTTTTTTTT	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD3_chr15_67060602_67200169	67182998	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0192 a0001c0001t0003g0192	1	310	0.0032	19	c.871 others(36): Show c.871+1545_871+1546insTATATATATATATATATAT	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	6/8			chr15	TogoVar
SMAD3_chr15_67060602_67200169	67183031	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18522.hp1 HG02886.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0224 a0001c0001t0007g0280 a0001c0001t0002g0224 a0001c0001t0007g0280	2	310	0.0065	19	c.871 others(36): Show c.871+1579_871+1580insATATATATATATATATATT	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD3_chr15_67060602_67200169	67183032	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03704.hp1 NA19004.hp2 HG03486.hp2 HG03704.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0008 a0001c0002t0015 a0001c0001t0007 a0001c0001t0008 a0001c0002t0015	a0001c0001t0007g0244 a0001c0001t0008g0050 a0001c0002t0015g0031 a0001c0001t0007g0244 a0001c0001t0008g0050 a0001c0002t0015g0031	3	310	0.0097	19	c.871 others(36): Show c.871+1579_871+1580insATATATATATATATATATA	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	6/8			chr15	TogoVar
SMAD4_chr18_51025213_51090042	51088069	T T	TTGAAATA others(12): Show TTGAAATACCAAAAATATCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0285 a0001c0001t0011g0285	1	302	0.0033	19	c.96 others(30): Show c.9602_*9603insTGAAATACCAAAAATATCA	SMAD4	ENSG00000141646.16	transcript	ENST00000342988.8	protein_coding		3028		chr18	TogoVar
SMAP1_chr6_70662883_70867003	70725093	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	306	0.0033	19	c.119 others(36): Show c.119-7262_119-7244dupTTTTTTTTTTTTTTTTTTT	SMAP1	ENSG00000112305.15	transcript	ENST00000370455.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMARCA2_chr9_2010347_2198620	2176182	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02895.hp1 HG00639.hp2 HG02895.hp1	a0001 a0012 a0001 a0012	a0001c0003 a0012c0063 a0001c0003 a0012c0063	a0001c0003t0002 a0012c0063t0006 a0001c0003t0002 a0012c0063t0006	a0001c0003t0002g0271 a0012c0063t0006g0280 a0001c0003t0002g0271 a0012c0063t0006g0280	2	316	0.0063	19	c.425 others(38): Show c.4254-5386_4254-5368dupTTTTTTTTTTTTTTTTTTT	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	29/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA4_chr19_10956030_11067273	11064669	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG03704.hp1 HG03942.hp1 others(3): Show HG02647.hp1 HG03704.hp1 HG03942.hp1 NA18940.hp2 NA18985.hp1 NA19007.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0011 others(1): Show a0001c0003 a0001c0004 a0001c0011 a0001c0032	a0001c0003t0001 a0001c0004t0001 a0001c0011t0001 others(1): Show a0001c0003t0001 a0001c0004t0001 a0001c0011t0001 a0001c0032t0001	a0001c0003t0001g0223 a0001c0003t0001g0246 a0001c0003t0001g0253 others(3): Show a0001c0003t0001g0223 a0001c0003t0001g0246 a0001c0003t0001g0253 a0001c0004t0001g0140 a0001c0011t0001g0277 a0001c0032t0001g0231	6	286	0.0210	19	c.28 others(30): Show c.2853_*2854insTTTTTTTTTTTTTTTTTTT	SMARCA4	ENSG00000127616.22	transcript	ENST00000344626.10	protein_coding		2397		chr19	TogoVar
SMARCAD1_chr4_94202865_94296292	94275796	C C	CTTTTATT others(12): Show CTTTTATTTTATTTTATTTA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG04115.hp2 others(1): Show HG03490.hp2 HG03492.hp2 HG04115.hp2 HG04204.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0022 a0001c0004t0001g0047 a0001c0004t0001g0061 others(1): Show a0001c0004t0001g0022 a0001c0004t0001g0047 a0001c0004t0001g0061 a0001c0004t0001g0071	4	322	0.0124	19	c.180 others(36): Show c.1809-539_1809-538insATTTTATTTTATTTATTTT	SMARCAD1	ENSG00000163104.18	transcript	ENST00000354268.9	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMARCAD1_chr4_94202865_94296292	94275796	C C	CTTTTATT others(12): Show CTTTTATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01074.hp2 HG01109.hp1 others(39): Show HG00609.hp1 HG01074.hp2 HG01109.hp1 HG01243.hp2 HG01496.hp1 HG01952.hp1 HG01975.hp1 HG01993.hp2 HG02040.hp1 HG02080.hp1 HG02083.hp1 HG02132.hp2 HG02647.hp2 HG02723.hp2 HG03942.hp2 NA18906.hp1 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18948.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18962.hp2 NA18966.hp2 NA18970.hp1 NA18975.hp1 NA18978.hp1 NA18979.hp2 NA18984.hp2 NA18988.hp1 NA18991.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19058.hp1 NA19064.hp1 NA19066.hp1 NA19074.hp1 NA19075.hp1 NA19091.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0004 a0001c0004t0005 others(1): Show a0001c0004t0001 a0001c0004t0004 a0001c0004t0005 a0001c0004t0012	a0001c0004t0001g0001 a0001c0004t0001g0003 a0001c0004t0001g0008 others(33): Show a0001c0004t0001g0001 a0001c0004t0001g0003 a0001c0004t0001g0008 a0001c0004t0001g0023 a0001c0004t0001g0025 a0001c0004t0001g0032 a0001c0004t0001g0033 a0001c0004t0001g0036 a0001c0004t0001g0037 a0001c0004t0001g0039 a0001c0004t0001g0044 a0001c0004t0001g0046 a0001c0004t0001g0050 a0001c0004t0001g0053 a0001c0004t0001g0054 a0001c0004t0001g0055 a0001c0004t0001g0057 a0001c0004t0001g0058 a0001c0004t0001g0059 a0001c0004t0001g0062 a0001c0004t0001g0063 a0001c0004t0001g0064 a0001c0004t0001g0065 a0001c0004t0001g0073 a0001c0004t0001g0117 a0001c0004t0001g0118 a0001c0004t0001g0121 a0001c0004t0001g0136 a0001c0004t0001g0138 a0001c0004t0004g0038 a0001c0004t0004g0045 a0001c0004t0004g0051 a0001c0004t0004g0052 a0001c0004t0005g0001 a0001c0004t0005g0056 a0001c0004t0012g0060	42	322	0.1304	19	c.180 others(36): Show c.1809-539_1809-538insATTTTATTTTATTTTTTTT	SMARCAD1	ENSG00000163104.18	transcript	ENST00000354268.9	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMARCAD1_chr4_94202865_94296292	94275797	T T	TTTTATTT others(12): Show TTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00423.hp1 others(95): Show HG00099.hp2 HG00140.hp1 HG00423.hp1 HG00438.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00735.hp2 HG00738.hp1 HG01074.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01256.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01952.hp2 HG01975.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp2 HG02300.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp2 HG02735.hp1 HG02895.hp1 HG03041.hp1 HG03195.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03688.hp2 HG03834.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18945.hp2 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18961.hp2 NA18965.hp2 NA18970.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp2 NA18992.hp2 NA18995.hp1 NA19003.hp1 NA19004.hp1 NA19009.hp2 NA19057.hp2 NA19058.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19070.hp2 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19081.hp2 NA19084.hp1 NA19089.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0004 a0001c0006 others(2): Show a0001c0001 a0001c0004 a0001c0006 a0001c0009 a0006c0008	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0004t0001 a0001c0006t0001 a0001c0009t0013 a0006c0008t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(90): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0048 a0001c0001t0001g0066 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0006g0005 a0001c0001t0006g0020 a0001c0001t0006g0082 a0001c0001t0010g0004 a0001c0004t0001g0024 a0001c0004t0001g0040 a0001c0004t0001g0043 a0001c0004t0001g0049 a0001c0004t0001g0068 a0001c0004t0001g0069 a0001c0004t0001g0070 a0001c0004t0001g0106 a0001c0004t0001g0137 a0001c0004t0001g0139 a0001c0004t0001g0150 a0001c0006t0001g0089 a0001c0006t0001g0104 a0001c0009t0013g0092 a0006c0008t0001g0067	98	322	0.3044	19	c.180 others(36): Show c.1809-539_1809-538insATTTTATTTTATTTTATTT	SMARCAD1	ENSG00000163104.18	transcript	ENST00000354268.9	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMARCAD1_chr4_94202865_94296292	94275797	T T	TTTTCTTT others(12): Show TTTTCTTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	322	0.0031	19	c.180 others(36): Show c.1809-539_1809-538insCTTTTATTTTATTTTATTT	SMARCAD1	ENSG00000163104.18	transcript	ENST00000354268.9	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMARCAD1_chr4_94202865_94296292	94275799	T T	TTATTTTA others(12): Show TTATTTTATTTTATTTTTTA	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0107 a0001c0004t0001g0107	1	322	0.0031	19	c.180 others(36): Show c.1809-539_1809-538insATTTTATTTTATTTTTTAT	SMARCAD1	ENSG00000163104.18	transcript	ENST00000354268.9	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMARCAD1_chr4_94202865_94296292	94284353	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0143 a0002c0005t0003g0143	1	322	0.0031	19	c.291 others(36): Show c.2910-607_2910-606insAAAAAAAAAAAAAAAAAAG	SMARCAD1	ENSG00000163104.18	transcript	ENST00000354268.9	protein_coding	22/23			chr4	TogoVar
SMARCC1_chr3_47580269_47786893	47671173	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02083.hp2 HG01081.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0004t0001 a0001c0001t0003 a0001c0004t0001	a0001c0001t0003g0027 a0001c0004t0001g0065 a0001c0001t0003g0027 a0001c0004t0001g0065	2	219	0.0091	19	c.184 others(36): Show c.1840-475_1840-457dupTTTTTTTTTTTTTTTTTTT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	18/27			chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47671197	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	219	0.0046	19	c.184 others(36): Show c.1840-481_1840-480insGTTTTTTTTTTTTTTTTTT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	18/27			chr3	TogoVar
SMC1A_chrX_53369149_53427654	53402868	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03540.hp1 HG03225.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0106 a0001c0001t0001g0113	2	213	0.0094	19	c.242 others(36): Show c.2420+697_2420+698insTTTTTTTTTTTTTTTTTTT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	15/24			chrX	TogoVar
SMC1A_chrX_53369149_53427654	53410926	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01515.hp1 HG01943.hp1 others(23): Show HG00099.hp1 HG01515.hp1 HG01943.hp1 HG01952.hp1 HG02056.hp1 HG02083.hp1 HG02132.hp1 HG02135.hp1 HG02257.hp2 HG02280.hp1 HG02559.hp1 HG02622.hp2 HG02647.hp1 HG03098.hp1 HG03490.hp1 HG03942.hp1 HG04199.hp1 NA18747.hp1 NA18960.hp1 NA18961.hp1 NA18983.hp1 NA19009.hp1 NA19060.hp1 NA19068.hp1 NA19085.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0020 a0001c0001t0022 a0001c0003t0011	a0001c0001t0001g0032 a0001c0001t0001g0057 a0001c0001t0001g0058 others(22): Show a0001c0001t0001g0032 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0118 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0002g0005 a0001c0001t0002g0155 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0194 a0001c0001t0007g0010 a0001c0001t0020g0150 a0001c0001t0022g0151 a0001c0003t0011g0142	26	213	0.1221	19	c.125 others(36): Show c.1254+816_1254+834dupTTTTTTTTTTTTTTTTTTT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	7/24			chrX	TogoVar
SMC1B_chr22_45339063_45418599	45353893	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG03704.hp2 HG03710.hp2 others(1): Show HG01070.hp2 HG03704.hp2 HG03710.hp2 NA18951.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0070 a0002c0001t0002g0099 a0002c0001t0002g0108 others(1): Show a0002c0001t0002g0070 a0002c0001t0002g0099 a0002c0001t0002g0108 a0002c0001t0002g0133	4	360	0.0111	19	c.327 others(34): Show c.3273+66_3273+84dupTTTTTTTTTTTTTTTTTTT	SMC1B	ENSG00000077935.17	transcript	ENST00000357450.9	protein_coding	21/24			chr22	TogoVar
SMC3_chr10_110562695_110611048	110607292	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01168.hp2 HG01361.hp1 others(21): Show HG00639.hp2 HG01168.hp2 HG01361.hp1 HG01975.hp2 HG02129.hp1 HG02717.hp1 HG02976.hp2 NA18612.hp2 NA18906.hp2 NA18940.hp1 NA18966.hp1 NA18970.hp1 NA18981.hp2 NA18984.hp2 NA18992.hp2 NA18994.hp1 NA19002.hp1 NA19003.hp2 NA19005.hp2 NA19011.hp2 NA19055.hp1 NA19074.hp1 NA19082.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0011 others(17): Show a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0039 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0120 a0001c0001t0002g0123 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0140 a0001c0001t0002g0153 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0005g0186	24	328	0.0732	19	c.29 others(30): Show c.2990_*2991insAAAAAAAAAAAAAAAAAAA	SMC3	ENSG00000108055.11	transcript	ENST00000361804.5	protein_coding		1245		chr10	TogoVar
SMCHD1_chr18_2650726_2810017	2679480	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA19007.hp1 NA18973.hp2 NA19007.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0003 a0001c0004 a0003c0003	a0001c0004t0005 a0003c0003t0005 a0001c0004t0005 a0003c0003t0005	a0001c0004t0005g0122 a0003c0003t0005g0121 a0001c0004t0005g0122 a0003c0003t0005g0121	2	340	0.0059	19	c.638 others(36): Show c.638+5336_638+5354dupAAAAAAAAAAAAAAAAAAA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	5/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2708907	T T	TATATATA others(12): Show TATATATATATATATATAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03486.hp2 HG02615.hp2 HG03486.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0031 a0001c0005t0009g0245 a0001c0005t0009g0031 a0001c0005t0009g0245	2	340	0.0059	19	c.226 others(36): Show c.2260+988_2260+989insTATATATATATATATAAAA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2765996	G G	GTTTTCTT others(12): Show GTTTTCTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(50): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01081.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01255.hp2 HG01258.hp2 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG02055.hp2 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02559.hp2 HG02683.hp1 HG02735.hp1 HG02738.hp1 HG03041.hp2 HG03239.hp2 HG03491.hp2 HG03516.hp1 HG03710.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp2 NA18951.hp1 NA18952.hp2 NA18962.hp2 NA18972.hp2 NA18974.hp2 NA19003.hp1 NA19012.hp1 NA19043.hp1 NA19058.hp1 NA19062.hp2 NA19066.hp1 NA19081.hp1 NA20129.hp1	a0001 a0010 a0001 a0010	a0001c0002 a0001c0004 a0001c0012 others(1): Show a0001c0002 a0001c0004 a0001c0012 a0010c0025	a0001c0002t0001 a0001c0002t0003 a0001c0002t0015 others(6): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0015 a0001c0002t0018 a0001c0002t0036 a0001c0002t0037 a0001c0004t0001 a0001c0012t0003 a0010c0025t0022	a0001c0002t0001g0176 a0001c0002t0001g0178 a0001c0002t0001g0179 others(50): Show a0001c0002t0001g0176 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0208 a0001c0002t0003g0013 a0001c0002t0003g0014 a0001c0002t0003g0015 a0001c0002t0003g0016 a0001c0002t0003g0017 a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0160 a0001c0002t0003g0161 a0001c0002t0003g0162 a0001c0002t0003g0164 a0001c0002t0003g0165 a0001c0002t0003g0166 a0001c0002t0003g0167 a0001c0002t0003g0168 a0001c0002t0003g0169 a0001c0002t0003g0170 a0001c0002t0003g0172 a0001c0002t0003g0173 a0001c0002t0003g0174 a0001c0002t0003g0177 a0001c0002t0003g0184 a0001c0002t0003g0185 a0001c0002t0003g0186 a0001c0002t0003g0190 a0001c0002t0003g0197 a0001c0002t0003g0199 a0001c0002t0003g0200 a0001c0002t0003g0201 a0001c0002t0003g0202 a0001c0002t0003g0205 a0001c0002t0015g0191 a0001c0002t0018g0187 a0001c0002t0018g0204 a0001c0002t0018g0207 a0001c0002t0036g0206 a0001c0002t0037g0198 a0001c0004t0001g0182 a0001c0004t0001g0189 a0001c0012t0003g0254 a0001c0012t0003g0272 a0010c0025t0022g0203	53	340	0.1559	19	c.471 others(38): Show c.4719+2221_4719+2222insTTTTTTTTTCTTTTTTTTT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	37/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2793656	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0066 a0002c0006t0002g0066	1	340	0.0029	19	c.572 others(38): Show c.5720-2278_5720-2277insAAAAAAAAAAAAAAAAAAA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	45/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMG1_chr16_18799860_18931408	18887516	C C	CTTTGTTT others(12): Show CTTTGTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0003 a0001c0025t0003	a0001c0025t0003g0193 a0001c0025t0003g0193	1	300	0.0033	19	c.823 others(36): Show c.823-1851_823-1850insAAAAAAAAAAAAAAACAAA	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	6/62			chr16	TogoVar
SMG5_chr1_156244224_156287825	156271668	G G	GGTTCAAG others(12): Show GGTTCAAGTGATTCTCCTGC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG00558.hp2 others(88): Show HG00280.hp2 HG00544.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01074.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01261.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01928.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02132.hp1 HG02258.hp1 HG02273.hp2 HG02300.hp1 HG02451.hp2 HG02523.hp2 HG02615.hp1 HG02630.hp1 HG02970.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03492.hp2 HG03704.hp2 HG03831.hp2 HG03927.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18906.hp1 NA18939.hp1 NA18943.hp1 NA18944.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18970.hp1 NA18972.hp1 NA18975.hp2 NA18979.hp1 NA18984.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp2 NA19005.hp1 NA19007.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19058.hp2 NA19063.hp1 NA19064.hp1 NA19074.hp1 NA19079.hp1 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19091.hp2 NA20805.hp2 NA21309.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0014 others(1): Show a0001c0001 a0001c0002 a0003c0014 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0003c0014t0013 a0004c0013t0001	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0011 others(79): Show a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0002g0184 a0001c0001t0002g0194 a0001c0001t0004g0309 a0001c0001t0004g0310 a0001c0001t0004g0311 a0001c0001t0004g0312 a0001c0001t0004g0313 a0001c0002t0001g0073 a0001c0002t0001g0074 a0003c0014t0013g0198 a0004c0013t0001g0231	91	368	0.2473	19	c.713 others(34): Show c.713+633_713+651dupGCAGGAGAATCACTTGAAC	SMG5	ENSG00000198952.8	transcript	ENST00000361813.5	protein_coding	7/21			chr1	TogoVar
SMG6_chr17_2054843_2308785	2130266	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01934.hp1 HG02129.hp2 others(13): Show HG01167.hp2 HG01934.hp1 HG02129.hp2 HG02135.hp1 HG02602.hp2 HG02647.hp2 HG02895.hp1 HG02895.hp2 HG03041.hp1 HG03942.hp1 NA18522.hp1 NA18942.hp2 NA18960.hp1 NA18966.hp1 NA18995.hp2 NA19062.hp2	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0007 a0013	a0002c0002 a0002c0034 a0003c0003 others(3): Show a0002c0002 a0002c0034 a0003c0003 a0004c0004 a0007c0007 a0013c0017	a0002c0002t0001 a0002c0002t0002 a0002c0034t0001 others(7): Show a0002c0002t0001 a0002c0002t0002 a0002c0034t0001 a0003c0003t0001 a0003c0003t0002 a0004c0004t0001 a0004c0004t0004 a0004c0004t0012 a0007c0007t0001 a0013c0017t0001	a0002c0002t0001g0043 a0002c0002t0001g0045 a0002c0002t0001g0076 others(13): Show a0002c0002t0001g0043 a0002c0002t0001g0045 a0002c0002t0001g0076 a0002c0002t0002g0083 a0002c0002t0002g0088 a0002c0002t0002g0096 a0002c0034t0001g0099 a0003c0003t0001g0161 a0003c0003t0002g0163 a0004c0004t0001g0032 a0004c0004t0001g0057 a0004c0004t0004g0091 a0004c0004t0004g0093 a0004c0004t0012g0058 a0007c0007t0001g0013 a0013c0017t0001g0225	16	278	0.0576	19	c.335 others(40): Show c.3357+42391_3357+42392insTTTTTTTTTTTTTTTTTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2230186	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0091 a0004c0004t0004g0091	1	278	0.0036	19	c.286 others(38): Show c.2869+6287_2869+6305dupTTTTTTTTTTTTTTTTTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	10/18			chr17	TogoVar
SMG9_chr19_43722983_43759962	43734142	C C	CTTCCCAA others(12): Show CTTCCCAATTCCACTCCTCA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	320	0.0031	19	c.110 others(36): Show c.1102+246_1102+247insTGAGGAGTGGAATTGGGAA	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding	10/13			chr19	TogoVar
SMG9_chr19_43722983_43759962	43752902	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0045 a0001c0002t0045	a0001c0002t0045g0095 a0001c0002t0045g0095	1	320	0.0031	19	c.-7+ others(34): Show c.-7+1751_-7+1752insTTTTTTTTTTTTTTTTTTT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding	1/13			chr19	TogoVar
SMIM14_chr4_39541336_39643865	39576685	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03834.hp1 NA19240.hp2 HG01175.hp2 HG03834.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0040 a0001c0001t0002 a0001c0001t0014 a0001c0001t0040	a0001c0001t0002g0279 a0001c0001t0014g0026 a0001c0001t0040g0082 a0001c0001t0002g0279 a0001c0001t0014g0026 a0001c0001t0040g0082	3	344	0.0087	19	c.76- others(34): Show c.76-4223_76-4222insTATATATATATATATATAT	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM14_chr4_39541336_39643865	39584481	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18972.hp2 NA18985.hp2 others(1): Show HG03471.hp2 NA18972.hp2 NA18985.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 a0001c0001t0045	a0001c0001t0001g0215 a0001c0001t0005g0204 a0001c0001t0011g0230 others(1): Show a0001c0001t0001g0215 a0001c0001t0005g0204 a0001c0001t0011g0230 a0001c0001t0045g0319	4	344	0.0116	19	c.76- others(36): Show c.76-12037_76-12019dupTTTTTTTTTTTTTTTTTTT	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM31_chr4_164749131_164808795	164758801	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02818.hp2 HG00609.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0137 a0001c0001t0005g0093 a0001c0001t0001g0137 a0001c0001t0005g0093	2	364	0.0055	19	c.-26 others(36): Show c.-26+4412_-26+4430dupTTTTTTTTTTTTTTTTTTT	SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMIM35_chr11_117998634_118091963	118021047	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02723.hp1 HG03831.hp1 others(2): Show HG02145.hp1 HG02723.hp1 HG03831.hp1 NA19030.hp1 NA19067.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0011 a0002c0002t0007 a0002c0002t0011	a0002c0002t0007g0088 a0002c0002t0007g0214 a0002c0002t0007g0276 others(2): Show a0002c0002t0007g0088 a0002c0002t0007g0214 a0002c0002t0007g0276 a0002c0002t0007g0318 a0002c0002t0011g0403	5	408	0.0123	19	c.8-5 others(32): Show c.8-5239_8-5238insAAAAAAAAAAAAAAAAAAA	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM36_chr17_55444856_55516452	55501209	A A	ATATAATA others(12): Show ATATAATATATCTTATATTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18939.hp2 NA18985.hp2 HG00438.hp2 NA18939.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0038 a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0038	3	340	0.0088	19	c.17 others(38): Show c.174+9669_*174+9670insAAATATAAGATATATTATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM3_chr5_150773757_150801734	150777113	T T	TTTGCTGT others(12): Show TTTGCTGTAACAAAAGCTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	406	0.0025	19	c.-18 others(30): Show c.-1871_-1870insTTGCTGTAACAAAAGCTTG	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		1643		chr5	TogoVar
SMIM46_chr19_14107324_14117476	14109965	A A	ATATATAT others(12): Show ATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	368	0.0027	19	c.23 others(30): Show c.2358_*2359insATATATATATATATATATA	SMIM46	ENSG00000289762.1	transcript	ENST00000699221.1	protein_coding		2358		chr19	TogoVar
SMIM7_chr19_16641148_16665144	16662893	G G	GTTGTAAA others(12): Show GTTGTAAAATAGGCTTTGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	360	0.0028	19	c.-27 others(30): Show c.-2784_-2783insGCCAAAGCCTATTTTACAA	SMIM7	ENSG00000214046.9	transcript	ENST00000487416.7	protein_coding		2750		chr19	TogoVar
SMKR1_chr7_129497531_129517918	129515284	G G	GACAATAT others(12): Show GACAATATCCACCTAACCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	422	0.0024	19	c.28 others(30): Show c.2843_*2844insACAATATCCACCTAACCAT	SMKR1	ENSG00000240204.3	transcript	ENST00000462322.3	protein_coding		2367		chr7	TogoVar
SMO_chr7_129183633_129218545	129193779	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	410	0.0024	19	c.331 others(36): Show c.331+4297_331+4298insTATATATATATATATATAT	SMO	ENSG00000128602.11	transcript	ENST00000249373.8	protein_coding	1/11			chr7	TogoVar
SMO_chr7_129183633_129218545	129193781	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 NA18957.hp2 HG02004.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0272 a0001c0001t0001g0273	2	410	0.0049	19	c.331 others(36): Show c.331+4299_331+4300insTATATATATATATATATAT	SMO	ENSG00000128602.11	transcript	ENST00000249373.8	protein_coding	1/11			chr7	TogoVar
SMO_chr7_129183633_129218545	129193785	A A	AAATATAT others(12): Show AAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	410	0.0024	19	c.331 others(36): Show c.331+4304_331+4305insATATATATATATATATATA	SMO	ENSG00000128602.11	transcript	ENST00000249373.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
SMPD3_chr16_68353327_68453508	68402629	A A	AGCCCCGA others(12): Show AGCCCCGATGACCAACAGCG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03486.hp2 HG03579.hp2 HG02055.hp2 HG03486.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0006 a0001c0009t0006 a0001c0002t0006 a0001c0009t0006	a0001c0002t0006g0049 a0001c0002t0006g0051 a0001c0009t0006g0050 a0001c0002t0006g0049 a0001c0002t0006g0051 a0001c0009t0006g0050	3	208	0.0144	19	c.-26 others(40): Show c.-268-15989_-268-15971dupCGCTGTTGGTCATCGGGGC	SMPD3	ENSG00000103056.12	transcript	ENST00000219334.10	protein_coding	1/8			chr16	TogoVar
SMPDL3B_chr1_27930000_27964152	27933785	A A	AAAAAAAC others(12): Show AAAAAAACAAAAAAAAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01168.hp1 HG01169.hp1 others(1): Show HG01070.hp1 HG01168.hp1 HG01169.hp1 HG03491.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0009 a0001c0001 a0002c0009	a0001c0001t0003 a0002c0009t0002 a0001c0001t0003 a0002c0009t0002	a0001c0001t0003g0034 a0001c0001t0003g0066 a0002c0009t0002g0063 others(1): Show a0001c0001t0003g0034 a0001c0001t0003g0066 a0002c0009t0002g0063 a0002c0009t0002g0070	4	432	0.0093	19	c.-13 others(30): Show c.-1399_-1398insAAAAAACAAAAAAAAAAAC	SMPDL3B	ENSG00000130768.15	transcript	ENST00000373894.8	protein_coding		1214		chr1	TogoVar
SMPX_chrX_21700978_21763116	21731578	A A	ATATATAC others(12): Show ATATATACACATTATGTGTG	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02027.hp1 HG02004.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0131 a0001c0001t0001g0088 a0001c0001t0001g0131	2	289	0.0069	19	c.14 others(36): Show c.14+5970_*14+5971insCACACATAATGTGTATATA	SMPX	ENSG00000091482.8	transcript	ENST00000379494.4	protein_coding	4/4			chrX	TogoVar
SMS_chrX_21935709_21999837	21944539	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01516.hp2 HG02886.hp2 others(4): Show HG00735.hp2 HG01516.hp2 HG02886.hp2 NA18943.hp1 NA18947.hp1 NA18997.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0140 others(4): Show a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0140 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0074 a0001c0001t0004g0104	7	298	0.0235	19	c.49+ others(34): Show c.49+3672_49+3673insAAAAAAAAAAAAGAAAAAA	SMS	ENSG00000102172.16	transcript	ENST00000404933.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SMS_chrX_21935709_21999837	21944544	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	298	0.0034	19	c.49+ others(34): Show c.49+3672_49+3673insAAAAAAAAAAAAAAAAAGA	SMS	ENSG00000102172.16	transcript	ENST00000404933.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SMS_chrX_21935709_21999837	21988662	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01981.hp2 HG00642.hp1 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0242 a0001c0001t0007g0239 a0001c0001t0001g0242 a0001c0001t0007g0239	2	298	0.0067	19	c.945 others(36): Show c.945+3451_945+3469dupAAAAAAAAAAAAAAAAAAA	SMS	ENSG00000102172.16	transcript	ENST00000404933.7	protein_coding	9/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SMURF1_chr7_99022440_99149108	99077312	C C	CTTTTTTT others(12): Show CTTTTTTTTTATTTTTTTTA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0238 a0001c0001t0038g0238	1	264	0.0038	19	c.56- others(36): Show c.56-15494_56-15476dupTAAAAAAAATAAAAAAAAA	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17			chr7	TogoVar

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