Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SLC7A1_chr13_29504414_29600688	29559191	GGGGGAGA others(113): Show GGGGGAGAGAATGTGAGTGAGGGGGAGTGAATGTGAGTGACGGGGAGTGA ATGTGAGTGAGGGGGGAGAGAATGTGAGTGAGGGGGAGTGAATGTGAGTG AGGGGGAGAGAATGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0167 a0001c0002t0002g0167	1	330	0.0030	-120	c.-11 others(19): Show c.-114-5451_-114-5332del		SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12						chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559230	ACGGGGAG others(113): Show ACGGGGAGTGAATGTGAGTGAGGGGGGAGAGAATGTGAGTGAGGGGGAGT GAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAGAGAATGTGAGT GAGGGGGAGTGAATGTGAGTG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0006 a0001c0017t0006	a0001c0017t0006g0135 a0001c0017t0006g0135	1	330	0.0030	-120	c.-11 others(19): Show c.-114-5490_-114-5371del		SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12						chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559299	AGAATGTG others(113): Show AGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAGTGAATGTGAG TGAGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAG AGAATGTGAGTGAGGGGGAGT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00621.hp1 HG00733.hp2 others(39): Show HG00280.hp1 HG00621.hp1 HG00733.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01257.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG02004.hp1 HG02071.hp2 HG02129.hp2 HG02155.hp1 HG02280.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02886.hp1 HG03490.hp2 HG03492.hp1 HG03942.hp1 HG04199.hp1 NA18942.hp2 NA18948.hp1 NA18950.hp2 NA18962.hp2 NA18965.hp2 NA18966.hp2 NA18971.hp2 NA18985.hp1 NA18988.hp1 NA18990.hp2 NA18998.hp2 NA19001.hp2 NA19012.hp1 NA19054.hp1 NA19065.hp1 NA19084.hp2 NA19088.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0013 others(2): Show a0001c0001 a0001c0003 a0001c0013 a0001c0014 a0001c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0001t0021 a0001c0001t0048 a0001c0003t0005 a0001c0003t0010 a0001c0013t0006 a0001c0014t0004 a0001c0019t0007	a0001c0001t0001g0008 a0001c0001t0001g0066 a0001c0001t0001g0105 others(38): Show a0001c0001t0001g0008 a0001c0001t0001g0066 a0001c0001t0001g0105 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0242 a0001c0001t0001g0259 a0001c0001t0001g0274 a0001c0001t0003g0190 a0001c0001t0004g0243 a0001c0001t0004g0272 a0001c0001t0009g0221 a0001c0001t0009g0286 a0001c0001t0013g0004 a0001c0001t0015g0022 a0001c0001t0015g0023 a0001c0001t0015g0028 a0001c0001t0015g0029 a0001c0001t0018g0230 a0001c0001t0018g0231 a0001c0001t0021g0030 a0001c0001t0021g0031 a0001c0001t0048g0315 a0001c0003t0005g0003 a0001c0003t0005g0071 a0001c0003t0005g0099 a0001c0003t0005g0136 a0001c0003t0005g0282 a0001c0003t0010g0081 a0001c0003t0010g0210 a0001c0013t0006g0100 a0001c0014t0004g0260 a0001c0019t0007g0014	42	330	0.1273	-120	c.-11 others(19): Show c.-114-5559_-114-5440del		SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12						chr13	TogoVar
SLC9A3_chr5_465456_529449	505324	AGAGGGGA others(113): Show AGAGGGGAGAGTGACTGTAGGGGGGTGGGGAGTGACCATGGAAGGGGGAG AGTGACTGTTGGGGGGTGGGGAGTGACCGCGGGGTGAAGAGTGACTGTAG GAGGGTGGGGAGTGACCATGG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	218	0.0046	-120	c.212 others(19): Show c.212-13373_212-13254del		SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16						chr5	TogoVar
SMOC2_chr6_168436184_168672992	168615484	ACGGCCTC others(113): Show ACGGCCTCTTCACACCTACAGCCAGCACAGGGTCTCTTCATCTTCATACT TACAGCCGGCACAGGGCCTCTTTACATCTACAGCCAGCACAGGGCCTCTT CATACCTACAGCCAGCACAGG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03516.hp2 HG02976.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0114 a0001c0001t0001g0077 a0001c0001t0001g0114	2	180	0.0111	-120	c.907 others(17): Show c.907+7246_907+7365del		SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12						chr6	TogoVar
SMTNL2_chr17_4579529_4613319	4595990	CGCGTGGT others(113): Show CGCGTGGTATTGATGCCTGCTGTGTGCAGGGTGTGGCCCAAGCGTGGTAT TGATGTCTGCTGTGTGCAGGGTGTGGCCCACGCGTGGTATTGATGCCTGC TGTGTGCAGGGTGTGGCCCAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00733.hp2 HG00741.hp1 others(19): Show HG00639.hp2 HG00733.hp2 HG00741.hp1 HG01070.hp2 HG01074.hp1 HG01106.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01928.hp1 HG01975.hp2 HG02004.hp1 HG02109.hp1 HG02647.hp1 HG03834.hp2 HG04115.hp2 HG04199.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0012 a0002c0001 others(1): Show a0001c0002 a0001c0012 a0002c0001 a0004c0014	a0001c0002t0001 a0001c0002t0002 a0001c0012t0001 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0012t0001 a0002c0001t0001 a0004c0014t0001	a0001c0002t0001g0010 a0001c0002t0001g0019 a0001c0002t0001g0044 others(15): Show a0001c0002t0001g0010 a0001c0002t0001g0019 a0001c0002t0001g0044 a0001c0002t0001g0108 a0001c0002t0001g0229 a0001c0002t0001g0263 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0270 a0001c0002t0001g0339 a0001c0002t0002g0010 a0001c0012t0001g0060 a0001c0012t0001g0064 a0001c0012t0001g0065 a0001c0012t0001g0066 a0002c0001t0001g0302 a0004c0014t0001g0019 a0004c0014t0001g0266	22	442	0.0498	-120	c.989 others(15): Show c.989+678_990-736del		SMTNL2	ENSG00000188176.12	transcript	ENST00000389313.9	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr17	TogoVar
SMYD3_chr1_245744347_246512279	245974893	CAGGGAAA others(113): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTGGCCTAGG GAAAGCCATCGTCTCTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	150	0.0067	-120	c.532 others(19): Show c.532-45076_532-44957del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975320	CGGCCCAG others(113): Show CGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCG GCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGC CCAGGGAAAGCCATCGTCTCT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02132.hp2 NA18971.hp1 HG01109.hp2 HG02132.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0001 a0001c0002t0002 a0001c0012t0002 a0001c0001t0001 a0001c0002t0002 a0001c0012t0002	a0001c0001t0001g0055 a0001c0002t0002g0070 a0001c0012t0002g0074 a0001c0001t0001g0055 a0001c0002t0002g0070 a0001c0012t0002g0074	3	150	0.0200	-120	c.532 others(19): Show c.532-45503_532-45384del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975325	CAGGGAAA others(113): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCTGGCCT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	150	0.0067	-120	c.532 others(19): Show c.532-45508_532-45389del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975897	GGCCCAGG others(113): Show GGCCCAGGGAAAGCCATCATCTCTAGCCTAGGGAAAGCCATCGTCTGTAG CCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCC TAGGGAAAGCCATCGTCTCTA	G G	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	150	0.0067	-120	c.532 others(19): Show c.532-46080_532-45961del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976041	AGCCTAGG others(113): Show AGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCCG	A A	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02615.hp1 HG02056.hp2 HG02615.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0002 a0001c0001t0002 a0002c0003t0002	a0001c0001t0002g0087 a0002c0003t0002g0130 a0001c0001t0002g0087 a0002c0003t0002g0130	2	150	0.0133	-120	c.532 others(19): Show c.532-46224_532-46105del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976693	CAGGGAAA others(113): Show CAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCAGCCCA GGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCTAGCCCAGG GAAAGCCATCGTCTCTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA19057.hp2 NA19086.hp1 HG00597.hp1 NA19057.hp2 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0002 a0002c0004t0001 a0001c0002t0002 a0002c0004t0001	a0001c0002t0002g0010 a0001c0002t0002g0088 a0002c0004t0001g0098 a0001c0002t0002g0010 a0001c0002t0002g0088 a0002c0004t0001g0098	3	150	0.0200	-120	c.532 others(19): Show c.532-46876_532-46757del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976929	AGCCTAGG others(113): Show AGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCC CAGGGAAAGCCATCGTCTCCG	A A	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03831.hp2 HG04228.hp1 others(1): Show HG03491.hp2 HG03831.hp2 HG04228.hp1 NA19057.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0050 a0001c0002t0001g0033 a0001c0002t0001g0062 others(1): Show a0001c0001t0001g0050 a0001c0002t0001g0033 a0001c0002t0001g0062 a0002c0003t0001g0109	4	150	0.0267	-120	c.532 others(19): Show c.532-47112_532-46993del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SORCS2_chr4_7187538_7747827	7695520	GTGAGTGG others(113): Show GTGAGTGGATGGGTGGGTGGGTGGATGGATGGATGGATGGATGCATGGAT GGATGGATGGATGGATTGGTGGGTGGGTGGGTGGATGGATGGATGGATGG ATGGATGGATGGGTGGGTGGA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0009 a0009	a0009c0035 a0009c0035	a0009c0035t0028 a0009c0035t0028	a0009c0035t0028g0152 a0009c0035t0028g0152	1	168	0.0060	-120	c.159 others(19): Show c.1592-1675_1592-1556del		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	11/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SPIRE2_chr16_89823475_89876319	89852748	GTCTTCCG others(113): Show GTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTC CTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCA CCCCCCGCATCCCATGGCCCC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	356	0.0028	-120	c.646 others(17): Show c.646-1471_646-1352del		SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
SRC_chr20_37341140_37411050	37361870	TGTAGAGA others(113): Show TGTAGAGATGCCGGGGTCTCTGTGTGCAGGTAGAGATGCCGGGGTCTCTG TGTGCAGGTAGAGATGCCGGGGTCTCTGTGTGCAGGTAGAGATGTAGAGA TGCTGGGGTCTCTGTGTGCAG	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0271 a0001c0001t0024g0271	1	282	0.0036	-120	c.-24 others(19): Show c.-246-3323_-246-3204del		SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr20	TogoVar
SRRD_chr22_26478877_26499658	26487231	ATCTTAAG others(113): Show ATCTTAAGTGAAAAGTTGGTATCTTATTGGAATGCACGGCTTTTTTTGTT TTGCTAAATTCAGTACCAGTACAATAAAAGGAGAGACAAGAGAACCTACC TCTACATGAGAAGACTTAAAC	A A	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0115 a0002c0002t0008g0115	1	448	0.0022	-120	c.251 others(15): Show c.251-797_251-678del		SRRD	ENSG00000100104.13	transcript	ENST00000215917.11	protein_coding	2/6						chr22	TogoVar
SSH1_chr12_108773191_108862583	108850110	GAGATGGG others(113): Show GAGATGGGGAGGGGAGCTCCAGGAGGGAGCTGGGGGAGGGGAGATGGGGA GGGGAGCTCCAGGAGGGAGCTGGGGGAGGGAAGATGGGGAGGGGAGCTCC AGGAGGGAGCTGGGGGAGGGC	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01168.hp2 HG01169.hp2 others(10): Show HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01891.hp1 HG02055.hp1 HG02109.hp2 HG03041.hp2 HG03139.hp1 HG03209.hp1 HG03486.hp2 HG03579.hp2 NA18522.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0007 a0001c0001 a0001c0002 a0002c0007	a0001c0001t0006 a0001c0001t0009 a0001c0001t0028 others(5): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0028 a0001c0001t0083 a0001c0001t0084 a0001c0001t0086 a0001c0002t0087 a0002c0007t0009	a0001c0001t0006g0102 a0001c0001t0006g0106 a0001c0001t0009g0099 others(10): Show a0001c0001t0006g0102 a0001c0001t0006g0106 a0001c0001t0009g0099 a0001c0001t0009g0100 a0001c0001t0009g0101 a0001c0001t0009g0104 a0001c0001t0028g0112 a0001c0001t0028g0114 a0001c0001t0083g0111 a0001c0001t0084g0105 a0001c0001t0086g0113 a0001c0002t0087g0236 a0002c0007t0009g0103	13	332	0.0392	-120	c.110 others(17): Show c.110+2408_110+2527del		SSH1	ENSG00000084112.15	transcript	ENST00000326495.10	protein_coding	2/14						chr12	TogoVar
SSH2_chr17_29620938_29935228	29895242	ATTATATA others(113): Show ATTATATATACATTTTATATATGAAATATATAAAATATATTTTATATATA CATTTTATATATGAAATATATAAAATATATTTTATATATACATTTTATAT ATGAAATATATAAAATATATT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00733.hp2 HG01255.hp1 others(9): Show HG00639.hp2 HG00733.hp2 HG01255.hp1 HG01934.hp2 HG01978.hp2 HG02074.hp2 HG02273.hp2 HG03017.hp2 HG03669.hp1 NA18966.hp1 NA18986.hp2 NA19064.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0017 a0001c0001 a0002c0002 a0009c0017	a0001c0001t0001 a0001c0001t0002 a0002c0002t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0005 a0009c0017t0001	a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0029 others(9): Show a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0029 a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0079 a0001c0001t0002g0019 a0002c0002t0005g0027 a0009c0017t0001g0060	12	232	0.0517	-120	c.63+ others(17): Show c.63+34576_63+34695del		SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15						chr17	TogoVar
STAT3_chr17_42308324_42393442	42337874	AACTCCTT others(113): Show AACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTTGA CCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAA TACTCCTGGACCTGAGGGAAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp2 HG03098.hp2 HG01884.hp1 HG02258.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0019 a0001c0001t0004g0022 a0001c0001t0004g0023	3	302	0.0099	-120	c.551 others(14): Show c.551-137_551-18del		STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23						chr17	TogoVar
STAT3_chr17_42308324_42393442	42337901	TGACCTGA others(113): Show TGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCT TGACCTGAGGGAATACTCCTG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	302	0.0033	-120	c.551 others(14): Show c.551-164_551-45del		STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23						chr17	TogoVar
STAT3_chr17_42308324_42393442	42337921	TGACCTGA others(113): Show TGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTG	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0045	1	302	0.0033	-120	c.551 others(14): Show c.551-184_551-65del		STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23						chr17	TogoVar
STAT3_chr17_42308324_42393442	42338181	TGACCTGA others(113): Show TGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCT GGACCTGAGGGAATACTCCTG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03688.hp1 HG01884.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0275 a0001c0001t0005g0030 a0001c0001t0001g0275 a0001c0001t0005g0030	2	302	0.0066	-120	c.550 others(15): Show c.550+430_551-325del		STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23						chr17	TogoVar
STAU1_chr20_49108339_49193334	49173991	AGGCTTTA others(113): Show AGGCTTTACATTCTTGCCAATAACTTTTCCTGTACTTACTTTCTAATTAA ATCAAGAGTAAAGATGAAATTCAAACTGCATAAAATTTGTTTCTCTAATA TTATAGCCAGAAGTAAAAATC	A A	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0125 a0001c0001t0004g0125	1	366	0.0027	-120	c.-85 others(14): Show c.-85+84_-85+203del		STAU1	ENSG00000124214.21	transcript	ENST00000371856.7	protein_coding	2/13						chr20	TogoVar
STIMATE_chr3_52831733_52902548	52898369	TCTCACCC others(113): Show TCTCACCCATTCTCCCAGCCCAATCTGGGCTCTCTCTGGATACCTTCTTG TTGGTGCTCTAGAGCCGCTGACCTTCCTGCTGCAGAATGTCAGTGAACAC ATGGTGTAAGTCCAGTTGACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00639.hp1 HG00733.hp1 others(40): Show HG00597.hp2 HG00639.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01261.hp2 HG01891.hp2 HG02015.hp1 HG02055.hp2 HG02132.hp1 HG02257.hp1 HG02257.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03486.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG04204.hp2 NA18747.hp1 NA18979.hp2 NA19043.hp2 NA19089.hp1 NA20129.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0025 a0001c0001t0027 a0002c0002t0003	a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0102 others(35): Show a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0102 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0002g0011 a0001c0001t0002g0201 a0001c0001t0003g0021 a0001c0001t0003g0023 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0004g0009 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0005g0175 a0001c0001t0007g0191 a0001c0001t0008g0166 a0001c0001t0008g0190 a0001c0001t0008g0194 a0001c0001t0008g0280 a0001c0001t0008g0281 a0001c0001t0013g0065 a0001c0001t0013g0193 a0001c0001t0014g0033 a0001c0001t0025g0192 a0001c0001t0027g0282 a0002c0002t0003g0022 a0002c0002t0003g0153	43	334	0.1287	-120	c.-10 others(10): Show c.-1039_-920del		STIMATE	ENSG00000213533.13	transcript	ENST00000355083.11	protein_coding					822		chr3	TogoVar
STK3_chr8_98449633_98830688	98825774	GGCCGCCC others(113): Show GGCCGCCCCGCCCCGCCCCCGGCCGCCCCGCCCCGCCCCCGGCCGCCCCG CCCCGCCCCCGGCCGCCCCGCCCCGCCCCCGGCCGCCCCGCCCCGCCCCC GGCCGCGCCGGCCGCCAGCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	170	0.0059	-120	c.-35 others(9): Show c.-354_-235del		STK3	ENSG00000104375.17	transcript	ENST00000419617.7	protein_coding					87		chr8	TogoVar
STON1_chr2_48525154_48603513	48564494	TCTTCTTC others(113): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTCCTCCTCCTC CTCCTCCTCCTTCTCCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02129.hp2 HG03927.hp1 HG01952.hp1 HG02129.hp2 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0018 a0002c0002t0001g0145 a0002c0002t0001g0146	3	376	0.0080	-120	c.-47 others(19): Show c.-47-16087_-47-15968del		STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
STRA8_chr7_135228838_135263663	135262484	AAAAAAAA others(113): Show AAAAAAAAAAAAAAAAAAGAAGAAGAAGAAGACAGAGGTGGAAAGAGTTT TAGCAGAGAGAGCCTTGTGCTTGGGAAAGGGTTCCTTCCTGCCAGGCGGC ACTGAGGATCCCGTGAAGTTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19043.hp1 NA20129.hp2 NA19030.hp1 NA19043.hp1 NA20129.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0016 a0001c0001 a0008c0016	a0001c0001t0003 a0008c0016t0003 a0001c0001t0003 a0008c0016t0003	a0001c0001t0003g0143 a0001c0001t0003g0172 a0008c0016t0003g0140 a0001c0001t0003g0143 a0001c0001t0003g0172 a0008c0016t0003g0140	3	416	0.0072	-120	c.39 others(11): Show c.3993_*4112del		STRA8	ENSG00000146857.5	transcript	ENST00000662584.2	protein_coding					3822		chr7	TogoVar
SYCE3_chr22_50546112_50567919	50547927	GCCCTAAC others(113): Show GCCCTAACCCCAGCCGCATCCCCAGCCCTAACCCCAGTCCCAACCCCAGC CCTAAGCCCAGCTCCAACTCCAGCCCCAACCCCAGCCGCATCCCCTGCCC CAGCCCCCACCTCAGCCCCAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG02074.hp1 HG01192.hp2 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0002 a0001c0001t0001g0013	2	414	0.0048	-120	c.31 others(11): Show c.3198_*3317del		SYCE3	ENSG00000217442.4	transcript	ENST00000406915.4	protein_coding					3184		chr22	TogoVar
SYN3_chr22_32502820_33063381	32671684	TACACACA others(113): Show TACACACACGCTGTCACACAGGTGCACACACATGCTCTCACAGGTACACA CACATGCTATCACACAGGTGCACACACACTGTCACACAGGTGCACACACA CATGCTCTCACACAGGTACAC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0153 a0001c0001t0040g0153	1	184	0.0054	-120	c.712 others(19): Show c.712-75068_712-74949del		SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	6/13						chr22	TogoVar
SYNJ2BP_chr14_70361499_70422090	70395373	GTTATGAA others(113): Show GTTATGAAGACTAGAGTAACAAACACCCTATTTTCCCTTTTCTTTCCCAA GATCAATCCGACTAATTTTCTCCCAGACATCAATCAAACTCCATTGGATA CACAACCCCCCTGTCTGTCTT	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0276 a0001c0001t0002g0276	1	364	0.0028	-120	c.65- others(15): Show c.65-6887_65-6768del		SYNJ2BP	ENSG00000213463.5	transcript	ENST00000256366.6	protein_coding	1/3						chr14	TogoVar
TAF13_chr1_109059140_109081003	109071963	TATATATA others(113): Show TATATATATATATACACACATATATATATATATATATATATATATATATA TACACACACATATATATATATATATATATATACACACACATATATATATA TATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	414	0.0024	-120	c.106 others(17): Show c.106+2904_106+3023del		TAF13	ENSG00000197780.11	transcript	ENST00000338366.6	protein_coding	2/3						chr1	TogoVar
TBC1D22A_chr22_46757650_47180693	47004640	GTATACAC others(113): Show GTATACACACTCAGATGCCTATATACACACACACCTACACACATGCCTAT ATACACACATACCCCTCATACATACACACACCTGCCATATACACATACAC ACACCTACATACACATCTCTA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02615.hp2 HG02809.hp1 others(4): Show HG02109.hp1 HG02615.hp2 HG02809.hp1 HG02965.hp1 HG03225.hp2 NA18522.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007	a0001c0001t0001g0090 a0001c0001t0003g0035 a0001c0001t0004g0045 others(4): Show a0001c0001t0001g0090 a0001c0001t0003g0035 a0001c0001t0004g0045 a0001c0001t0004g0067 a0001c0001t0005g0105 a0001c0001t0007g0077 a0001c0001t0007g0095	7	112	0.0625	-120	c.120 others(19): Show c.1201+6965_1201+7084del		TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
TBXAS1_chr7_139824264_140025293	139950658	TCCCTCAC others(113): Show TCCCTCACCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCC CCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCC TCGCCCTCCATCTACGGGACC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02970.hp2 HG03486.hp1 HG02717.hp1 HG02970.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0108 a0001c0001t0001g0166 a0001c0001t0001g0041 a0001c0001t0001g0108 a0001c0001t0001g0166	3	270	0.0111	-120	c.451 others(17): Show c.451-2704_451-2585del		TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
TBXAS1_chr7_139824264_140025293	139950691	CTCCATCT others(113): Show CTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCT CCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCC ATCTACGGGACCCCCTCGCCT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	270	0.0037	-120	c.451 others(17): Show c.451-2595_451-2476del		TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
TBXAS1_chr7_139824264_140025293	139950773	GGGACCCC others(113): Show GGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCTTCCATCTACGG GACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGA CCCCCTCGCCCTCCATCTACA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02273.hp1 HG03225.hp1 HG01081.hp2 HG02273.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0002 a0001c0001t0001g0065 a0001c0001t0001g0073	3	270	0.0111	-120	c.451 others(17): Show c.451-2588_451-2469del		TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
TCAF1_chr7_143846375_143907176	143859911	TTACGGAA others(113): Show TTACGGAATATATATTATATAATATATATTATATAATATATATTACGGAA TATATATTATATAATATATATTATATAATATATATTATATAATATATATA TAATATATATTATATATTATA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02109.hp2 HG00735.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0057 a0001c0001t0018g0058 a0001c0001t0018g0057 a0001c0001t0018g0058	2	256	0.0078	-120	c.216 others(17): Show c.2167+177_2167+296del		TCAF1	ENSG00000198420.10	transcript	ENST00000479870.6	protein_coding	6/8						chr7	TogoVar
TESC_chr12_117033923_117104416	117075851	ATATATAT others(113): Show ATATATATATATATATATATGTGTGTATATATATATATATATATATATAT ATATATATATATATGTGTGTGTGTATATATATATATATATGTATATATAC ATATATATATATATATGTATG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	312	0.0032	-120	c.59- others(13): Show c.59-631_59-512del		TESC	ENSG00000088992.18	transcript	ENST00000335209.12	protein_coding	1/7						chr12	TogoVar
TEX13C_chrX_125314871_125330214	125322244	AACAGCCA others(113): Show AACAGCCATAGCCTGAAGAAAGATCCAGTGGTGCCCCAGGGCACAGCTCC CCTGATGTTTAGCAGGAGACACAGCCTGAAGAAAGTGCCAGTGATGCCCA AGGAGATGGTCCCCCTGGGGG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01891.hp1 HG01891.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0003 a0012c0017t0003	a0012c0017t0003g0001 a0012c0017t0003g0001	1	303	0.0033	-120	c.213 others(9): Show c.2133_2252del	p.Ser others(13): Show p.Ser712_His751del	TEX13C	ENSG00000282815.2	transcript	ENST00000695840.1	protein_coding	1/2	2382/4765	2133/2982	711/993		INFO_REALIGN_3_PRIME	chrX	TogoVar
TEX19_chr17_82354247_82368775	82361276	TCAGTTTC others(113): Show TCAGTTTCCCCCAGTTTCCCTCAGGTTCCCCCAGTTTCCCTCAGTTTCCC TTAGGTTTCCTCAAGTTGCCTCAGTTTCCTTCAGGTTCCCTCAATTTCCA TCAGGTCCCCTCAGGCTCTGC	T T	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0058 a0003c0007t0002g0058	1	380	0.0026	-120	c.-27 others(17): Show c.-271-594_-271-475del		TEX19	ENSG00000182459.5	transcript	ENST00000333437.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr17	TogoVar
THBS3_chr1_155190588_155212897	155191340	GCGGGCGC others(113): Show GCGGGCGCGGTGGAGCCCGGGTCCGTCCTTCTCTCCGAGGGCCGAGGTGA CATCGTAGACTGCGGGCGCGGTGGAGCCCGGGTCCGGCCTGCTCTCCGAG GCCGAGGTGACACCGTAGACT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG04199.hp1 NA18956.hp1 others(2): Show HG03927.hp1 HG04199.hp1 NA18956.hp1 NA18966.hp2 NA19067.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0026 a0002c0002t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0026 a0002c0002t0001g0003	5	298	0.0168	-120	c.43 others(11): Show c.4381_*4500del		THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding					4247		chr1	TogoVar
TMEM132D_chr12_129066726_129909025	129089165	GGGTGTCC others(113): Show GGGTGTCCTCCATGACCGGGATGTCCTCCATGACCGGGTGTCCTCTATGA CCGGGTGTCCTCTATGACCGGGTGTCCTCCCTGACCGGGTGTCCTCCATG ACCGGGATGTCCTCCATGACC	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0051 a0001c0001t0006g0051	1	94	0.0106	-120	c.144 others(19): Show c.1444-4583_1444-4464del		TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8						chr12	TogoVar
TMEM144_chr4_158205486_158260416	158256896	CTATAGTA others(113): Show CTATAGTATTATATATATTATATATAGTATTATATATTATATATAGTATT ATATATATTATATATAGTATTATATATTATATATAGTATTATATATATTA TATATAGTATTATATATTATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01109.hp2 HG02257.hp1 others(20): Show HG00735.hp1 HG01109.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG03225.hp2 HG03540.hp2 NA19240.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 others(4): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0001t0020 a0002c0004t0049 a0002c0004t0050	a0001c0001t0004g0004 a0001c0001t0004g0015 a0001c0001t0004g0059 others(16): Show a0001c0001t0004g0004 a0001c0001t0004g0015 a0001c0001t0004g0059 a0001c0001t0004g0067 a0001c0001t0004g0083 a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0006g0089 a0001c0001t0009g0088 a0001c0001t0014g0045 a0001c0001t0014g0046 a0001c0001t0014g0047 a0001c0001t0014g0048 a0001c0001t0020g0012 a0001c0001t0020g0171 a0002c0004t0049g0013 a0002c0004t0050g0013	23	274	0.0839	-120	c.33 others(11): Show c.3370_*3489del		TMEM144	ENSG00000164124.11	transcript	ENST00000296529.11	protein_coding					1481		chr4	TogoVar
TMEM184A_chr7_1537235_1561205	1551117	AAGCCCAG others(113): Show AAGCCCAGGTGAGCCGGGAAGGAGGTGGGGGTGGGCGCAGGAGGGTTCGC GTGAGAGCCGGGCCCGCCCTGGGCGCAGGAGGGTTCGCGTGAGAGCCGGG TCCACCCGGTACCCCTGCACC	A A	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA19088.hp2 NA18994.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	2	420	0.0048	-120	c.220 others(15): Show c.220-255_220-136del		TMEM184A	ENSG00000164855.16	transcript	ENST00000297477.10	protein_coding	2/8						chr7	TogoVar
TMEM184A_chr7_1537235_1561205	1551176	GGGCCCGC others(113): Show GGGCCCGCCCTGGGCGCAGGAGGGTTCGCGTGAGAGCCGGGTCCACCCGG TACCCCTGCACCAGCCCAGGTGAGCCGGGAAGGAGGTGGGGGTGGGCGCA GGAGGGTTCGGGTGAGAGCCA	G G	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG03486.hp2 HG03669.hp1 others(9): Show HG02080.hp1 HG03486.hp2 HG03669.hp1 HG03688.hp2 NA18957.hp1 NA18960.hp1 NA18977.hp2 NA18995.hp2 NA19011.hp2 NA19055.hp2 NA19057.hp2 NA19089.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0033 a0001c0001t0043 others(3): Show a0001c0001t0001 a0001c0001t0033 a0001c0001t0043 a0001c0001t0059 a0002c0002t0065 a0003c0003t0001	a0001c0001t0001g0009 a0001c0001t0001g0067 a0001c0001t0033g0068 others(4): Show a0001c0001t0001g0009 a0001c0001t0001g0067 a0001c0001t0033g0068 a0001c0001t0043g0069 a0001c0001t0059g0070 a0002c0002t0065g0066 a0003c0003t0001g0036	12	420	0.0286	-120	c.220 others(15): Show c.220-314_220-195del		TMEM184A	ENSG00000164855.16	transcript	ENST00000297477.10	protein_coding	2/8						chr7	TogoVar
TMPRSS4_chr11_118072078_118126890	118096908	AAAGGGAG others(113): Show AAAGGGAGAGAGAAAGGAAAGAAAGAAAGAGAAAGAAAGAAAGGAAGGAA AGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	406	0.0025	-120	c.43+ others(15): Show c.43+2056_44-1955del		TMPRSS4	ENSG00000137648.19	transcript	ENST00000437212.8	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
TNXB_chr6_32036153_32114338	32043718	ACCTCTTG others(113): Show ACCTCTTGCCCCGGGTCCCAGTCCATCTCACCCGTGGTGAGGAAGCCTGT GAGAGGCTCACTCTCCTCAAAGCCTCGGACCGAGACCACGGTCACCTCAT AGCGAGCGCCTGGGATCAGCC	A A	splice_donor_variant others(3): Show splice_donor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA18943.hp1 NA18943.hp1	a0088 a0088	a0088c0118 a0088c0118	a0088c0118t0002 a0088c0118t0002	a0088c0118t0002g0374 a0088c0118t0002g0374	1	401	0.0025	-120	c.114 others(14): Show c.11441_11530+30del	p.Gly others(15): Show p.Gly3814_Thr3843del	TNXB	ENSG00000168477.21	transcript	ENST00000644971.2	protein_coding	35/44		11441/12735	3814/4244			chr6	TogoVar
TP73_chr1_3647516_3741201	3674989	GGTCTCCT others(113): Show GGTCTCCTCCCACAATGGCCCAGGTGTCTCCTCCCACAATGGCCCAGGTG TCTCCTCCCACAATGGCCCAGGTGTCTCCTCCCACAATGGCCCAGGTGTC TCCTCCCACAATGGCCCAGGT	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01496.hp2 HG01981.hp1 others(6): Show HG00741.hp1 HG01496.hp2 HG01981.hp1 HG02300.hp1 HG02572.hp1 HG02965.hp2 HG03139.hp1 NA18940.hp2 NA19010.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0003c0008	a0001c0001t0005 a0001c0001t0007 a0001c0002t0001 others(3): Show a0001c0001t0005 a0001c0001t0007 a0001c0002t0001 a0001c0002t0043 a0001c0005t0022 a0003c0008t0019	a0001c0001t0005g0042 a0001c0001t0007g0348 a0001c0002t0001g0183 others(6): Show a0001c0001t0005g0042 a0001c0001t0007g0348 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0198 a0001c0002t0001g0245 a0001c0002t0043g0145 a0001c0005t0022g0177 a0003c0008t0019g0196	9	358	0.0251	-120	c.-33 others(17): Show c.-33-7107_-33-6988del		TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
TPD52L2_chr20_63860270_63896538	63879860	GGGCACAA others(113): Show GGGCACAAATGCAGGTGCAGCTTCCCCATCCCCACTCTTAGGGCACAAAT GCAGGTGCAGCTTCCCCATCCCCACTCTTTAGGCACAAATGCAGGTGCAG CTTCCCCATCCCCACTCTTTA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02055.hp1 NA18943.hp1 HG01167.hp2 HG02055.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0238 a0001c0001t0003g0058 a0001c0001t0004g0200 a0001c0001t0002g0238 a0001c0001t0003g0058 a0001c0001t0004g0200	3	368	0.0082	-120	c.375 others(17): Show c.375-2716_375-2597del		TPD52L2	ENSG00000101150.18	transcript	ENST00000346249.9	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr20	TogoVar
TPD52L2_chr20_63860270_63896538	63880123	TCCCATCC others(113): Show TCCCATCCCCACTCTTAGGGCACAAATGCAGGTGCAGCTTCCCCATCCCC ACTCTTTAGGCACAAATGCAGGTGCAGCTTCCCCATCCCCACTCTTAGGG CACAAATGCAGGTGCAGCTTC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00597.hp2 HG00621.hp2 others(48): Show HG00280.hp2 HG00597.hp2 HG00621.hp2 HG00735.hp1 HG01106.hp2 HG01346.hp2 HG01496.hp2 HG01884.hp1 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02280.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02886.hp2 HG03017.hp1 HG03041.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03540.hp1 HG03669.hp1 HG03831.hp1 HG03834.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18960.hp2 NA18974.hp2 NA18989.hp2 NA18998.hp2 NA19057.hp2 NA19058.hp1 NA19068.hp1 NA19080.hp2 NA19240.hp1 NA20752.hp2 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(7): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0021 a0001c0001t0022 a0003c0003t0008	a0001c0001t0002g0162 a0001c0001t0004g0008 a0001c0001t0004g0017 others(43): Show a0001c0001t0002g0162 a0001c0001t0004g0008 a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0083 a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0001t0004g0087 a0001c0001t0004g0089 a0001c0001t0004g0091 a0001c0001t0004g0093 a0001c0001t0004g0097 a0001c0001t0004g0098 a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0004g0109 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0004g0268 a0001c0001t0004g0269 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0302 a0001c0001t0006g0016 a0001c0001t0006g0088 a0001c0001t0006g0092 a0001c0001t0006g0094 a0001c0001t0006g0096 a0001c0001t0006g0099 a0001c0001t0006g0161 a0001c0001t0007g0104 a0001c0001t0007g0105 a0001c0001t0007g0106 a0001c0001t0007g0110 a0001c0001t0007g0157 a0001c0001t0008g0086 a0001c0001t0008g0095 a0001c0001t0008g0107 a0001c0001t0010g0150 a0001c0001t0012g0090 a0001c0001t0021g0108 a0001c0001t0022g0151 a0003c0003t0008g0082	51	368	0.1386	-120	c.375 others(17): Show c.375-2460_375-2341del		TPD52L2	ENSG00000101150.18	transcript	ENST00000346249.9	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr20	TogoVar

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