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
SIPA1L3_chr19_37902208_38213369	37937741	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01515.hp1 HG01952.hp2 others(5): Show HG01496.hp2 HG01515.hp1 HG01952.hp2 HG01981.hp1 HG03834.hp1 HG04199.hp2 NA18946.hp1 NA18946.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0005c0017	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(5): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0003t0004 a0001c0003t0005 a0002c0002t0001 a0002c0002t0003 a0005c0017t0002	a0001c0001t0004g0105 a0001c0001t0005g0122 a0001c0001t0006g0072 others(5): Show a0001c0001t0004g0105 a0001c0001t0005g0122 a0001c0001t0006g0072 a0001c0003t0004g0091 a0001c0003t0005g0073 a0002c0002t0001g0063 a0002c0002t0003g0060 a0005c0017t0002g0118	8	51	0.1569	22	c.-37 others(43): Show c.-379+30385_-379+30406dupAAAAAAAAAAAAAAAAAAAAAA	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIPA1L3_chr19_37902208_38213369	38030623	A A	AATACATA others(15): Show AATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02970.hp2 HG03486.hp2 others(1): Show HG01891.hp2 HG02970.hp2 HG03486.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0009 a0001c0006t0010 a0001c0001t0002 a0001c0006t0009 a0001c0006t0010	a0001c0001t0002g0125 a0001c0006t0009g0140 a0001c0006t0010g0084 others(1): Show a0001c0001t0002g0125 a0001c0006t0009g0140 a0001c0006t0010g0084 a0001c0006t0010g0085	4	114	0.0351	22	c.-31 others(41): Show c.-311+1470_-311+1471insCATATATATATATATATATATA	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIRPG_chr20_1624152_1662779	1650002	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02293.hp2 HG02683.hp1 others(9): Show HG01993.hp1 HG02293.hp2 HG02683.hp1 HG04204.hp1 NA18964.hp2 NA19002.hp1 NA19030.hp1 NA19063.hp2 NA19065.hp2 NA19075.hp1 NA19079.hp1 NA19084.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0002c0011 a0004c0008 others(1): Show a0002c0002 a0002c0011 a0004c0008 a0004c0017	a0002c0002t0003 a0002c0011t0010 a0004c0008t0003 others(1): Show a0002c0002t0003 a0002c0011t0010 a0004c0008t0003 a0004c0017t0002	a0002c0002t0003g0006 a0002c0002t0003g0098 a0002c0002t0003g0101 others(5): Show a0002c0002t0003g0006 a0002c0002t0003g0098 a0002c0002t0003g0101 a0002c0002t0003g0102 a0002c0002t0003g0125 a0002c0011t0010g0238 a0004c0008t0003g0100 a0004c0017t0002g0099	12	147	0.0816	22	c.74- others(35): Show c.74-595_74-594insTATATATATATATATATATATA	SIRPG	ENSG00000089012.14	transcript	ENST00000303415.7	protein_coding	1/5			chr20	TogoVar
SIRPG_chr20_1624152_1662779	1650004	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0236 a0001c0004t0004g0236	1	71	0.0141	22	c.74- others(35): Show c.74-618_74-597dupTATATATATATATATATATATA	SIRPG	ENSG00000089012.14	transcript	ENST00000303415.7	protein_coding	1/5			chr20	TogoVar
SIRPG_chr20_1624152_1662779	1650004	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0001 a0007c0015t0001	a0007c0015t0001g0050 a0007c0015t0001g0050	1	71	0.0141	22	c.74- others(35): Show c.74-597_74-596insTATATATATATATATATATACA	SIRPG	ENSG00000089012.14	transcript	ENST00000303415.7	protein_coding	1/5			chr20	TogoVar
SIRT6_chr19_4169109_4187563	4182965	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	103	0.0097	22	c.-44 others(31): Show c.-448_-427dupCACACACACACACACACACACA	SIRT6	ENSG00000077463.15	transcript	ENST00000337491.7	protein_coding		403		chr19	TogoVar
SIT1_chr9_35644295_35655931	35647667	T T	TGAGAGAG others(15): Show TGAGAGAGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG02602.hp1 NA18942.hp1 HG00621.hp2 HG02602.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0003 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0003	3	24	0.1250	22	c.21 others(33): Show c.2180_*2181insTCTCTCTCTCTCTCTCTCTCTC	SIT1	ENSG00000137078.10	transcript	ENST00000259608.8	protein_coding		1627		chr9	TogoVar
SI_chr3_164973898_165083496	165065464	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG03017.hp1 others(11): Show HG00280.hp1 HG00438.hp1 HG03017.hp1 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03516.hp1 HG03540.hp2 HG03942.hp1 NA18955.hp2 NA18982.hp2 NA19065.hp2 NA19083.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0003 a0004c0004t0004 a0001c0001t0001 a0001c0001t0003 a0004c0004t0004	a0001c0001t0001g0029 a0001c0001t0001g0075 a0001c0001t0001g0076 others(11): Show a0001c0001t0001g0029 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0107 a0001c0001t0001g0122 a0001c0001t0001g0152 a0001c0001t0003g0105 a0004c0004t0004g0027 a0004c0004t0004g0080 a0004c0004t0004g0081 a0004c0004t0004g0100	14	125	0.1120	22	c.636 others(35): Show c.636-54_636-33dupATATATATATATATATATATAT	SI	ENSG00000090402.8	transcript	ENST00000264382.8	protein_coding	6/47			chr3	TogoVar
SKAP2_chr7_26662068_26869590	26857310	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 NA19089.hp2 HG01123.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0019 a0001c0001t0004 a0001c0001t0019	a0001c0001t0004g0107 a0001c0001t0019g0108 a0001c0001t0004g0107 a0001c0001t0019g0108	2	11	0.1818	22	c.68- others(37): Show c.68-2442_68-2421dupTTTTTTTTTTTTTTTTTTTTTT	SKAP2	ENSG00000005020.13	transcript	ENST00000345317.7	protein_coding	1/12			chr7	TogoVar
SKAP2_chr7_26662068_26869590	26867624	T T	TACATATA others(15): Show TACATATATATACATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01167.hp1 HG01169.hp1 HG00741.hp2 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0001 a0001c0001t0007g0007 a0001c0001t0007g0001 a0001c0001t0007g0007	3	293	0.0102	22	c.-32 others(33): Show c.-3217_-3196dupGTATATATATGTATATATATGT	SKAP2	ENSG00000005020.13	transcript	ENST00000345317.7	protein_coding		3035		chr7	TogoVar
SKIL_chr3_170352715_170401835	170365752	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 NA18950.hp2 NA18969.hp1 others(3): Show HG01978.hp1 NA18950.hp2 NA18969.hp1 NA19004.hp2 NA19066.hp2 NA19089.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0018 a0002c0002t0046 others(1): Show a0002c0002t0006 a0002c0002t0018 a0002c0002t0046 a0002c0002t0047	a0002c0002t0006g0319 a0002c0002t0006g0321 a0002c0002t0006g0323 others(3): Show a0002c0002t0006g0319 a0002c0002t0006g0321 a0002c0002t0006g0323 a0002c0002t0018g0318 a0002c0002t0046g0322 a0002c0002t0047g0320	6	52	0.1154	22	c.109 others(41): Show c.1098+4344_1098+4345insTTTTTTTTTTTTTTTTTTTTTT	SKIL	ENSG00000136603.15	transcript	ENST00000259119.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SKIL_chr3_170352715_170401835	170400749	C C	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0329 a0002c0002t0006g0329	1	359	0.0028	22	c.83 others(33): Show c.8332_*8333insTTTCTTTCTTTCTTTCTTTCTT	SKIL	ENSG00000136603.15	transcript	ENST00000259119.9	protein_coding		3915		chr3	TogoVar
SKIL_chr3_170352715_170401835	170400753	C C	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0312 a0002c0002t0006g0312	1	357	0.0028	22	c.83 others(33): Show c.8336_*8337insTTTCTTTCTTTCTTTCTTTCTT	SKIL	ENSG00000136603.15	transcript	ENST00000259119.9	protein_coding		3919		chr3	TogoVar
SKIL_chr3_170352715_170401835	170400757	C C	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0328 a0002c0002t0006g0328	1	355	0.0028	22	c.83 others(33): Show c.8340_*8341insTTTCTTTCTTTCTTTCTTTCTT	SKIL	ENSG00000136603.15	transcript	ENST00000259119.9	protein_coding		3923		chr3	TogoVar
SKI_chr1_2223319_2315213	2272818	A A	ACCACGCC others(15): Show ACCACGCCCCGAGCCTCCCCCTC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0063 a0001c0001t0013g0063	1	328	0.0030	22	c.970 others(41): Show c.970-30143_970-30122dupCCCCTCCCACGCCCCGAGCCTC	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SKI_chr1_2223319_2315213	2281252	G G	GGTGGCGG others(15): Show GGTGGCGGAGATCTTCAGAGAGA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03654.hp1 HG03130.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0327 a0001c0001t0007g0107 a0001c0001t0002g0327 a0001c0001t0007g0107	2	183	0.0109	22	c.970 others(41): Show c.970-21726_970-21725insGTGGCGGAGATCTTCAGAGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SKI_chr1_2223319_2315213	2281339	G G	GGTGGCGG others(15): Show GGTGGCGGAGATCTTCAGAGAGA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01975.hp2 HG01978.hp2 others(2): Show HG01081.hp1 HG01975.hp2 HG01978.hp2 HG02165.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0074 a0001c0001t0001g0109 a0001c0001t0001g0140 others(2): Show a0001c0001t0001g0074 a0001c0001t0001g0109 a0001c0001t0001g0140 a0001c0001t0001g0164 a0001c0001t0002g0123	5	151	0.0331	22	c.970 others(41): Show c.970-21639_970-21638insGTGGCGGAGATCTTCAGAGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SKI_chr1_2223319_2315213	2282114	G G	GGTGGCGG others(15): Show GGTGGCGGAGATCTTCAGAGAGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02615.hp2 HG02647.hp1 others(3): Show HG01884.hp1 HG02615.hp2 HG02647.hp1 HG02809.hp2 HG03453.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0009 a0001c0001t0068 others(1): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0068 a0001c0003t0020	a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0105 others(3): Show a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0105 a0001c0001t0009g0100 a0001c0001t0068g0103 a0001c0003t0020g0013	6	152	0.0395	22	c.970 others(41): Show c.970-20864_970-20863insGTGGCGGAGATCTTCAGAGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SKOR2_chr18_47201169_47256660	47245478	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp2 HG01891.hp2 HG02486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0002 a0001c0001t0004 a0002c0002t0002	a0001c0001t0004g0123 a0002c0002t0002g0138 a0001c0001t0004g0123 a0002c0002t0002g0138	2	98	0.0204	22	c.267 others(37): Show c.2677+19_2677+20insAAAAAAAAAAAAAAAAAAAAAA	SKOR2	ENSG00000215474.8	transcript	ENST00000425639.3	protein_coding	3/8			chr18	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACACACA others(15): Show TACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01255.hp2 HG02486.hp2 others(10): Show HG00735.hp1 HG01255.hp2 HG02486.hp2 HG02738.hp2 HG02970.hp2 HG03453.hp1 HG06807.hp1 NA18942.hp2 NA18943.hp1 NA18968.hp1 NA18983.hp1 NA19079.hp2 NA19091.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0004 a0001c0001 a0006c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0006c0004t0001	a0001c0001t0001g0054 a0001c0001t0001g0096 a0001c0001t0001g0100 others(10): Show a0001c0001t0001g0054 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0301 a0001c0001t0001g0316 a0001c0001t0002g0039 a0001c0001t0002g0045 a0001c0001t0002g0218 a0001c0001t0007g0304 a0006c0004t0001g0071	13	107	0.1215	22	c.46 others(33): Show c.4688_*4709dupGTGTGTGTGTGTGTGTGTGTGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(15): Show TACATACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0011 a0001c0001t0005g0011	1	95	0.0105	22	c.47 others(33): Show c.4709_*4710insGTGTGTGTGTGTGTGTGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(15): Show TACATACATACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 NA18969.hp2 HG00735.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0258 a0001c0001t0001g0185 a0001c0001t0001g0258	2	96	0.0208	22	c.47 others(33): Show c.4709_*4710insGTGTGTGTGTGTGTATGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLA2_chr20_36607318_36651196	36609156	T T	TACATACA others(15): Show TACATACATACATATACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01175.hp2 HG01884.hp2 others(2): Show HG01109.hp2 HG01175.hp2 HG01884.hp2 HG03486.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0130 a0001c0001t0001g0206 a0001c0001t0001g0241 others(2): Show a0001c0001t0001g0130 a0001c0001t0001g0206 a0001c0001t0001g0241 a0001c0001t0001g0353 a0001c0001t0003g0009	5	99	0.0505	22	c.47 others(33): Show c.4709_*4710insGTGTGTGTATATGTATGTATGT	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3161		chr20	TogoVar
SLAIN1_chr13_77692687_77769229	77743667	T T	TGAAGCCA others(15): Show TGAAGCCATTGATTTTTTTATCC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG03490.hp1 HG02135.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0036 a0001c0001t0001g0037	2	298	0.0067	22	c.767 others(37): Show c.767-615_767-594dupGAAGCCATTGATTTTTTTATCC	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLAIN2_chr4_48336529_48431201	48395810	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0214 a0001c0003t0012g0214	1	37	0.0270	22	c.136 others(43): Show c.1360+12044_1360+12045insTTTTTTTTTTTTTTTTTTTTTT	SLAIN2	ENSG00000109171.15	transcript	ENST00000264313.11	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLAMF6_chr1_160480036_160528255	160484211	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG04228.hp1 HG02165.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0183 a0001c0001t0001g0059 a0001c0001t0001g0183	2	314	0.0064	22	c.24 others(33): Show c.2495_*2496insTATATATATATATATATATATA	SLAMF6	ENSG00000162739.14	transcript	ENST00000368057.8	protein_coding		824		chr1	TogoVar
SLAMF6_chr1_160480036_160528255	160484243	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 NA18946.hp1 NA18980.hp1 HG01070.hp2 NA18946.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0015	3	157	0.0191	22	c.24 others(33): Show c.2463_*2464insAATATATATATATATATATATA	SLAMF6	ENSG00000162739.14	transcript	ENST00000368057.8	protein_coding		792		chr1	TogoVar
SLAMF6_chr1_160480036_160528255	160484243	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	155	0.0065	22	c.24 others(33): Show c.2463_*2464insAAAATATATATATATATATATA	SLAMF6	ENSG00000162739.14	transcript	ENST00000368057.8	protein_coding		792		chr1	TogoVar
SLAMF6_chr1_160480036_160528255	160484243	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG03710.hp1 HG01516.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0067 a0001c0001t0001g0005 a0001c0001t0001g0067	2	156	0.0128	22	c.24 others(33): Show c.2463_*2464insAAAAAATATATATATATATATA	SLAMF6	ENSG00000162739.14	transcript	ENST00000368057.8	protein_coding		792		chr1	TogoVar
SLAMF6_chr1_160480036_160528255	160484243	A A	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	155	0.0065	22	c.24 others(33): Show c.2463_*2464insAAAAAAAAAATATATATATATA	SLAMF6	ENSG00000162739.14	transcript	ENST00000368057.8	protein_coding		792		chr1	TogoVar
SLC10A6_chr4_86818468_86854384	86837225	G G	GAGAGAAA others(15): Show GAGAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	195	0.0051	22	c.378 others(39): Show c.378-3802_378-3801insTTCTTTCTTTCTTTCTTTCTCT	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC12A1_chr15_48201302_48309078	48250673	G G	GACACACA others(15): Show GACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01346.hp2 HG01993.hp2 others(6): Show HG01175.hp1 HG01346.hp2 HG01993.hp2 HG02132.hp2 HG03688.hp2 NA18970.hp2 NA18983.hp1 NA19054.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0055 a0001c0001t0001g0110 a0001c0001t0001g0133 others(6): Show a0001c0001t0001g0055 a0001c0001t0001g0110 a0001c0001t0001g0133 a0001c0001t0001g0144 a0001c0001t0001g0160 a0001c0001t0001g0196 a0001c0001t0001g0211 a0001c0001t0001g0237 a0001c0001t0002g0234	9	234	0.0385	22	c.178 others(39): Show c.1787-942_1787-941insACACACACACACACACACACAC	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	14/26			chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48250676	T T	TCACACAC others(15): Show TCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	18	0.0556	22	c.178 others(39): Show c.1787-929_1787-908dupACACACACACACACACACACAC	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A2_chr5_128078766_128194677	128088007	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA18993.hp1 HG02572.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0011 a0001c0001t0002 a0001c0002t0011	a0001c0001t0002g0318 a0001c0002t0011g0112 a0001c0001t0002g0318 a0001c0002t0011g0112	2	101	0.0198	22	c.756 others(39): Show c.756+3309_756+3330dupGTGTGTGTGTGTGTGTGTGTGT	SLC12A2	ENSG00000064651.14	transcript	ENST00000262461.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC12A2_chr5_128078766_128194677	128126966	A A	ATATATAT others(15): Show ATATATATATATATATAATTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0053 a0001c0002t0004g0053	1	74	0.0135	22	c.104 others(41): Show c.1049-4100_1049-4099insATATATATATATATAATTTTTT	SLC12A2	ENSG00000064651.14	transcript	ENST00000262461.7	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC12A2_chr5_128078766_128194677	128126971	T T	TATATATA others(15): Show TATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02970.hp2 HG02258.hp1 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0013 a0001c0002 a0001c0013	a0001c0002t0005 a0001c0013t0005 a0001c0002t0005 a0001c0013t0005	a0001c0002t0005g0119 a0001c0013t0005g0123 a0001c0002t0005g0119 a0001c0013t0005g0123	2	341	0.0059	22	c.104 others(41): Show c.1049-4096_1049-4095insATATATATATATATATATATAA	SLC12A2	ENSG00000064651.14	transcript	ENST00000262461.7	protein_coding	4/26			chr5	TogoVar
SLC12A3_chr16_56860207_56920850	56887772	T T	TTTTATAT others(15): Show TTTTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01993.hp2 NA18522.hp1 HG00323.hp2 HG01993.hp2 NA18522.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0003 a0003c0019 a0004c0013 a0001c0003 a0003c0019 a0004c0013	a0001c0003t0002 a0003c0019t0003 a0004c0013t0009 a0001c0003t0002 a0003c0019t0003 a0004c0013t0009	a0001c0003t0002g0401 a0003c0019t0003g0186 a0004c0013t0009g0355 a0001c0003t0002g0401 a0003c0019t0003g0186 a0004c0013t0009g0355	3	356	0.0084	22	c.217 others(39): Show c.2179-152_2179-151insTTATATATATATATATATATAT	SLC12A3	ENSG00000070915.10	transcript	ENST00000563236.6	protein_coding	17/25		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC12A3_chr16_56860207_56920850	56887798	A A	ATATATAT others(15): Show ATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18960.hp2 HG02135.hp1 NA18960.hp2	a0001 a0001	a0001c0003 a0001c0027 a0001c0003 a0001c0027	a0001c0003t0003 a0001c0027t0003 a0001c0003t0003 a0001c0027t0003	a0001c0003t0003g0221 a0001c0027t0003g0238 a0001c0003t0003g0221 a0001c0027t0003g0238	2	334	0.0060	22	c.217 others(39): Show c.2179-126_2179-125insATATATATATATATATATTTTT	SLC12A3	ENSG00000070915.10	transcript	ENST00000563236.6	protein_coding	17/25		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC12A3_chr16_56860207_56920850	56908161	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01081.hp1 HG01168.hp2 others(7): Show HG01074.hp1 HG01081.hp1 HG01168.hp2 HG01169.hp2 HG01433.hp1 HG04228.hp1 NA18940.hp1 NA18980.hp2 NA19002.hp2 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0009 a0002c0011 others(3): Show a0001c0001 a0002c0009 a0002c0011 a0002c0014 a0002c0018 a0002c0028	a0001c0001t0001 a0002c0009t0002 a0002c0009t0005 others(4): Show a0001c0001t0001 a0002c0009t0002 a0002c0009t0005 a0002c0011t0005 a0002c0014t0005 a0002c0018t0005 a0002c0028t0005	a0001c0001t0001g0117 a0002c0009t0002g0215 a0002c0009t0005g0323 others(7): Show a0001c0001t0001g0117 a0002c0009t0002g0215 a0002c0009t0005g0323 a0002c0009t0005g0380 a0002c0011t0005g0284 a0002c0011t0005g0404 a0002c0014t0005g0258 a0002c0018t0005g0399 a0002c0018t0005g0400 a0002c0028t0005g0027	10	203	0.0493	22	c.292 others(41): Show c.2924+3718_2924+3719insTTTTTTTTTTTTTTTTTTTTTT	SLC12A3	ENSG00000070915.10	transcript	ENST00000563236.6	protein_coding	25/25		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC12A4_chr16_67938474_67973637	67966915	A A	AGGGGCCA others(15): Show AGGGGCCAAGGCGTGGCCAAGGT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	278	0.0036	22	c.115 others(39): Show c.115+1502_115+1523dupACCTTGGCCACGCCTTGGCCCC	SLC12A4	ENSG00000124067.17	transcript	ENST00000316341.8	protein_coding	1/23			chr16	TogoVar
SLC12A6_chr15_34224784_34342781	34310414	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0034 a0001c0003t0034	a0001c0003t0034g0172 a0001c0003t0034g0172	1	248	0.0040	22	c.271 others(41): Show c.271+25974_271+25995dupACACACACACACACACACACAC	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	2/25			chr15	TogoVar
SLC12A6_chr15_34224784_34342781	34323940	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	186	0.0054	22	c.271 others(41): Show c.271+12469_271+12470insTTTTTTTTTTTTTTTTTTTTTT	SLC12A6	ENSG00000140199.13	transcript	ENST00000354181.8	protein_coding	2/25			chr15	TogoVar
SLC12A7_chr5_1045384_1117063	1064739	G G	GAGGAGAC others(15): Show GAGGAGACGGTGAAGGGACAGCA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0057 a0002c0016t0001g0057	1	18	0.0556	22	c.243 others(39): Show c.2438-488_2438-487insTGCTGTCCCTTCACCGTCTCCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	18/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070171	C C	CAGCCCCC others(15): Show CAGCCCCCAGTGAGCCCCCAGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0058 a0001c0014t0003g0058	1	86	0.0116	22	c.224 others(41): Show c.2241+3440_2241+3461dupCACTGGGGGCTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1070606	C C	CAGCCCCC others(15): Show CAGCCCCCAGTGAGCCCCCAGTG	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0008 a0008	a0008c0036 a0008c0036	a0008c0036t0001 a0008c0036t0001	a0008c0036t0001g0097 a0008c0036t0001g0097	1	106	0.0094	22	c.224 others(41): Show c.2241+3026_2241+3027insCACTGGGGGCTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1093494	G G	GGGGCGGG others(15): Show GGGGCGGGGACTGGGCGGGGACT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0015 a0002c0015t0015	a0002c0015t0015g0085 a0002c0015t0015g0085	1	29	0.0345	22	c.342 others(35): Show c.342+38_342+39insAGTCCCCGCCCAGTCCCCGCCC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	3/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1112332	G G	GCCCTCCC others(15): Show GCCCTCCCCGCCCCCCCCCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	108	0.0093	22	c.-34 others(31): Show c.-342_-341insGGGCGGGGGGGGGCGGGGAGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding		270		chr5	TogoVar
SLC13A3_chr20_46552828_46656459	46563610	A A	AAGAGAGA others(15): Show AAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02074.hp1 HG02523.hp2 others(3): Show HG00558.hp2 HG02074.hp1 HG02523.hp2 NA18959.hp2 NA19062.hp2 NA19066.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0008 a0001c0006t0008 a0001c0006t0016 a0001c0003t0008 a0001c0006t0008 a0001c0006t0016	a0001c0003t0008g0217 a0001c0003t0008g0311 a0001c0003t0008g0344 others(3): Show a0001c0003t0008g0217 a0001c0003t0008g0311 a0001c0003t0008g0344 a0001c0003t0008g0380 a0001c0006t0008g0373 a0001c0006t0016g0073	6	73	0.0822	22	c.149 others(37): Show c.1495-60_1495-59insCTCTCTCTCTCTCTCTCTCTCT	SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding	11/12			chr20	TogoVar
SLC13A3_chr20_46552828_46656459	46632911	A A	AGATAGAC others(15): Show AGATAGACAGACAGATAGCTCTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01358.hp1 HG01891.hp1 others(7): Show HG00741.hp1 HG01358.hp1 HG01891.hp1 HG02109.hp1 HG02717.hp1 HG02922.hp1 HG03041.hp2 HG03688.hp2 HG03704.hp1 NA18940.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0002c0011 a0010c0029	a0001c0001t0003 a0001c0002t0004 a0001c0004t0001 others(6): Show a0001c0001t0003 a0001c0002t0004 a0001c0004t0001 a0001c0004t0002 a0001c0005t0002 a0001c0006t0006 a0001c0006t0012 a0002c0011t0006 a0010c0029t0006	a0001c0001t0003g0308 a0001c0002t0004g0051 a0001c0004t0001g0307 others(7): Show a0001c0001t0003g0308 a0001c0002t0004g0051 a0001c0004t0001g0307 a0001c0004t0002g0018 a0001c0005t0002g0033 a0001c0005t0002g0138 a0001c0006t0006g0130 a0001c0006t0012g0027 a0002c0011t0006g0370 a0010c0029t0006g0306	10	183	0.0546	22	c.111 others(41): Show c.111+18399_111+18400insAAGAGCTATCTGTCTGTCTATC	SLC13A3	ENSG00000158296.14	transcript	ENST00000279027.9	protein_coding	1/12			chr20	TogoVar
SLC13A4_chr7_135676231_135733186	135711963	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	20	0.0500	22	c.229 others(39): Show c.229-3735_229-3714dupAAAAAAAAAAAAAAAAAAAAAA	SLC13A4	ENSG00000164707.16	transcript	ENST00000682651.1	protein_coding	2/15			chr7	TogoVar

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